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Archive for the ‘Gene Therapy Doctor’ Category

Cancer’s Newest Miracle Cure – TIME

With the usual mix of anticipation and apprehension, Kaitlyn Johnson is getting ready to go to her first summer camp. She's looking forward to meeting new friends and being able to ride horses, swim and host tea parties. She's also a little nervous and a little scared, like any 7-year-old facing her first sleepaway camp.

But the wonder is that Kaitlyn is leaving the house for anything but a medical facility. Diagnosed with leukemia when she was 18 months old, her life has been consumed with cancer treatments, doctors' visits and hospital stays.

Acute lymphoblastic leukemia is the most common cancer among young children, accounting for a quarter of all cancer cases in kids, and it has no cure. For about 85% to 90% of children, the leukemia can, however, be effectively treated through chemotherapy.

If it is not eliminated and comes back, it is, more often than not, fatal. Rounds of chemotherapy can buy patients time, but as the disease progresses, the periods of remission get shorter and shorter. "The options for these patients are not very good at all," says Dr. Theodore Laetsch, a pediatrician at the University of Texas Southwestern Medical Center.

When Kaitlyn's cancer wasn't controlled after three years and round after round of chemotherapy drugs, her doctors had little else to offer. "They said, 'This did nothing, it didn't touch it,'" says Kaitlyn's mother Mandy, a dental assistant from Royce City, Texas. "My stomach just dropped." Kaitlyn could receive a bone-marrow transplant, but only about half of those procedures are successful, and there was a good chance that she would reject the donor cells. If that happened, her chances of surviving were very small.

In a calculated gamble, her doctors suggested a radical new option: becoming a test subject in a trial of an experimental therapy that would, for the first time, use gene therapy to train a patient's immune system to recognize and destroy their cancer in the same way it dispatches bacteria and viruses. The strategy is the latest development in immunotherapy, a revolutionary approach to cancer treatment that uses a series of precision strikes to disintegrate cancer from within the body itself. Joining the trial was risky, since other attempts to activate the immune system hadn't really worked in the past. Mandy, her husband James and Kaitlyn traveled from their home in Texas to Children's Hospital of Philadelphia (CHOP), where they stayed in a hotel for eight weeks while Kaitlyn received the therapy and recovered. "The thought crossed my mind that Kaitlyn might not come home again," says Mandy. "I couldn't tell you how many times I would be in the bathroom at the hospital, spending an hour in the shower just crying, thinking, What are we going to do if this doesn't help her?"

But it did. After receiving the therapy in 2015, the cancer cells in Kaitlyn's body melted away. Test after test, including one that picks up one cancer cell in a million, still can't detect any malignant cells lurking in Kaitlyn's blood. What saved Kaitlyn was an infusion of her own immune cells that were genetically modified to destroy her leukemia. "You take someone who essentially has no possibility for a cure--almost every single one of these patients dies--and with [this] therapy, 90% go into remission," says Dr. David Porter, director of blood and bone-marrow transplantation at the University of Pennsylvania. Such radical immune-based approaches were launched in 2011 with the success of intravenous drugs that loosen the brakes on the immune system so it can see cancer cells and destroy them with the same vigor with which they attack bacteria and viruses. Now, with the genetically engineered immune cells known as chimeric antigen receptor (CAR) T cells that were used in Kaitlyn's study, doctors are crippling cancer in more precise and targeted ways than surgery, chemotherapy and radiation ever could. While the first cancer immunotherapies were broadly aimed at any cancer, experts are now repurposing the immune system into a personalized precision treatment that can not only recognize but also eliminate the cancer cells unique to each individual patient.

What makes immune-based therapies like CAR T cell therapy so promising--and so powerful--is that they are a living drug churned out by the patients themselves. The treatment isn't a pill or a liquid that has to be taken regularly, but a one-hit wonder that, when given a single time, trains the body to keep on treating, ideally for a lifetime.

"This therapy is utterly transformative for this kind of leukemia and also lymphoma," says Stephan Grupp, director of the cancer immunotherapy program at CHOP and one of the lead doctors treating patients in the study in which Kaitlyn participated.

Eager to bring this groundbreaking option to more patients, including those with other types of cancers, an advisory panel for the Food and Drug Administration voted unanimously in July to move the therapy beyond the testing phase, during which several hundred people have been able to take advantage of it, to become a standard therapy for children with certain leukemias if all other treatments have failed. While the FDA isn't obligated to follow the panel's advice, it often does, and it is expected to announce its decision in a matter of weeks.

Across the country, doctors are racing to enroll people with other cancers--breast, prostate, pancreatic, ovarian, sarcoma and brain, including the kind diagnosed in Senator John McCain--in hundreds of trials to see if they, too, will benefit from this novel approach. They are even cautiously allowing themselves to entertain the idea that this living drug may even lead to a cure for some of these patients. Curing cancers, rather than treating them, would result in a significant drop in the more than $120 billion currently spent each year on cancer care in the U.S., as well as untold suffering.

This revolutionary therapy, however, almost didn't happen. While the idea of using the body's immune cells against cancer has been around for a long time, the practical reality had proved daunting. Unlike infection-causing bacteria and viruses that are distinctly foreign to the body, cancer cells start out as healthy cells that mutate and grow out of control, and the immune system is loath to target its own cells.

"Only a handful of people were doing the research," says Dr. Carl June, director of the Center for Cellular Immunotherapy at the University of Pennsylvania's Abramson Cancer Center and the scientist who pioneered the therapy. A graduate of the U.S. Naval Academy, June is all too familiar with the devastating effects of cancer, having lost his first wife to ovarian cancer and battled skin cancer himself. Trial after trial failed as reinfusions of immune cells turned out to be more of a hit-or-miss endeavor than a reliable road to remission.

After spending nearly three decades on the problem, June zeroed in on a malignant fingerprint that could be exploited to stack the deck of a cancer patient's immune system with the right destructive cells to destroy the cancer.

In the case of leukemias, that marker turned out to be CD19, a protein that all cancerous blood cells sprout on their surface. June repurposed immune cells to carry a protein that would stick to CD19, along with another marker that would activate the immune cells to start attacking the cancer more aggressively once they found their malignant marks. Using a design initially developed by researchers at St. Jude Children's Research Hospital for such a combination, June and his colleague Bruce Levine perfected a way to genetically modify and grow these cancer-fighting cells in abundance in the lab and to test them in animals with leukemia. The resulting immune platoon of CAR T cells is uniquely equipped to ferret out and destroy cancer cells. But getting them into patients is a complex process. Doctors first remove a patient's immune cells from the blood, genetically tweak them in the lab to carry June's cancer-targeting combination and then infuse the modified cells back into the patient using an IV.

Because these repurposed immune cells continue to survive and divide, the therapy continues to work for months, years and, doctors hope, perhaps a lifetime. Similar to the way vaccines prompt the body to produce immune cells that can provide lifelong protection against viruses and bacteria, CAR T cell therapy could be a way to immunize against cancer. "The word vaccination would not be inappropriate," says Dr. Otis Brawley, chief medical officer of the American Cancer Society.

June's therapy worked surprisingly well in mice, shrinking tumors and, in some cases, eliminating them altogether. He applied for a grant at the National Cancer Institute at the National Institutes of Health to study the therapy in people from 2010 to 2011. But the idea was still so new that many scientists believed that testing it in people was too risky. In 1999, a teenager died days after receiving an experimental dose of genes to correct an inherited disorder, and anything involving gene therapy was viewed suspiciously. While such deaths aren't entirely unusual in experimental studies, there were ethical questions about whether the teenager and his family were adequately informed of the risks and concerns that the doctor in charge of the study had a financial conflict of interest in seeing the therapy develop. Officials in charge of the program acknowledged that important questions were raised by the trial and said they took the questions and concerns very seriously. But the entire gene-therapy program was shut down. All of that occurred at the University of Pennsylvania--where June was. His grant application was rejected.

It would take two more years before private funders--the Leukemia and Lymphoma Society and an alumnus of the university who was eager to support new cancer treatments--donated $5 million to give June the chance to bring his therapy to the first human patients.

The date July 31 has always been a milestone for Bill Ludwig, a retired corrections officer in New Jersey. It's the day that he joined the Marines as an 18-year-old, and the day, 30 years later, that he married his wife Darla.

It was also the day he went to the hospital to become the first person ever to receive the combination gene and CAR T cell therapy, in 2010. For Ludwig, the experimental therapy was his only remaining option. Like many people with leukemia, Ludwig had been living on borrowed time for a decade, counting the days between the chemotherapy treatments that would hold the cancer in his blood cells at bay for a time. Inevitably, like weeds in an untended garden, the leukemia cells would grow and take over his blood system again.

But the periods of reprieve were getting dangerously short. "I was running out of treatments," says Ludwig. So when his doctor mentioned the trial conducted by June and Porter at the University of Pennsylvania, he didn't hesitate. "I never thought that the clinical trial was going to cure me," he says. "I just wanted to live and to continue to fight. If there was something that would put me into the next month, still breathing, then that's what I was looking for."

When Ludwig signed the consent form for the treatment, he wasn't even told what to expect in terms of side effects or adverse reactions. The scientists had no way of predicting what would happen. "They explained that I was the first and that they obviously had no case law, so to speak," he says. So when he was hit with a severe fever, had difficulty breathing, showed signs of kidney failure and was admitted to the intensive care unit, he assumed that the treatment wasn't working.

His condition deteriorated so quickly and so intensely that doctors told him to call his family to his bedside, just four days after he received the modified cells. "I told my family I loved them and that I knew why they were there," he says. "I had already gone and had a cemetery plot, and already paid for my funeral."

Rather than signaling the end, Ludwig's severe illness turned out to be evidence that the immune cells he received were furiously at work, eliminating and sweeping away the huge burden of cancer cells choking up his bloodstream. But his doctors did not realize it at the time.

It wasn't until the second patient, Doug Olson, who received his CAR T cells about six weeks after Ludwig, that Porter had a eureka moment. When he received the call that Olson was also running a high fever, having trouble breathing and showing abnormal lab results, Porter realized that these were signs that the treatment was working. "It happens when you kill huge amounts of cancer cells all at the same time," Porter says. What threw him off initially is that it's rare for anything to wipe out that much cancer in people with Ludwig's and Olson's disease. June and Porter have since calculated that the T cells obliterated anywhere from 2.5 lb. to 7 lb. of cancer in Ludwig's and Olson's bodies. "I couldn't fathom that this is why they both were so sick," says Porter. "But I realized this is the cells: they were working, and working rapidly. It was not something we see with chemotherapy or anything else we have to treat this cancer."

Ludwig has now been in remission for seven years, and his success led to the larger study of CAR T cell therapy in children like Kaitlyn, who no longer respond to existing treatments for their cancer. The only side effect Ludwig has is a weakened immune system; because the treatment wipes out a category of his immune cells--the ones that turned cancerous--he returns to the University of Pennsylvania every seven weeks for an infusion of immunoglobulins to protect him from pneumonia and colds. Olson, too, is still cancer-free.

While the number of people who have received CAR T cell therapy is still small, the majority are in remission. That's especially encouraging for children, whose lives are permanently disrupted by the repeated cycles of treatments that currently are their only option. "It's a chance for these kids to have a normal life and a normal childhood that doesn't involve constant infusions, transfusions, infections and being away from their home, family and school," says Dr. Gwen Nichols, chief medical officer of the Leukemia and Lymphoma Society.

The hope is that while CAR T cell therapy will at first be reserved for people who have failed to respond to all standard treatments, eventually they won't have to wait that long. As doctors learn from pioneers like Kaitlyn, Ludwig and Olson, they will have more confidence in pushing the therapy earlier, when patients are stronger and the cancer is less advanced--perhaps as a replacement for or in combination with other treatments.

The severe immune reaction triggered by the therapy remains a big concern. While it can be monitored in the hospital and managed with steroids or antibodies that fight inflammation, there have been deaths in other trials involving CAR T cells. One drug company put one of its studies on hold due to the toxic side effects. "I am excited by CAR T therapy, but I'm also worried that some people might get too excited," says the American Cancer Society's Brawley. "It's important that we proceed slowly and do this meticulously so that we develop this in the right way."

For now, CAR T cells are expensive--some analysts estimate that each patient's batch of cells would cost hundreds of thousands of dollars--because they require a bespoke production process. If approved, Novartis, which licensed the technology from the University of Pennsylvania, will provide the therapy in about 35 cancer centers in the U.S. by the end of the year. Other companies are already working toward universal T cells that could be created for off-the-shelf use in any patient with cancer. "This is just the beginning," says June.

Since Ludwig's cancer has been in remission, he and his wife have packed their RV and taken the vacations they missed while he was a slave to his cancer and chemotherapy schedule. This year, they're visiting Mount Rushmore, Grand Teton National Park and Yellowstone National Park before taking their granddaughter to Disney World in the fall. "When they told me I was cancer-free, it was just like someone said, 'You won the lottery,'" he says. "If somebody else with this disease has the chance to walk in my shoes and live past it, that would be the greatest gift for me."

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Cancer's Newest Miracle Cure - TIME

Springfield Mom Works to Raise Awareness after Son Diagnosed with Rare Genetic Disorder – KSMU Radio

Parker Atchley is your typical four-year-old in many ways. Hes shy at first but usually opens up after he gets to know you, he loves anything with wheels, baseball and splashing in water, and he sticks pretty close to his mom, but a grandma will do if moms not available.

Hes an adorable, blonde boy with dark-rimmed glasses and a stare that makes you feel like hes thoroughly assessing you but that also melts your heart.

He also is suffering from a rare diseaseor at least a disease that only a few have been diagnosed with so far.

Sitting on the floor of her living room in southeast Springfield, Parkers mom, Kathryn Atchley, said they got a diagnosis in January: KIF1A-related disorder. It was a long journey to get to that point.

"When he was around one, we realized that something was off. We weren't sure. The director of the day care he was going to actually called a meeting with us to talk about some concerns because he wasn't walking at that point. He had just started traversing around furniture," she said.

His balance was also off. Kathryn and her husband, Tyler, thought maybe it was an ear or eye problem. They took Parker to a pediatrician, an ear, nose and throat doctor and a neurologist. All tests came back normal. So they enrolled him in physical therapy. As he got older, they held onto hope that Parker would get better, but he didnt and they grew more and more frustrated.

"It started getting really worrisome when we realized that he was losing skills. Two years ago he used to be able to stand up on his own, and he can't do that anymore. He was taking nine steps at a time, and he can't do that anymore," said Kathryn.

The Atchleys took Parker to a second neurologist who recommended genetic testing. They finally got the diagnosis that Kathryn said changed everything.

"Cause then we realized it wasn't just a rare disorder, it was neurodegenerative," she said.

They no longer clung to the hope that Parker was just delayed and that physical therapy could help him catch up.

Dr. Wendy Chung, a physician with Columbia University in New York, saidKIF1A-related disorder is a genetic condition, caused by a mutation in the KIF1A gene, which was identified fairly recentlyin the last 10 years or so. It affects the brain and nervous system and, while some with the disorder are affected mildly, others, including Parker, can have severe disabilities. Those include muscle tightening, spasticity and difficulty developing. The most disheartening thing about the condition, she said, is that its degenerative.

"That is that children take steps back. They lose abilities. They lose vision," said Dr. Chung

The first piece of advice given to the Atchleys by the neurologist was to go online and find other families affected by KIF1A. Kathryn said the doctor had never heard of the disorder before.

"He was very upfront and honest and said, you know, 'I'm learning this as you guys learn it,'" she said.

She found a Facebook support group for families with children who have KIF1A-related disorder, and, at the time, there were only 20 families in the group. Its since grown some as more kids get diagnosed through whole genome testing.

Dr. Chung said shed venture to guess that the vast majority of people with KIF1A-related disorder dont even realize they have this condition.

"There are a lot of individuals out there that have symptoms who just don't know what they are. There's powerful new sequencing and genetic technology to figure that out, and, you know, I think that's what people like me are trying to do is make sure patients get access to that type of testing," said Dr. Chung.

Whole Exome Sequencing, a fairly expensive test that can be cost prohibitive, isnt covered by all insurance companies.

But Dr. Chung said other tests on children to get a diagnosis, such as MRIs and brain scans, are also expensive and dont always result in an answer. And she said having a diagnosis is valuable at many levels.

"Certainly I think for the families just having an answer about what this is and what to expect and what they can do to keep their child healthy and learning and, you know, improve their quality of life or maintain their quality of life, I think is huge if you ask any of the families. I think the other portion of this is that you don't waste your time doing things that are not necessary," she said.

According to Dr. Chung, more diagnoses ofKIF1A-related disorder will hopefully lead to more research to find a cure.

Parents of kids with KIF1A-related disorder, including Kathryn Atchley, are working to raise awareness about the condition and money for research.

"You know, in connecting with other families I think there's a lot of us parents that, 'I don't want to sit by and do nothing and just kind of let the medical community figure it out,'" said Kathryn.

Dr. Chung has taken KIF1A parents under her wing and tells them shes their Sherpatheir guide through a frightening diagnosis up what she calls a large mountain as they try to seek treatment for their children. Currently, treatment is supportive and consists of things like physical therapy, getting seizures under control and helping patients maintain their mobility.

Dr. Chung calls herself an optimistic person and is hopeful a cure will be found one day, but she doesnt know if it will be five, ten or twenty years down the road. She also calls herself a realist and said scientists are just beginning to understand KIF1A-related disorder. But she knows that scientific knowledge, especially in neuroscience is growing much more rapidly than ever before.

"So I'm confident that treatments are going to be available in the future. The question though is, you know, how quickly can we accelerate that? You know...is the future going to be 20 years off? Can we accelerate it to be five years off? And that, I think, is still fundamentally unknown," said Dr. Chung.

After the diagnosis, Kathryn said they began adjusting their hopes and dreams for their son. She couldnt look at Parker without crying.

"And one day I was sitting at the coffee table playing with him, and he trailed tears down my face, and I realized that I was really robbing us of our present with Parker," she said.

Kathryn, who calls herself an optimist in training, doesnt want to stand by and let the disease take away the progress Parker has made. She wants to do all she can to help find a cure.

"I have to get people to care about Parker and the rest of these kids if they're going to have any hope of finding treatment or a cure," she said.

Dr. Chung said funding is needed to support research on genetic disorders like KIF1A. You can find out more and donate at kif1a.org. Read about the Atchley family's journey with KIF1A-related disorder on Kathryn's blog.

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Springfield Mom Works to Raise Awareness after Son Diagnosed with Rare Genetic Disorder - KSMU Radio

New Gene Therapy for Vision Loss Proven Safe in Humans …

New gene therapy for macular degeneration proven safe in preliminary clinical trial.

Credit: iStock

In a small and preliminary clinical trial, Johns Hopkins researchers and their collaborators have shown that an experimental gene therapy that uses viruses to introduce a therapeutic gene into the eye is safe and that it may be effective in preserving the vision of people with wet age-related macular degeneration (AMD). AMD is a leading cause of vision loss in the U.S., affecting an estimated 1.6 million Americans. The disease is marked by growth of abnormal blood vessels that leak fluid into the central portion of the retina called the macula, which we use for reading, driving and recognizing faces.

The study published on May 16 in The Lancet, reports an exciting new approach in which a virus, similar to the common cold, but altered in the lab so that it is unable to cause disease, is used as a carrier for a gene and is injected into the eye. The virus penetrates retinal cells and deposits a gene, which turns the cells into factories for productions of a therapeutic protein, called sFLT01.

The abnormal blood vessels that cause wet AMD grow because patients have increased production of vascular endothelial growth factor (VEGF) in their retinas. Current treatments require injections of proteins directly into the eye that bind and inactivate VEGF, reducing fluid in the macula and improving vision. However, the therapeutic proteins exit the eye over the course of a month, so patients with wet AMD usually need to return to the clinic for more injections every six to eight weeks in order to stave off vision loss. Eye specialists say the burden and discomfort of the regimen is responsible for many patients not getting injections as frequently as they need, causing vision loss.

Because viruses naturally penetrate cells and leave behind genetic material, the investigators designed their virus to target retinal cells and provide them with a gene that produces sFLT01. Thus, retinal cells become factories that produce the therapeutic protein potentially eliminating the need to repeatedly inject it.

This preliminary study is a small but promising step towards a new approach that will not only reduce doctor visits and the anxiety and discomfort associated with repeated injections in the eye, but may improve long-term outcomes because prolonged suppression of VEGF is needed to preserve vision, and that is difficult to achieve with repeated injections because life often gets in the way, says Peter Campochiaro, M.D., the George S. and Dolores D. Eccles Professor of Ophthalmology at the Johns Hopkins University School of Medicine.

The phase 1 clinical trial involved 19 men and women, 50 years old or older with advanced wet AMD.

Participants were divided into five different groups that received increasing doses from 2X10^8 to 2X10^10 viral particles containing the therapeutic gene in 0.05 mL of fluid. Each group was examined by investigators for signs of adverse reactions for at least 4 weeks before administering a higher dose to the next group.

After the virus deposited the gene, the cells began secreting sFLT01 which bound to VEGF and prevented it from stimulating leakage and growth of abnormal blood vessels. The goal is for the retinal cells infected by the virus to produce enough sFLT01 to permanently stop the progression of AMD.

After monitoring the first three groups and finding no dose-limiting toxicity, the researchers administered the maximum dose to a group of ten participants and observed no serious side effects. Even at the highest dose, the treatment was quite safe. We found there were almost no adverse reactions in our patients, Campochiaro says.

For safety and ethical reasons, the study group was composed of people for whom standard approved treatments were highly unlikely to regain vision, meaning in part that only 11 of the 19 had the potential for fluid reduction. Of those eleven patients, four showed dramatic improvements. The amount of fluid in their eyes dropped from severe to almost nothing, just like what is observed with optimal standard treatment, Campochiaro says. In addition, two other participants showed a partial reduction in the amount of fluid in their eyes.

Five participants showed no reduction in fluid levels. Surprisingly, the researchers say, they found that all of the patients who did not show improvement had pre-existing antibodies to the AAV2 virus.

From that result, the researchers conclude that even if further studies affirm the safety and value of their gene therapy, it may have limitations for broad use. Thats because an estimated sixty percent of the U.S. population has been infection with adeno-associated virus, the family of viruses that AAV2 belongs to, and have built an immunity to it. The researchers believe that in these patients, the immune system destroyed the virus before it could insert the therapeutic gene. Campochiaro explains, The numbers are small and simply show a correlation, so we dont know if serum antibodies are definitely an impediment, but more work is needed to determine this.

Other researchers involved in this study include Jeffrey S. Heier and Shilpa Desai of the Ophthalmic Consultants of Boston; Saleema Kherani, of the Johns Hopkins University School of Medicine; Pravin Dugel of the Retinal Consultants of Arizona; Shalesh Kaushal of the University of Massachusetts Medical Center; and Seng H. Cheng, Cheryl Delacono, Annie Purvis, Susan Richards, Annaig Le-Halpere, John Connelly, Samuel C. Wadsworth, Rafael Varona, Ronald Buggage and Abraham Scaria of Sanofi Genzyme.

This study was funded by Sanofi Genzyme, Framingham, Massachusetts, USA.

Seng H. Cheng, Cheryl Delacono, Annie Purvis, Susan Richards, Annaig Le-Halpere, John Connelly, Samuel C. Wadsworth, Rafael Varona, Ronald Buggage and Abraham Scaria are employees of Sanofi Genzyme.

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New Gene Therapy for Vision Loss Proven Safe in Humans ...

Indian-origin doctor helps gene editing of human embryos – Times of India

NEW DELHI: For the first time, genetically modified human embryos have been developed in the US and Kashmir-born doctor Sanjeev Kaul has played a lead role in this breakthrough.

Scientists have now demonstrated an effective way of using a gene-editing tool to correct a disease-causing gene mutation in human embryos and stop it from passing to future generations.

Though this is not a full-fledged start of a revolution of having 'designer babies', the first steps, however, have been laid. China attempted this earlier.

A team of scientists has altered human embryos using a new technique called CRISPR CAS9 that edits genes and in this case it helped remove a fatal mutation that leads to heart attacks.

This now opens up an ethical 'Pandora's Box' if germline repairs and enhancements may become a thing in vogue.

As of now, the human embryos were not implanted in humans. But this now opens up exciting prospects of the world having designer babies soon.

The research published in British journal Nature shows the first genetically modified human embryos made in America.

A team of South Korean, Chinese and American scientists has identified how they could edit out a faulty gene that causes heart attacks in later life due to the thickening of heart walls.

One of the team members is Dr Kaul, who was born in Kashmir, studied in New Delhi and later immigrated to America.

"Although the rare heart mutation affects men and women of all ages, it is a common cause of sudden cardiac arrest in young people, and it could be eliminated in one generation in a particular family," said co-author Kaul, a professor of medicine (cardiovascular medicine) in the OHSU School of Medicine and director of the OHSU Knight Cardiovascular Institute.

"Thanks to advances in stem cell technologies and gene editing, we are finally starting to address disease-causing mutations that impact potentially millions of people," says Juan Carlos Izpisua Belmonte, a professor in California-based Salk Institutes Gene Expression Laboratory and a corresponding author of the paper.

"Gene editing is still in its infancy so even though this preliminary effort was found to be safe and effective, it is crucial that we continue to proceed with the utmost caution, paying the highest attention to ethical considerations."

CRISPR CAS9 or Clustered Regularly Interspaced Short Palindromic Repeats is a kind of a precise molecular scissor the scientists use to edit faulty genes.

Only selected healthy embryos were allowed to grow further that too only for a few days. The embryos were not implanted in humans.

The big step forward is that a higher percentage embryos were found to have been repaired in this American experiment than earlier attempts.

CRISPR holds promise for correcting mutations in the human genome to prevent genetic disease. Using an enzyme called Cas9, it is possible to snip a specific target sequence on a mutant gene.

The new study found that human embryos effectively repair these breaks in the mutant gene using the normal copy of this gene from a second parent as a template.

The resulting embryos contain now repaired, mutation-free copies of this gene.

The technique already has been used in animals for generating mutant models; however, the new study is the first to demonstrate that technique can be used in human embryos to convert mutant genes back to normal.

The study also demonstrated a way for overcoming a crucial problem in genome editing in embryos known as mosaicism.

Mosaicism refers to an outcome when not all cells in a multicellular embryo get repaired and some cells still carry a mutation.

"Every generation on would carry this repair because we have removed the disease-causing gene variant from that family's lineage," said senior author Shoukhrat Mitalipov, PhD, who directs the Center for Embryonic Cell and Gene Therapy at Oregon Health and Science University (OHSU), in Portland, Oregon, USA.

"By using this technique, it is possible to reduce the burden of this heritable disease on the family and eventually the human population."

The study provides new insight into a technique that could apply to thousands of inherited genetic disorders affecting millions of people worldwide.

The gene-editing technique described in this study, done in concert with in vitro fertilisation, could provide a new avenue for people with known heritable disease-causing genetic mutations to eliminate the risk of passing the disease to their children.

"If proven safe, this technique could potentially decrease the number of cycles needed for people trying to have children free of genetic disease," said co-author Paula Amato, associate professor of obstetrics and gynaecology in the OHSU School of Medicine.

Designer babies could be in the offing.

"Our results demonstrate the great potential of embryonic gene editing, but we must continue to realistically assess the risks as well as the benefits," adds Belmonte.

In this landmark study, the researchers worked with healthy donated human oocytes and sperm carrying the genetic mutation that causes cardiomyopathy or the thickening of heart walls.

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Indian-origin doctor helps gene editing of human embryos - Times of India

WBZ-TV Riders Take On Pan-Mass Challenge – CBS Boston / WBZ

WELLESLEY (CBS) Several members of the WBZ-TV team took part in the Pan-Mass Challenge this weekend.

Among the 600 riders heading to Foxboro from Wellesley Sunday morning was WBZ-TV meteorologist Barry Burbank, riding his second PMC as a member of the WBZ Cyclones.

Its a fantastic ride, its great to be with everybody here, Burbank told WBZ NewsRadio 1030s Doug Cope. Were here for a common goal. Were all getting to the end line, and we want to find that cure for this horrendous disease cancer.

He and WBZ anchor David Wade talked to WBZ-TVs Nick Giovanni Sunday morning about why they ride the PMC.

WBZ-TVs David Wade at the start of day 2 of the Pan-Mass Challenge. (WBZ-TV)

This year was Wades fourth ride. He was riding for Team Gene Therapy. They ride in honor of Gene Aaron, a doctor who delivered Wades sons. Aaron is now battling pancreatic cancer, and the team is working to raise money for research.

The energy is incredible, and you get to meet some of the kids, some of the survivors, some of the people that youre riding for, he said.

Burbank said cancer has struck some of his friends, family, both young and old.

WBZ-TV anchor Lisa Hughes did the complete 192-mile ride.

It is the most perfect biking day, its beautiful, Hughes said. We saw the sun come up over the Cape Cod Canal, and all the fishermen and the blue herons, and he whole day has been perfect so far.

WBZ-TV reporter Mike LaCrosse also rode the PMC this year.

He finished the 192-mile route Sunday afternoon.

WBZ NewsRadio 1030s Doug Cope reports

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WBZ-TV Riders Take On Pan-Mass Challenge - CBS Boston / WBZ

Gene editing breakthrough: Perspective from a geneticist and a pastor – WTSP 10 News

A test eliminated a disease-causing gene, but some fear the technique could lead to designer babies.

Mark Rivera, WTSP 11:25 PM. EDT August 02, 2017

Genetics (iStock)

ST. PETE People have been sharing aNew York Times story all over social media: For the first time, scientists in the US have successfully changed a disease-causing gene inside a human embryo.

It was just a basic test. But the technique could one day stop genetic diseases and even birth defects.

The possibilities are incredible but where do you draw the line?

Could the same technique be used to change genes so babies are smarter, taller, and have the exact eye colors you want?

We spoke with a geneticist and a pastor to get perspective on the debate.

Scientists say diseases like breast and ovarian cancer, Huntington's disease and more could be cured before birth - never to be passed on again.

Before birth - during fertilization - doctors use a natural enzyme to cut out the bad gene and replace it with the good one.

The possibilities are enormous, said Johns Hopkins All Childrens Hospital geneticist Dr. Maxine Sutcliffe.

She says this could be a new paradigm of disease prevention in humans.

But there are two big issues. Safety first.

If you're going to cut into something. you want to make sure you don't damage something else, Sutcliffe said.

And ethics.

We have the potential, we have the expertise, we have the ability to keep this under control and let it work for the good of mankind as opposed to the destructive side, the manipulative side, or the wrong side, she said.

Sutcliffe said we are decades upon decades away from being able to pick the traits for our kids -- if we ever will be -- but should we cure a disease in a fetus if we can?

I mean who benefits from it? If it's only the wealthy that can benefit from this, then the wealthy that become healthier, the wealthy become smarter, the wealthy become better looking, whatever that is. Is that what we want as a culture? asked Rev. Dr. Craig Nelson.

Nelson pastors the First United Methodist Church in St. Petersburg.

There can be great benefits and people can become incredible gifts to society with all kinds of diversity that we have, he said.

Rev. Nelson said he is alive today in part because he received a gene therapy treatment to fight his stage 4 lung cancer.

First doctor said I had 6 months to a year to live 5 1/2 years ago, he said.

Where technologies can help us in eliminating pain and suffering, where it can lead to a healthier world and culture, pursue it, but you can't just say, 'Oh yeah it can do this, we're all in.'

When there's a preference that would start permeating culture, then that leads to uniformity. That leads to stormtroopers on 'Star Wars,' you know? ... I mean, Hitler tried it, you know? And where did that get us?

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Gene editing breakthrough: Perspective from a geneticist and a pastor - WTSP 10 News

Scientists successfully doctor human embroyo – Examiner Enterprise

By Melissa Healy Los Angeles Times

(TNS) Using a powerful gene-editing technique, scientists have rid human embryos of a mutation that causes an inherited form of heart disease often deadly to healthy young athletes and adults in their prime.

The experiment marks the first time that scientists have altered the human genome to ensure a disease-causing mutation would disappear not only from the DNA of the subject on which its performed, but from the genes of his or her progeny as well.

The controversial procedure, known as germ-line editing, was conducted at Oregon Health & Science University using human embryos expressly created for the purpose. It was reported Wednesday in the journal Nature.

The new research comes less than six months after the National Academies of Science, Engineering and Medicine recommended that scientists limit their trials of human germ-line editing to diseases that could not be treated with reasonable alternatives at least for now.

In a bid to make the experiment relevant to real-life dilemmas faced by parents who carry genes for inherited diseases, the researchers focused their editing efforts on a mutation that causes inherited hypertrophic cardiomyopathy.

In this genetic condition, a parent who carries one normal and one faulty copy of a the MYBPC3 gene has a 50-50 chance of passing that mutation on to his or her offspring. If the child inherits the mutation, his or her heart muscle is likely to grow prematurely weak and stiff, causing heart failure and often early death.

In diseases where one parent carries such an autosomal dominant mutation, a couple will often seek the assistance of fertility doctors to minimize the risk of passing such a mutation on to a child. A womans egg production is medically stimulated, and eggs and sperm meet in a lab a process called in vitro fertilization. Then embryologists inspect the resulting embryos, cull the ones that have inherited an unwanted mutation, and transfer only unaffected embryos into a womans uterus to be carried to term.

In the new research, researchers set out to test whether germ-line gene editing could make the process of choosing healthy embryos more effective and efficient by creating more of them.

In the end, their experiment showed it could. The targeted correction of a disease-causing gene carried by a single parent can potentially rescue a substantial portion of mutant human embryos, thus increasing the number of embryos available for transfer, the authors wrote in Nature. Co-author Dr. Paula Amato, an Oregon Health & Science University (OHSU) professor of obstetrics and gynecology, said the technique could potentially decrease the number of cycles needed for people trying to have children free of genetic disease if its found safe for use in fertility clinics.

Along the way, though, many of the researchers findings were scientifically surprising. Long-feared effects of germ-line editing, including collateral damage to off-target genetic sequences, scarcely materialized. And mosaicism, a phenomenon in which edited DNA appears in some but not all cells, was found to be minimal.

The studys lead author, OHSU biologist Shoukhrat Mitalipov, called these exciting and surprising moments. But he cautioned that there is room to improve the techniques demonstrated to produce mutation-free embryos. As for conducting human clinical trials of the germ-line correction, he said those would have to wait until results showed a near-perfect level of efficiency and accuracy, and could be limited by state and federal regulations.

Eventually, Mitalipov said, such germ-line gene editing might also make it easier for parents who carry other gene mutations that follow a similar pattern of inheritance including some that cause breast and ovarian cancers, cystic fibrosis and muscular dystrophy to have healthy children who would not pass those genes to their own offspring.

There is still a long road ahead, predicted Mitalipov, who heads the Center for Embryonic Cell and Gene Therapy at the Portland university.

The research drew a mix of praise and concern from experts in genetic medicine.

Dr. Richard O. Hynes, who co-chaired the National Academies report issued in February, called the new study very good science that advances understanding of genetic repair on many fronts. Hynes, who was not involved with the latest research effort, said he was pleasantly surprised by researchers clever modifications and their outcomes.

Its likely to become feasible, technically not tomorrow, not next year, but in some foreseeable time. Less than a decade, Id say, said Haynes, a biologist and cancer researcher at MIT and the Howard Hughes Medical Institute.

University of California, Berkeley molecular and cell biologist Jennifer Doudna, one of pioneers of the CRISPR-Cas9 gene-editing technique, acknowledged the new research highlights a prospective use of gene editing for one inherited disease and offers some insights into the process.

But Doudna questioned how broadly the experiments promising results would apply to other inherited diseases. She said she does not believe the use of germ-line editing as a means to improve efficiency at infertility clinics meets the criteria laid out by the National Academies of Science, which urged that the techniques only be explored as treatment for diseases with no reasonable alternative.

Already, 50 percent of embryos would be normal, said Doudna. Why not just implant those?

Doudna said she worried that the new findings will encourage people to proceed down this road before the scientific and ethical implications of germ-line editing have been fully considered.

A large group of experts concluded that clinical use should not proceed until and unless theres broad societal consensus, and that just hasnt happened, Doudna said. This study underscores the urgency of having those debates. Because its coming.

What is clear is that the researchers a multinational team of geneticists, cardiologists, fertility experts and embryologists from OHSU and from labs in South Korea and China tried a number of innovations in an effort to improve the safety, efficiency and fidelity of gene editing. And most yielded promising results.

After retrieving eggs from 12 healthy female volunteers, researchers simultaneously performed two steps that had never been combined in a lab: At the same moment that they fertilized the eggs with the sperm of a man who carried a single copy of the mutated gene, they introduced the CRISPR-Cas9 repair machinery.

The resulting embryos took up the genetic-editing program so efficiently and uniformly that, after five days of incubation, 72.4 percent of the embryos (42 of 58) created and tested were free of the MYBPC3 mutation. By comparison, when sperm carrying the single mutation was used to fertilize eggs without any genetic manipulation, just 47.4 percent of embryos were free of the mutation linked to the deadly heart condition.

The researchers believe the timing and the techniques they used prompted the embryos to rely on the healthy maternal copy of the gene as a model for fixing the MYBPC3 mutation, and not a repair template they introduced alongside the editing machinery when the eggs were fertilized. Only one of the 42 embryos used the introduced template for repair. The scientists contrasted this process to the DNA-repair mechanism operating in stem cells, which do use repair templates.

As the embryos cells divided and they matured to the blastocyst stage the point at which they would usually be ready for transfer to a womans uterus _ they did so normally. After extensive testing, the embryos were used to make embryonic stem-cell lines, which are stored in liquid nitrogen and can be used in future research.

Researchers also noted that genetic mosaicism _ a concern raised by earlier experimental efforts at gene editing _ was virtually absent from the 42 embryos that were free of the disease-causing mutation. Only one of the 42 embryos exhibited mosaicism, a condition in which cells did not all carry the same mutation-free genetic code.

MITs Hynes said such findings offer important insights into how human embryos grow, develop and respond to anomalies, and will help families facing infertility and inherited illnesses.

Human embryogenesis is clearly different from that of a mouse, which we know a lot about, said Hynes. That needs to be studied in human embryos, and theres no other way to do it.

The results of the current study are not low enough yet for most applications _ certainly not for clinical applications, but its a big step forward, he added.

While calling the new research very nice science, Hynes downplayed fears that germ-line editing would soon lead to tinkering with such attributes as looks, personality traits and intelligence in human children. Were not looking at designed babies around the corner not for a long time, he said.

But we need to take advantage of the time and space we now have, he said, to make decisions about which uses of the technique are legitimate and which are not.

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Scientists successfully doctor human embroyo - Examiner Enterprise

New cancer therapy in clinical trial at Nebraska Medical Center has … – Omaha World-Herald

By the time scans showed that his B-cell non-Hodgkin lymphoma was coming back last fall, James Olson had run through many of his treatment options.

In early January, his doctor recommended that the Kansas City, Missouri, man travel to the Nebraska Medical Center in Omaha to see whether he was a candidate for a new type of therapy still in clinical trials.

In May, Olson, 69, received an infusion of his own immune cells, which had been removed from his body and modified to recognize and attack the cancer. Known as CAR-T or chimeric antigen receptor T-cell therapy, it represents a new way of targeting some cancers beyond that of traditional treatments.

About 10 weeks later, his scans are good and hes got the stamina to mow his lawn and do some house painting. Hes enjoying the little pleasures of life, even seasonal chores like installing a window air conditioning unit at his home.

His doctors at the medical center, meanwhile, hope theyll soon be able to offer CAR-T to more patients.

The trial that Olson participated in still is underway, and the medical center continues to accept new patients. Another version of the treatment has shown so much promise that its been fast-tracked by the Food and Drug Administration and could receive conditional approval late this fall. The medical center is set to participate in an expanded trial for that treatment, possibly as soon as this month.

Recently, an expert panel unanimously endorsed a version of CAR-T for children and young adults with recurring acute lymphoblastic leukemia. If the FDA clears the drug, medical center doctors hope to offer the treatment to young adults up to age 25. Theyd also like to see new trials with that drug or others for older adults with recurring ALL, as the leukemia is known.

These people need something else, and this may be it, said Dr. Matthew Lunning, a hematologist and oncologist with Nebraska Medicine.

The federal panels endorsement came at a time when a number of companies are racing to develop therapies based on the approach, which scientists first began to explore decades ago. If approved by the FDA, the Novartis product endorsed by the panel would become the first gene therapy approved in the United States. In addition to targeting relapsed lymphoma and leukemia, researchers also are beginning to study the therapy for solid tumors, the kind that start in organs or tissue. Leukemia and lymphoma are considered blood cancers.

Dr. Julie Vose, chief of hematology and oncology at Nebraska Medicine, said the therapy offers many bright spots in oncology.

We just have to learn how to use it in each specific disease and in each specific patient, she said, noting that the therapy is not a one-size-fits-all treatment as existing methods have been. We have to personalize that treatment.

But even with FDA approval, she said, the treatments potential side effects, which include fever and flu-like symptoms ranging from mild to extremely severe, mean it can only be done at specialized centers like the medical center. Indeed, one earlier trial was closed because some patients suffered serious complications.

Vose said trials in non-Hodgkin lymphoma all have produced good results, including the trial currently underway at the medical center and eight other sites nationwide.

Nationally, patients involved in the trial have had a complete remission rate of 60 percent after 30 days and 40 percent after 60 days. Officially, the condition is known as refractory diffuse large B-cell non-Hodgkin lymphoma, an aggressive disease that is among about 80 subtypes of non-Hodgkin lymphoma.

These were patients who had failed every other possible treatment, Vose said. And more than half had good response to the treatment.

Treatment for newly diagnosed non-Hodgkin lymphoma and acute lymphoblastic leukemia usually begins with chemotherapy. About 30 percent of non-Hodgkin lymphoma patients and roughly 40 percent of acute lymphoblastic leukemia patients relapse after chemo. The majority of those go on to have a blood or bone marrow transplant, from which about half will relapse.

Patients who relapse after the transplant, or those who arent candidates for a transplant, could be potential candidates for CAR-T therapy.

Unlike traditional gene therapy, however, CAR-T doesnt involve replacing disease-causing genes with healthy ones. Instead, technology is used to reprogram T cells, immune cells that normally help the body fight infection and cancer. In lymphoma patients, however, Vose said, T cells go haywire and dont properly fight cancer.

During treatment, the patients T cells are collected during an outpatient procedure and sent to a lab in California for processing. The patient then receives several days of intense chemotherapy. The modified T cells are returned to Omaha and put back into the patient, who is monitored at the hospital for seven to 10 days. The entire process takes about three weeks.

Olson, who drove to Omaha last week for a checkup, said he didnt really have any side effects from the procedure. I wondered if theyd given me a placebo, said Olson, who spent his working life in real estate and was diagnosed in 2010. He was well aware of the possible risks after reading and signing a 33-page consent form.

The next question, for patients and researchers alike, is how long the treatment will hold.

We dont know how long because this is such a new treatment, Vose said, but many of the patients (who) have been treated over the past year are doing well.

That question, like many in cancer treatment, comes with its own risks and benefits to balance. If half of the lymphoma is gone and it lasts years, Lunning said, thats better than a remission that lasts a month.

This report includes material from the Washington Post and Associated Press.

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New cancer therapy in clinical trial at Nebraska Medical Center has ... - Omaha World-Herald

Ocean Springs parents fight to save 3-year-old daughter from fatal genetic condition – WGNO

Willow Cannan

OCEAN SPRINGS, Miss. Imagine that you are the parent of an adorable, healthy, curious and loving baby girl.

As she grows, you realize she is not meeting her developmental milestones, but your doctor assures you that she will catch up to the rest of the children eventually. She doesnt speak, is slow to walk and while this in itself is not alarming, your pediatrician refers you to a neurologist.

You wait weeks for the results and the doctor confirms your deepest fears with a devastating diagnosis your baby girl has a rare and fatal genetic condition for which there is no known medication or cure.

In May 2016, Tom Cannan and Amber Olsens daughter Willow was diagnosed with Multiple Sulfatase Deficiency (MSD), a rare type of lysosomal storage disorder. She was born with a mutation of the SUMF1 gene, which means that her body does not create sulfatase enzymes.

This prevents her body from breaking down and recycling natural cellular waste. It is a fatal condition that affects the entire body.

Over the next few years, Willows body will slowly break down, she will lose her vision, and her brain will eventually shut downlikely all before she reaches her tenth birthday.

At just three years old, Willow now walks with a walker, has trouble sitting or eating on her own, and has never spoken.

The doctors told us to go home and spend time with our daughter that there was nothing we could do besides be with her and make her comfortable. We found research online that a treatment was close but lacked funding. We realized we had to develop a plan and put it in action, so we created the United MSD Foundation to raise money for a cure. Our campaign is called Warriors for Willow. We will fund the work needed to develop a clinical trial, we just hope it is in time for Willow, says Willows mother Amber.

While less than 50 children worldwide have been diagnosed with Willows specific condition, lysosomal storage disorders are believed to have an estimated frequency of one in every 5,000 live births. A cure for MSD could potentially result in the cure for multiple conditions, saving thousands of children.

Theres been a resurgence of new types of treatments for these rare inherited disorders like MSD, says Director of UNC Gene Therapy Center, Dr. Steven Gray. Gene therapy has been at the forefront of this resurgence and has proven to have outstanding results in many cases. Because we know whats wrong and what genes are missing, I have high hopes that a cure can be identified. However, it all comes down to funding.

The United MSD Foundations goal is to raise $210,000 by October 1, 2017, to fund the next stage of research. As a rare condition, Multiple Sulfatase Deficiency has not attracted research funding from pharmaceutical companies, which leaves families like Willows to fight for a cure on their own. The United MSD Foundation aims to ensure that this devastating condition receives the research attention it requires and deserves.

In the beginning, we hoped that finding a cure for MSD would save our daughter, says Willows father Tom. We just wanted her to live. But now we are fighting for all of the families worldwide whose lives have been devastated by this condition. We have to give them hope.

To see a video of Willows story or to donate to the United MSD Foundation, click here.All donations will help fund research and clinical testing to identify a cure for MSD.

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Ocean Springs parents fight to save 3-year-old daughter from fatal genetic condition - WGNO

US doctor who wanted to treat Charlie Gard had ‘financial interest’ says Great Ormond Street – Metro

Great Ormond Streets position was outlined in court documents:

At the first hearing in Charlies case in March, GOSHs position was that every daythat passed was a day that was not in his best interests. That remains its view of his welfare. Even now, Charlie shows physical responses to stressors that some of those treating him interpret as pain and when two international experts assessed him last week, they believed that they elicited a pain response. In GOSHs view there has been no real change in Charlies responsiveness since January. Its fear that his continued existence has been painful to him has been compounded by the Judges finding, inApril, that since his brain became affected by RRM2B, Charlies has been an existence devoid of all benefit and pleasure. If Charlie has had a relationship with the world around him since his best interests were determined, it has been one of suffering.

Throughout, his parents hopes have been sustained by advice received from overseas. Mitochondrial disorders comprise a specialised and small international field. The experts in that field meet, collaborate and exchange ideas on a very regular basis and it is that valued collaboration that allows progress to be made and patients to be provided with the best possible care. Professor Hirano (the Professor), whose laboratory research has an international reputation, is very well known to the experts at GOSH and he communicated with them about NBT treatment for Charlie at the very end of December. In January, GOSH invited the Professor to come and see Charlie. That invitation remained open at all times but was not taken up until 18 July after being extended, once again, this time by the Court.

In the months between January and July, the Professor provided written and oral evidence for the best interests hearing in April and, after the Court decided that NBT was not in Charlies best interests, he went on to provide further written evidence for the Court of Appeal and the Supreme Court. Most recently, on 6 July, he co-signed the letter indicating that he had new information that changed the picture for Charlie, that brought this case back before the High Court.

When the hospital was informed that the Professor had new laboratory findings causing him to believe NBT would be more beneficial to Charlie than he had previously opined,GOSHs hope for Charlie and his parents was that that optimism would be confirmed. It was, therefore, with increasing surprise and disappointment that the hospital listened to the Professors fresh evidence to the Court. On 13 July he stated that not only had he not visited the hospital to examine Charlie but in addition, he had not read Charlies contemporaneous medical records or viewed Charlies brain imaging or read all of the second opinions about Charlies condition (obtained from experts all of whom had taken the opportunity to examine him and consider his records) or even read the Judges decision made on 11 April. Further, GOSH was concerned to hear the Professor state, for the first time, whilst in the witness box, that he retains a financial interest in some of the NBT compounds he proposed prescribing for Charlie. Devastatingly, the information obtained since 13 July gives no cause for optimism. Rather, it confirms that whilst NBT may well assist others in the future, it cannot and could not have assisted Charlie.

In the months ahead, all at GOSH will be giving careful thought to what they can learnfrom this bruising court case that might enrich the care it provides to its most vulnerable patients and families. It is hoped that those who, like the Professor, have provided the opinions that have so sustained Charlies parents, their hopes and thus this protracted litigation with its many consequences, will also find much upon which to reflect.

GOSH is a tertiary referral centre and a centre of research excellence. It celebrates and enthuses about gene therapy and experimental treatment of all types. But it also believes in its patients as people. The hospital strives to work with children and parents to strike a balance of treatment benefits and burdens that combines evidence and compassion.

Where that balance falls ethically in favour of pioneering treatment, GOSH shares each familys excitement at the journey that follows. GOSH believes that novel therapies are best provided in the context of formal clinical trials. The hospital does not treat its most vulnerable children simply because it can and on no account does it treat them purely because novel treatment furthers GOSHs research.

All of GOSHs thoughts go with Charlie and his mother and father the hospital wishes each of them peace in their hearts at the end of this day and each day to come.

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US doctor who wanted to treat Charlie Gard had 'financial interest' says Great Ormond Street - Metro

Baby Charlie remains on life support as parents fight doctors for experimental treatment – CBC.ca

He can't cry, kick his legsor breathe unassisted. His body is growing;his brain is not.

Baby Charlie Gard, threeweeks shy of his first birthday, suffers from a rare degenerative disorder. There is no cure. He's being kept alive on a ventilator at a renowned children's hospital in London,where doctors want to take him off life support to allow him to "die with dignity."

But Charlie's parents are in a bitter legal fight to try one last experimental treatment in the U.S. that they know won't say his life but which they say might at least improve it.

"He wakes up, he enjoys his tickles, we lie next to him,"said his mother, Connie Yates.

"If he was suffering, I couldn't do it.I promise you."

Charlie has mitochondrial depletion syndrome, which saps his muscles and organs of energy. He has brain damage and cannot move or cry. The disease is considered fatal. (Charlie Gard Facebook)

But whether or not he's suffering is one of the many disputed facts in this case. Doctors say prolonging his life is causing sufferingand thatno existing treatment can save him.

The Pope, U.S. President Donald Trump and a variety of lawyers, ethicists and doctors have all weighed in on the British baby's fate. As Charlie lies mute inhospital, an impassioned debate swirls around what rights parents have to control their children's medical care.

Kaylom Hoppe, 5, leads chants to 'save Charlie Gard' outside London's Court of Justice, which is hearing evidence in the Gard case Thursday. (Susan Ormiston/CBC)

Two previous courts have ruled with the doctors at London's Great Ormond Hospital. The case is now being heard at Britain's Supreme Court.Under British law, in the rare case when a dispute arises over a child's treatment, a hospital can take it to the courts to decide.

Justice Nicholas Francis was expected to rule on the caseThursday morning but delayed the decision until the courtcan hear from the U.S. doctor who would administer the experimental treatment the family is seeking, called nucleoside bypass therapy.

The doctor is expected to testify via videolater this morning.

On Monday, in an emotional, high-spirited hearing before the court, Francisruled the parents had until Wednesday to deliver new evidence of treatment they believe could benefit their son.

"I'm still fighting for the same thing that I've been fighting for since November 2016,"said Charlie's mother.

Even a 10-per-centchance of improvement, at best, is "a good enough chance to take oral medication with no major side effects," she says.

A health-care facility in the U.S. hasagreed to care for the baby and administer the experimental treatment. It is not curative, but the family's lawyers argue it could slightly improve the baby's underlying condition.

Charlie's father determined to get his baby to the U.S. for an experimental treatment called nucleoside bypass therapy that won't save his life but that the parents think could improve his condition. (Charlie Gard Facebook )

Born healthy, Charlie's muscles began to fail around sixmonths. Doctors discovered he had inherited the faulty RRM2B gene thatinhibitscells from making energy and hadmitochondrial depletion syndrome. His current care team says subsequent seizures in January caused irreparable brain damage. His parentsdisagree.

"I've yet to see something that tells me my son's got irreversible structural brain damage," said Yates.

She told the BBC thatother children with Charlie's condition are currently on the experimental medication.

"They all have mitochondrial depletion syndrome as well as Charlie, but theirs is caused by a slightly different gene. They're all getting stronger."

"This isn't about the parent's right to control what happens to their child," saidPenney Lewis, co-director of the Centre of Medical Law and Ethics at Kings College London.

Protesters stand outside a London court to show support for Charlie and his parents. (Reuters)

"Parents don't have that right, [but] they do have a responsibility to take care of their child as best they can.

"I think one of the things that seems so heartbreaking is that the parents really believe that he could be saved, that he could have a much improved quality of life, and that doesn't appear to be what the evidence suggests."

Yates and Charlie's father, Chris Gard, have used social media to their advantage to spread the word and to crowdfund enough money on GoFundMefor them to travel to the U.S. for treatment. More than 400,000 people have signed a petition calling on doctors to allow the baby to travel to the U.S. AFacebook page has been chartingthe legal steps in the case, and an American Christian group protesting euthanasia has arrived in London promoting#IamCharlieGard on Twitter.

The world's most high-profile tweeter, U.S. President Trump, interjected his opinion on Monday:"If we can help little #CharlieGard, as per our friends in the U.K. and the Pope, we would be delighted to do so."

Then on Wednesday, U.S. Vice-President Mike Pence used the case to make a political point in the U.S. health-care debate. Speaking to Rush Limbaugh on radio, Pence said the baby Gard case is evidence the "single payer"system of medicine doesn't work.

"The mother and father should be able to choose the lifesaving treatment that's available ... instead of submitting to a government program, which says, 'No,we're going to remove the life support from your precious 11-month-old child.'"

But the experimental treatment will not save Charlie's life, argue many top physicians in the U.K. If it would, doctors at Great Ormond wouldn't hesitate to administer it.

"I think it is disturbing to watch," Lewis said in an interview with CBC News. "I think sometimes, one loses sight of a very very unwell child. Because it becomes a kind ofpolitical circus in some sense."

Britain's top pediatrician,Neena Modi, wrote in an open letter,"Charlie's situation is heartbreaking for his parents, and difficult for everyone, including the doctors and nurses looking after him."

She said the interventions from high-profile figures are "unhelpful."

But as Charlie lies in his tiny hospital cot, with round-the-clock care, his parents believe all the international attention has "saved his life so far."

"We're not strong people, but what is strong is the love for our little boy,"said Chris Gard."He's kept us going through all of this."

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Baby Charlie remains on life support as parents fight doctors for experimental treatment - CBC.ca

Novel cancer treatment wins endorsement of FDA advisers – Washington Post

Food and Drug Administration advisers on Wednesday enthusiastically endorsed a first-of-its-kind cancer treatment that uses patients' revved-up immune cells to fight the disease, concluding that the therapy's benefits for desperately ill children far outweigh its potentially dangerous side effects.

The unanimous recommendation from theOncologic Drugs Advisory Committeemeans the treatment could be approved by the FDA by the end of September, forging a new path in the immunotherapy frontier.

8-year-old Ava Christiansen has been battling cancer for half her life. Now a new specialized cancer treatment may be able to keep her in remission. (Whitney Leaming/The Washington Post)

Timothy Cripe, a panel member who is an oncologist with Nationwide Children's Hospitalin Columbus, Ohio, called the treatment the "most exciting thing I've seen in my lifetime."

Novartis, the drugmaker behind the CAR T-cell therapy, is seeking approval to use it for children and young adults whose leukemia doesn't respond to traditional treatments a group that numbers 600 or so patientsa year in this country. But the approach also is being tested for a range of diseases from non-Hodgkin lymphoma and multiple myeloma to solid tumors.

If cleared by the FDA, it would be the first gene therapy approved in the United States. But unlike traditional gene therapy, the new treatment doesn't replace disease-causing genes with healthy ones. Instead, it uses technology to reprogram immune cells called T cells to target and attack malignancies.

When a patient is treated under the Novartis process, T cells are extracted from a patient's blood, frozen and sent to the company's plant in Morris Plains, N.J. There, the cells are genetically modified to attack the cancer, expanded in number, refrozen and shipped back to the patient for infusion.

Once inside the body, the cells multiply exponentially and go hunting for the CD19 protein, which appears on a kind of white blood cell that can give rise to diseases, such as leukemia and lymphoma.The turnaround time for manufacturing the therapy, called vein-to-vein time, will be an estimated 22 days, Novartis officials told the committee Wednesday.

From the start of Wednesday'smeeting, committee members made clear that they were not concerned about the treatment's efficacy, which has been well established 83 percent of patients went into remission in the pivotal Novartis trial. Rather, the panel homed in onhow to best to handle possible shot-term toxicities, as well as long-term safety risks and manufacturing quality.

Most patients in the Novartis study experienced something called cytokine release syndrome, which causes fever and flulike symptoms that can range from mild to extremely severe, said Stephan Grupp, an oncologist at the Children's Hospital of Philadelphia who led the Novartis trial. Some patients in that study also had neurological problems, including seizures and delirium. But there were no cases of fatal brain swelling, as occurred in another company's trial, Grupp said.

To try to ensure safety, Novartis is limiting the therapy's availability to 30 to 35 medical centers where personnel have had extensive training with the treatment. The company also plans to post Novartis employees at hospitals using the therapy and to follow patients for up to 15 years.

During the committee meeting, hundreds of people packed the hearing room at FDA headquarters in Silver Spring, Md., including prominent scientists, such as Carl June of the University of Pennsylvania, who developed the treatment. Though the FDA isn't required to follow the guidance of its advisory committees, it usually does.

David Maloney, medical director for cellular immunotherapy at Fred Hutchinson Cancer Research Center in Seattle, said he was elated that the field is moving forward. It represents a paradigm shift in treating cancers, said Maloney, who is extensively involved in CAR T-cell research but not in the Novartis product.

One of the big issues in CAR-T cell therapy the cost, which analysts say could be in the hundreds of thousands of dollars wasn't discussed because that is beyond the FDA's purview. Novartis hasn't released pricing information.

During the public comment portion of the hearing, Amy Kappen, whose 5-year-old daughter underwent CAR T-cell therapy in Philadelphia, called for approval. The treatment beat back her daughter's cancer and brought back the sparkle in her eyes. And while she died three months later, our children deserve this chance, Kappen said.

For other parents, there were happier outcomes. Don McMahon, whose son Connor was treated at Duke Children's Hospital in North Carolina, said the therapy was far less debilitating than what he endured on standard chemotherapy during two relapses. The boy, an avid hockey player, is doing well now.

Thomas Whitehead, whose daughter was the first pediatric patient to receive the treatment, choked up while telling panel members about Emily's experience. She got CAR T-cell therapy when she was 6 and close to death from leukemia. The treatment almost killed her, but she recovered and today is cancer free.

"If you want to see what a cure looks like for relapsed ALL [acute lymphoblastic leukemia], shes standing right beside me," said Whitehead, his voice cracking.

Read more:

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'This is not the end': Using immunotherapy and a genetic glitch to give cancer patients hope

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Novel cancer treatment wins endorsement of FDA advisers - Washington Post

High-tech solutions top the list in the fight against eye disease – Engadget

Cataracts are the single leading cause of blindness worldwide, afflicting roughly 42 percent of the global population, including more than 22 million Americans. The disease, which causes cloudy patches to form on the eye's normally clear lens, can require surgery if left untreated. That's why Google's DeepMind AI division has teamed with the UK's National Health Service (NHS) and Moorfields Eye Hospital to train a neural network that will help doctors diagnose early stage cataracts.

The neural network is being trained on a million anonymized optical coherence tomography (OCT) scans (think of a sonogram, but using light instead of sound waves) in the hopes it will eventually be able to supplement human doctors' analyses, increasing both the efficiency and accuracy of individual diagnoses.

"OCT has totally revolutionized the field of ophthalmology. It's an imaging system for translucent structures that utilizes coherent light," Dr. Julie Schallhorn, an assistant professor of ophthalmology at UC San Francisco, said. "It was first described in 1998 and it gives near-cell resolution of the cornea, retina and optic nerve.

"The optic nerve is only about 200 microns thick, but you can see every cell in it. It's given us a much-improved understanding of the pathogenesis of diseases and also their response to treatments." The new iteration of OCT also measures the phase-shift of refracted light, allowing doctors to resolve images down to the capillary level and observe the internal structures in unprecedented detail.

"We're great at correcting refractive errors in the eyes so we can give you good vision far away pretty reliably, or up close pretty reliably," Schallhorn continued. "But the act of shifting focus from distance to near requires different optical powers inside the eye. The way the eye handles this when you're young is through a process called 'accommodation.'" There's a muscle that contracts and changes the shape of the lens to help you focus on close objects. When you get older, even before you typically develop cataracts, the lens will stiffen and reduce the eye's ability to change its shape.

"The lenses that we have been putting in during cataract surgery are not able to mimic that [shapeshifting] ability, so people have to wind up wearing reading glasses," Schallhorn said. There's a lot of work in the field to find solutions for this issue and help restore the eye's accommodation.

There are two front-runners for that: Accommodating lenses, which use the same ciliary muscle to shift focus, and multifocal lenses, which work just like your parents' multifocal reading glasses except that they sit directly on the eye itself. The multifocals have been on the market for about a decade, though their design and construction has been refined over that time.

To ensure the lenses that doctors are implanting are just as accurate as the diseased ones they're removing, surgeons are beginning to use optiwave refractive analysis. Traditionally, doctors relied on measurements taken before the surgery to know how to shape the replacement lenses and combined those with nomograms to estimate how powerful the new lens should be.

The key word there is "estimate." "They especially have problems in patients who have already had refractive surgery like LASIK," Schallhorn explained. The ORA system, however, performs a wavefront measurement of the cornea after the cataract has been removed to help surgeons more accurately pick the right replacement lens for the job.

Corneal inlays are also being used. These devices resemble miniature contact lenses but sit in a pocket on the cornea that's been etched out with a LASIK laser to mimic the process of accommodation and provide a greater depth of focus. They essentially serve the same function as camera apertures. The Kamra lens from AcuFocus and the Raindrop Near Vision Inlay from Revision Optics are the only inlays approved by the FDA for use in the US.

Glaucoma afflicts more than 70 million people annually. This disease causes fluid pressure within the eye to gradually increase, eventually damaging the optic nerve that carries electrical signals from the eye to the brain. Normally, detecting the early stages of glaucoma requires a comprehensive eye exam by a trained medical professional -- folks who are often in short supply in rural and underserved communities. However, the Cambridge Consultants' Viewi headset allows anyone to diagnose the disease -- so long as they have a smartphone and 10 minutes to spare.

The Viewi works much like the Daydream View, wherein the phone provides the processing power for a VR headset shell -- except, of course, that instead of watching 360 degree YouTube videos, the screen displays the flashing light patterns used to test for glaucoma. The results are reportedly good enough to share with you eye doctor and take only about five minutes per eye. Best of all, the procedure costs only about $25, which makes it ideal for use in developing nations.

And while there is no known cure for glaucoma, a team of researchers from Stanford University may soon have one. Last July, the team managed to partially restore the vision of mice suffering from a glaucoma-like condition.

Normally, when light hits your eye, specialized cells in the retina convert that light into electrical signals. These signals are then transmitted via retinal ganglion cells, whose long appendages run along the optic nerve and spread out to various parts of the brain's visual-processing bits. But if the optic nerve or the ganglion cells have been damaged through injury or illness, they stay damaged. They won't just grow back like your olfactory sensory nerve.

However, the Stanford team found that subjecting mice to a few weeks of high-contrast visual stimulation after giving them drugs to reactivate the mTOR pathway, which has been shown to instigate new growth in ganglion cells, resulted in "substantial numbers" of new axons. The results are promising, though the team will need to further boost the rate and scope of axon growth before the technique can be applied to humans.

Researchers from Japan have recently taken this idea of cajoling the retina into healing itself and applied it to age-related macular degeneration cases. AMD primarily affects people aged 60 and over (hence the name). It slowly kills cells in the macula, the part of the eye that processes sharp detail, and causes the central focal point of their field of vision to deteriorate, leaving only the peripheral.

The research team from Kyoto University and the RIKEN Center for Developmental Biology first took a skin sample from a human donor, then converted it into induced pluripotent stem (IPS) cells. These IPS cells are effectively blank slates and can be coerced into redeveloping into any kind of cell you need. By injecting these cells into the back of the patient's eye, they should regrow into retinal cells.

In March of this year, the team implanted a batch of these cells into a Japanese sexagenarian who suffers from AMD in the hope that the stem cells would take hold and halt, if not begin to reverse, the damage to his macula. The team has not yet been able to measure the efficacy of this treatment but, should it work out, the researchers will look into creating a stem-cell bank where patients could immediately obtain IPS cells for their treatment rather than wait months for donor samples to be converted.

And while there isn't a reliable treatment for dry-AMD, wherein fatty protein deposits damage the Bruchs membrane, a potent solution for wet-AMD, which involves blood leaking into the eyeball, has been discovered in a most unlikely place: cancer medication. "Genentech started developing a new drug when an ophthalmologist in Florida just decided to inject the commercially available drug into patients eyes," Schallhorn explained.

"Generally this is not a great idea because sometimes things will go terribly wrong," she continued, "but this worked super-well. It basically stops and reverses the growth of these blood vessels." The only problem is that the drugs don't last, requiring patients to receive injections into their eyeballs every four to eight weeks. Genentech and other pharma companies are working to reformulate the drug -- or at least develop a mechanical "reservoir" -- so it has to be injected only once or twice a year.

Stem-cell treatments like those used in the Kyoto University trial have already proved potentially effective against a wide range of genomic diseases, so why shouldn't it work on the rare genetic condition known as choroideremia? This disease is caused by a single faulty gene and primarily affects young men. Similar to AMD, choroideremia causes light-sensitive cells at the back of the eye to slowly wither and die, resulting in partial to complete blindness.

In April of 2016, a team of researchers from Oxford University performed an experimental surgery on a 24-year-old man suffering from the disease. They first injected a small amount of liquid into the back of the eye to lift a section of the retina away from the interior cellular wall. The team then injected functional copies of the gene into that same cavity, replacing the faulty copies and not only halting the process of cellular death but actually restoring a bit of the patient's vision.

Gene therapy may be "surely the most efficient way of treating a disease," lead author of the study, Oxford professor Robert MacLaren, told BBC News, but its widespread use is still a number of years away. Until then, good old-fashioned gadgetry will have to suffice. Take the Argus II, for example.

The Argus II bionic eye from Second Sight has been in circulation since 2013, when the FDA approved its use in treating retinitis pigmentosa. It has since gotten the go-ahead for use with AMD in 2015. The system leverages a wireless implant which sits on the retina and receives image data from an external camera that's mounted on a pair of glasses. The implant converts that data into an electrical signal which stimulates the remaining retinal cells to generate a visual image.

The Argus isn't the only implantable eyepiece. French startup Pixium Vision developed a similar system, the IRIS II, back in 2015 and implanted it in a person last November after receiving clearance from the European Union. The company is already in talks with the FDA to bring its IRIS II successor, a miniaturized wireless subretinal photovoltaic implant called PRIMA, to US clinical trials by the end of this year.

Ultimately, the goal is to be able to replace a damaged or diseased eye entirely, if necessary, using a robotic prosthetic. However, there are still a number of technological hurdles that must be overcome before that happens, as Schallhorn explained.

"The big thing that's holding us back from a fully functional artificial eye is that we need to find a way to interface with the optic nerve and the brain in a way that we transmit signals," she said. "That's the same problem we're facing with prosthetic limbs right now. But there are a lot of smart people in the field working on that, and I'm sure they'll come up with something soon."

Read more:
High-tech solutions top the list in the fight against eye disease - Engadget

‘Prehab’ therapy helps cancer patients prepare for treatment – KTBS

Receiving a cancer diagnosis is overwhelming, emotional and traumatic for patients. Usually, there's so much information given to them at one time that it's hard to remember all the details about their treatment.

Some doctors want to make sure patients are armed and ready for their cancer journey, and they're doing it through a new type of therapy dubbed 'prehab.' It's a way for patients to learn about lifestyle changes, exercises and signs of a more serious side effect before they start their treatment.

It was just a few months ago when Deanna Miller got the news that there was something suspicious on her mammogram.

"I thought it was just a cyst. I'm sure the biopsies will come back negative," she recalled.

But it wasn't.

"When I got the result, that's when it hit me. It's cancer!" said Miller.

Doctors diagnosed Miller with stage 3A Breast Cancer and ordered BRCA testing.

"It wasn't until I had the BRCA testing that it really kicked in because now I have a genetic problem on top of having cancer," explained Miller.

Knowing that she carried the gene, Miller used this knowledge as a way to help the future health of her family and to fight.

"I never had the opportunity to cry again," she said.

Miller's doctor is Dr. Frankie Holmes, an oncologist affiliated withMemorial Hermann Memorial City Medical Center. Dr. Holmes recommended Miller visit occupational therapist Emilia Dewi at TIRR Memorial Hermann Outpatient Rehabilitation at Memorial Hermann Memorial City Medical City.

"Prehab is basically part of a continuing care that starts at diagnosis to the treatment of the disease, whether it be surgery, chemotherapy, radiation," explained Dewi.

Dewi works primarily with breast cancer patients who often suffer from lymphedema. She measures range of motion and volume in the arms as a baseline.

"I give my patients specific activities and restrictions and exercises post-surgery," Dewi said. "Patients don't know what to do post-surgery, and they don't know what to look for."

Dewi also explained the warning signs.

"For lymphedema, I tell patients to look for skin wrinkling. We watch for signs of heaviness. Also, if they can't see their vein anymore," explained Dewi.

Miller knew how to respond to her symptoms thanks to Dewi.

"The prehab made me aware of the symptoms. They are subtle and they can be confused with the surgery and swelling," said Miller.

Memorial Hermann also offers prehab for head, neck and throat cancer patients where they can learn swallowing exercises to help them post-surgery. Other patients may receive fitness training to combat the weakness and fatigue of cancer treatment.

As for Miller, she's still on her journey and doing well. She has a couple more chemo treatments and radiation, and we wish her the best.

Nicole Cross - Evening News Anchor/Health Correspondent

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'Prehab' therapy helps cancer patients prepare for treatment - KTBS

Tumor gene testing urged to tell if drug targets your cancer – The … – The Mainichi

In this 2015 family photo, Catherine "Katie" Rosenbaum is seen at a cancer fundraiser by Swim Across America. The Richmond, Va., womans endometrial cancer was successfully treated in a research study that found the immunotherapy Keytruda can target certain tumors that share a particular genetic flaw. (Family photo provided by Katie Rosenbaum via AP)

WASHINGTON (AP) -- Colon cancer. Uterine cancer. Pancreatic cancer. Whatever the tumor, the more gene mutations lurking inside, the better chance your immune system has to fight back.

That's the premise behind the recent approval of a landmark drug, the first cancer therapy ever cleared based on a tumor's genetics instead of the body part it struck first. Now thousands of patients with worsening cancer despite standard treatment can try this immunotherapy -- as long as genetic testing of the tumor shows they're a candidate.

"It's like having a lottery ticket," said Johns Hopkins oncologist Dr. Dung Le, who helped prove the new use for the immunotherapy Keytruda. "We've got to figure out how to find these patients, because it's such a great opportunity for them."

Today, doctors diagnose tumors by where they originate -- breast cancer in the breast, colon cancer in the colon -- and use therapies specifically tested for that organ. In contrast, the Food and Drug Administration labeled Keytruda the first "tissue-agnostic" treatment, for adults and children.

The reason: Seemingly unrelated cancers occasionally carry a common genetic flaw called a mismatch repair defect. Despite small studies, FDA found the evidence convincing that for a subset of patients, that flaw can make solid tumors susceptible to immunotherapy doctors otherwise wouldn't have tried.

"We thought these would be the hardest tumors to treat. But it's like an Achilles heel," said Hopkins cancer geneticist Bert Vogelstein.

And last month FDA Commissioner Scott Gottlieb told a Senate subcommittee his agency will simplify drug development for diseases that "all have a similar genetic fingerprint even if they have a slightly different clinical expression."

It's too early to know if what's being dubbed precision immunotherapy will have lasting benefits, but here's a look at the science.

WHO'S A CANDIDATE?

Hopkins estimates about 4 percent of cancers are mismatch repair-deficient, potentially adding up to 60,000 patients a year. Widely available tests that cost $300 to $600 can tell who's eligible. The FDA said the flaw is more common in colon, endometrial and gastrointestinal cancers but occasionally occurs in a list of others.

"Say, 'have I been tested for this?'" is Le's advice for patients.

MUTATIONS AND MORE MUTATIONS

Most tumors bear 50 or so mutations in various genes, Vogelstein said. Melanomas and lung cancers, spurred by sunlight and tobacco smoke, may have twice as many. But tumors with a mismatch repair defect can harbor 1,500 mutations.

Why? When DNA copies itself, sometimes the strands pair up wrong to leave a typo -- a mismatch. Normally the body spell checks and repairs those typos. Without that proofreading, mutations build up, not necessarily the kind that trigger cancer but bystanders in a growing tumor.

THE PLOT THICKENS

Your immune system could be a potent cancer fighter except that too often, tumors shield themselves. Merck's Keytruda and other so-called checkpoint inhibitors can block one of those shields, allowing immune cells to recognize a tumor as a foreign invader and attack. Until now, those immunotherapies were approved only for a few select cancers -- Keytruda hit the market for melanoma in 2014 -- and they work incredibly well for some patients but fail in many others. Learning who's a good candidate is critical for drugs that can cost $150,000 a year and sometimes cause serious side effects.

In 2012, Hopkins doctors testing various immunotherapies found the approach failed in all but one of 20 colon cancer patients. When perplexed oncologists told Vogelstein, "a light bulb went off."

Sure enough, the one patient who fared well had a mismatch repair defect and a "mind-boggling" number of tumor mutations. The more mutations, the greater the chance that at least one produces a foreign-looking protein that is a beacon for immune cells, Vogelstein explained.

It was time to see if other kinds of cancer might respond, too.

WHAT'S THE DATA?

The strongest study, published in the journal Science, tested 86 such patients with a dozen different cancers, including some who had entered hospice. Half had their tumors at least shrink significantly, and 18 saw their cancer become undetectable.

It's not clear why the other half didn't respond. Researchers found a hint, in three patients, that new mutations might form that could resist treatment.

But after two years of Keytruda infusions, 11 of the "complete responders" have stopped the drug and remain cancer-free for a median of eight months and counting.

Catherine "Katie" Rosenbaum, 67, is one of those successes. The retired teacher had her uterus removed when endometrial cancer first struck, but five years later tumors returned, scattered through her pelvis and colon. She tried treatment after treatment until in 2014, her doctor urged the Hopkins study.

Rosenbaum took a train from Richmond, Virginia, to Baltimore for infusions every two weeks and then, after some fatigue and diarrhea side effects, once a month. Then the side effects eased and her tumors started disappearing. A year into the study she was well enough to swim a mile for a Swim Across America cancer fundraiser.

"Nothing else had worked, so I guess we could say it was a last hope," said Rosenbaum, who now wants other patients to know about the option.

Here is the original post:
Tumor gene testing urged to tell if drug targets your cancer - The ... - The Mainichi

Charlie Gard: Medical experts weigh in on case of terminally-ill baby – The Independent

Medical experts are seeking out as the case of ill baby Charlie Gard becomes an international incident.

The parents' hope that their terminally-ill child can be saved through experimental treatment has led to a series of court cases, along with interventions from Donald Trump and the Pope. The case revolves around whether the parents should be allowed to take the child to the US using money they've raised a move they hope would offer a chance of treating his illness, but which experts believe could cause more suffering to Charlie and has very little to no chance of success.

But medical experts suggest that the case is far more complex than the often simplistic tabloid coverage and presidential tweets may suggest. The courts have proven there is very little hope of the young boy being saved, they say but there is still some, mostly insignificant, chance that he could be, and could have been in the past.

Poor Charlie has a very rare disease in which the organelle which provides energy source used in daily cell life, called the mitochondrion, has a gene defect. The reason mitochondrial diseases are rare is because they are usually fatal. They show up in babies or young children more often than in later life. If not fatal they are progressive and cause serious neurological illnesses which cannot be cured.

Charlie has one of those most severe of mitochondrial diseases and is untreatable. Medicine is advancing at a wonderful speed but some illnesses are still fatal.

Gene therapy is in its infancy and is a promising field of human endeavour. But there are 6000 inheritable recessive conditions in humans - the prospect of them being cured is some time off.

When a decision to withdraw life support is made for a baby this is not taken lightly and there are often tears in the medical and nursing staff looking after such a baby. But ultimately there is not a cure for many rare diseases. 40% of all rare diseases are in children under age 5 years, and of those most are fatal. The combined burden of such conditions in the UK is such that 1 in 300 people have a rare disease.

Scientists and medical technology companies are making strides to find cures or treatments for many conditions. But alas, in the case of poor little Charlie, there are simply limits to medicine as we know it.

Estimates as to the success of any potential treatment vary but from almost impossible to impossible. But experts agree that there is little help in discussing those chances, because Charlie is now so ill that any benefits from treatment have been undermined.

"The theoretical possibility of benefit from the nucleoside treatment had disappeared after Charlie suffered brain damage from seizures earlier this year," said Penney Lewis, professor of law and co-director of the Centre of Medical Law and Ethics at King's College London. "These findings were based on extensive evidence from all of those involved in caring for Charlie, and from a number of independent experts including one chosen by Charlies parents, and the doctor based in the US who is offering to treat Charlie."

Many experts agree that Charlie Gard should perhaps have been sent to undergo the treatment earlier on his life, at a point when his illness had caused fewer problems. Doing that would at least have allowed for a clearer view of whether the treatment would succeed, and if there was value in prolonging his life.

Charlie Gard should have been allowed to go to the US for experimental treatment back in April (or better January when it was first considered), not because he would have been cured but just because we couldn't then be confident his life would have been "intolerable", or not worth living," said Julian Savulescu, who is the Uehiro Chair in Practical Ethics at the University of Oxford. "The rational strategy was to give a trial of treatment, say 3 months, and agree with the family to withdraw ventilation if there was no improvement. If this had been done we would now have some information on whether there is any prospect of improvement.

This is not a religious or right to life argument, or an argument based on compassion," Professor Savulesco said. "It's a secular ethical argument about the extreme complexity of judging someone's life to be not worth living, or the prospects of having a life worth living not worth taking. The courts have deferred to one group of doctors who are experts in the facts but they are not experts in the ethics.

More than six months have passed since experimental therapy was first considered. We don't know how bad Charlie's brain damage is now. Whether experimental therapy is still warranted depends on whether there remains any prospect of any meaningful life. Perhaps the moment has passed.

Here is the original post:
Charlie Gard: Medical experts weigh in on case of terminally-ill baby - The Independent

Tumor gene testing urged to tell if drug targets your cancer | KRQE … – KRQE News 13

WASHINGTON (AP) Colon cancer. Uterine cancer. Pancreatic cancer. Whatever the tumor, the more gene mutations lurking inside, the better chance your immune system has to fight back.

Thats the premise behind the recent approval of a landmark drug, the first cancer therapy ever cleared based on a tumors genetics instead of the body part it struck first. Now thousands of patients with worsening cancer despite standard treatment can try this immunotherapy as long as genetic testing of the tumor shows theyre a candidate.

Its like having a lottery ticket, said Johns Hopkins oncologist Dr. Dung Le, who helped prove the new use for the immunotherapy Keytruda. Weve got to figure out how to find these patients, because its such a great opportunity for them.

Today, doctors diagnose tumors by where they originate breast cancer in the breast, colon cancer in the colon and use therapies specifically tested for that organ. In contrast, the Food and Drug Administration labeled Keytruda the first tissue-agnostic treatment, for adults and children.

The reason: Seemingly unrelated cancers occasionally carry a common genetic flaw called a mismatch repair defect. Despite small studies, FDA found the evidence convincing that for a subset of patients, that flaw can make solid tumors susceptible to immunotherapy doctors otherwise wouldnt have tried.

We thought these would be the hardest tumors to treat. But its like an Achilles heel, said Hopkins cancer geneticist Bert Vogelstein.

And last month FDA Commissioner Scott Gottlieb told a Senate subcommittee his agency will simplify drug development for diseases that all have a similar genetic fingerprint even if they have a slightly different clinical expression.

Its too early to know if whats being dubbed precision immunotherapy will have lasting benefits, but heres a look at the science.

WHOS A CANDIDATE?

Hopkins estimates about 4 percent of cancers are mismatch repair-deficient, potentially adding up to 60,000 patients a year. Widely available tests that cost $300 to $600 can tell whos eligible. The FDA said the flaw is more common in colon, endometrial and gastrointestinal cancers but occasionally occurs in a list of others.

Say, have I been tested for this?' is Les advice for patients.

MUTATIONS AND MORE MUTATIONS

Most tumors bear 50 or so mutations in various genes, Vogelstein said. Melanomas and lung cancers, spurred by sunlight and tobacco smoke, may have twice as many. But tumors with a mismatch repair defect can harbor 1,500 mutations.

Why? When DNA copies itself, sometimes the strands pair up wrong to leave a typo a mismatch. Normally the body spell checks and repairs those typos. Without that proofreading, mutations build up, not necessarily the kind that trigger cancer but bystanders in a growing tumor.

THE PLOT THICKENS

Your immune system could be a potent cancer fighter except that too often, tumors shield themselves. Mercks Keytruda and other so-called checkpoint inhibitors can block one of those shields, allowing immune cells to recognize a tumor as a foreign invader and attack. Until now, those immunotherapies were approved only for a few select cancers Keytruda hit the market for melanoma in 2014 and they work incredibly well for some patients but fail in many others. Learning whos a good candidate is critical for drugs that can cost $150,000 a year and sometimes cause serious side effects.

In 2012, Hopkins doctors testing various immunotherapies found the approach failed in all but one of 20 colon cancer patients. When perplexed oncologists told Vogelstein, a light bulb went off.

Sure enough, the one patient who fared well had a mismatch repair defect and a mind-boggling number of tumor mutations. The more mutations, the greater the chance that at least one produces a foreign-looking protein that is a beacon for immune cells, Vogelstein explained.

It was time to see if other kinds of cancer might respond, too.

WHATS THE DATA?

The strongest study, published in the journal Science, tested 86 such patients with a dozen different cancers, including some who had entered hospice. Half had their tumors at least shrink significantly, and 18 saw their cancer become undetectable.

Its not clear why the other half didnt respond. Researchers found a hint, in three patients, that new mutations might form that could resist treatment.

But after two years of Keytruda infusions, 11 of the complete responders have stopped the drug and remain cancer-free for a median of eight months and counting.

Catherine Katie Rosenbaum, 67, is one of those successes. The retired teacher had her uterus removed when endometrial cancer first struck, but five years later tumors returned, scattered through her pelvis and colon. She tried treatment after treatment until in 2014, her doctor urged the Hopkins study.

Rosenbaum took a train from Richmond, Virginia, to Baltimore for infusions every two weeks and then, after some fatigue and diarrhea side effects, once a month. Then the side effects eased and her tumors started disappearing. A year into the study she was well enough to swim a mile for a Swim Across America cancer fundraiser.

Nothing else had worked, so I guess we could say it was a last hope, said Rosenbaum, who now wants other patients to know about the option.

View original post here:
Tumor gene testing urged to tell if drug targets your cancer | KRQE ... - KRQE News 13

Tumor gene testing urged to tell if drug targets your cancer – ABC News

Colon cancer. Uterine cancer. Pancreatic cancer. Whatever the tumor, the more gene mutations lurking inside, the better chance your immune system has to fight back.

That's the premise behind the recent approval of a landmark drug, the first cancer therapy ever cleared based on a tumor's genetics instead of the body part it struck first. Now thousands of patients with worsening cancer despite standard treatment can try this immunotherapy as long as genetic testing of the tumor shows they're a candidate.

"It's like having a lottery ticket," said Johns Hopkins oncologist Dr. Dung Le, who helped prove the new use for the immunotherapy Keytruda. "We've got to figure out how to find these patients, because it's such a great opportunity for them."

Today, doctors diagnose tumors by where they originate breast cancer in the breast, colon cancer in the colon and use therapies specifically tested for that organ. In contrast, the Food and Drug Administration labeled Keytruda the first "tissue-agnostic" treatment, for adults and children.

The reason: Seemingly unrelated cancers occasionally carry a common genetic flaw called a mismatch repair defect. Despite small studies, FDA found the evidence convincing that for a subset of patients, that flaw can make solid tumors susceptible to immunotherapy doctors otherwise wouldn't have tried.

"We thought these would be the hardest tumors to treat. But it's like an Achilles heel," said Hopkins cancer geneticist Bert Vogelstein.

And last month FDA Commissioner Scott Gottlieb told a Senate subcommittee his agency will simplify drug development for diseases that "all have a similar genetic fingerprint even if they have a slightly different clinical expression."

It's too early to know if what's being dubbed precision immunotherapy will have lasting benefits, but here's a look at the science.

WHO'S A CANDIDATE?

Hopkins estimates about 4 percent of cancers are mismatch repair-deficient, potentially adding up to 60,000 patients a year. Widely available tests that cost $300 to $600 can tell who's eligible. The FDA said the flaw is more common in colon, endometrial and gastrointestinal cancers but occasionally occurs in a list of others.

"Say, 'have I been tested for this?'" is Le's advice for patients.

MUTATIONS AND MORE MUTATIONS

Most tumors bear 50 or so mutations in various genes, Vogelstein said. Melanomas and lung cancers, spurred by sunlight and tobacco smoke, may have twice as many. But tumors with a mismatch repair defect can harbor 1,500 mutations.

Why? When DNA copies itself, sometimes the strands pair up wrong to leave a typo a mismatch. Normally the body spell checks and repairs those typos. Without that proofreading, mutations build up, not necessarily the kind that trigger cancer but bystanders in a growing tumor.

THE PLOT THICKENS

Your immune system could be a potent cancer fighter except that too often, tumors shield themselves. Merck's Keytruda and other so-called checkpoint inhibitors can block one of those shields, allowing immune cells to recognize a tumor as a foreign invader and attack. Until now, those immunotherapies were approved only for a few select cancers Keytruda hit the market for melanoma in 2014 and they work incredibly well for some patients but fail in many others. Learning who's a good candidate is critical for drugs that can cost $150,000 a year and sometimes cause serious side effects.

In 2012, Hopkins doctors testing various immunotherapies found the approach failed in all but one of 20 colon cancer patients. When perplexed oncologists told Vogelstein, "a light bulb went off."

Sure enough, the one patient who fared well had a mismatch repair defect and a "mind-boggling" number of tumor mutations. The more mutations, the greater the chance that at least one produces a foreign-looking protein that is a beacon for immune cells, Vogelstein explained.

It was time to see if other kinds of cancer might respond, too.

WHAT'S THE DATA?

The strongest study, published in the journal Science, tested 86 such patients with a dozen different cancers, including some who had entered hospice. Half had their tumors at least shrink significantly, and 18 saw their cancer become undetectable.

It's not clear why the other half didn't respond. Researchers found a hint, in three patients, that new mutations might form that could resist treatment.

But after two years of Keytruda infusions, 11 of the "complete responders" have stopped the drug and remain cancer-free for a median of eight months and counting.

Catherine "Katie" Rosenbaum, 67, is one of those successes. The retired teacher had her uterus removed when endometrial cancer first struck, but five years later tumors returned, scattered through her pelvis and colon. She tried treatment after treatment until in 2014, her doctor urged the Hopkins study.

Rosenbaum took a train from Richmond, Virginia, to Baltimore for infusions every two weeks and then, after some fatigue and diarrhea side effects, once a month. Then the side effects eased and her tumors started disappearing. A year into the study she was well enough to swim a mile for a Swim Across America cancer fundraiser.

"Nothing else had worked, so I guess we could say it was a last hope," said Rosenbaum, who now wants other patients to know about the option.

This Associated Press series was produced in partnership with the Howard Hughes Medical Institute's Department of Science Education. The AP is solely responsible for all content.

This story is part of Genetic Frontiers, AP's ongoing exploration of the rapidly growing understanding of DNA and new attempts to manipulate it.

Continued here:
Tumor gene testing urged to tell if drug targets your cancer - ABC News

Cancer treatment is swiftly moving toward individualized molecular and genetic tools that Sparrow Cancer Center’s … – City Pulse

Field notes from a revolution in cancer treatment

Any cancer center, no matter how cutting edge its technology or cheerful its design, is a place where people get bad news.

But theres more good news about cancer treatment than most people think, and the game is changing month by month.

Cancer treatment is swiftly moving toward individualized molecular and genetic tools that Sparrow Cancer Centers director, James Herman, hopes will replace what he calls MOAB (Mother of All Bombs) forms of treatment such as radiation and chemotherapy.

Oncologist Tim McKenna, director of Sparrows breast clinic, has been in practice over 35 years. He said he more optimistic now than he has ever been.

I can see where maybe breast cancer surgeons will be standing on street corners with cardboard signs, McKenna said.

Already, many of McKennas patients never get a mastectomy or lumpectomy. Treatment that combines chemotherapy with monoclonal antibodies that target a patients particular cancer can get rid of a tumor without surgery in many cases.

McKenna said they take a couple of core samples and say, You know what? I guess there isnt any cancer left. Youre done. I predict that in 15 years, 20 years, that will be 90 percent of the cure.

Corrie Bourdon called it a brave new world, amazing and life-saving. As the cancer genetic counselor, a position created a year ago especially for her, Bourdon is Sparrows newest staff member and a herald of that new world.

If you remember the 90s sci-fi movie, Gattaca, its becoming real life, Bourdon said.

Now, when cancer is detected, on cologists ask a whole new set of questions, using a strange new vocabulary. McKenna rattled off a few of the big ones: Is the cancer estrogen receptor positive? Does it overexpress her2/neu? Whats the Oncotype score? Whats the MammaPrint score?

To sample just one spoonful of that jargon stew, MammaPrint is a 70-gene map of the cancer itself, a genetic analysis that helps doctors decide if systemic treatment is warranted, even though they cant prove the cancer might be somewhere else.

It allows us to predict recurrence down the road and take steps now, McKenna said.

Like the genetic engineers of Gattaca, Bourdon tests families for genes that predispose them to cancer. (People sometimes ask Bourdon if she designs babies. She tells them she doesnt.)

If a person carries the mutation, the next step is extra screening or even preventative surgery to keep them from getting the cancer.

The advances are exponentially increasing, she said. Cancer treatment and genetics are converging very, very quickly, if they are not already converged.

Until recently, as Sparrow oncologist Joseph Meunier explained it, many chemotherapy drugs have been designed to treat a particular type of cancer, based on the part of the body affected, such as lung or breast cancer.

But recently, Meunier and his team have been successful doing things they never thought they would do, like treating ovarian cancer with skin cancer drugs.

They wouldnt have thought of trying such a thing five years ago, because no body knew the two forms of cancer had the same genetic mutation in common.

Just the leaps for ward in the last 18 months its been absolutely unbelievable, Meunier said.

A month ago, the FDA approved a chemotherapy type drug for the treatment of a genetic mutation, regardless of the organ of origin.

Thats the first time thats ever happened, Meunier said. I cant even imagine, in the next 10 or 20 years, the way we look at therapy altogether is going to be entirely different.

Genetically tailored treatment is not a silver bullet, though. Bourdon said the environment still plays a huge role in how people get cancer.

Exposures to chemicals, pesticides, or they worked in a factory, Bourdon said. Ive heard a lot about the Dow Chemical Plant in Michigan. Or if someone was in the military, who knows what they were exposed to? But cancers have genes of their own that can be unlocked and, perhaps, manipulated to their distinct disadvantage.

I would not be surprised at all if we actually have a cure for cancer in the next 10, 20 years, or weve at least made such advancements that you just go to your doctor and take a pill to fix your gene and youre cured, Bourdon said.

Gordan Srkalovic, oncologist and director of Sparrows clinical trials program, took a more circumspect view. Srkalovic has been an oncologist for 18 years and did basic oncology research before that. He has been at Sparrow 14 years.

Are we going to conquer cancer? is a loaded question, he said. I dont think we will be able to cure every patient with cancer, at least not in my lifetime.

Its more likely, Srkalovic said, that cancer will be cut down to size, from a deadly, progressive disease to a chronic one that can be treated, comparable to hypertension or high blood pressure, and thats already happening.

The goal at the present is to reduce the burden of disease to the point the patient could have cancer cells, but the cancer is controlled, he said.

Its a more modest prognosis, but still a dramatic leap from cancer outcomes a generation ago.

When I started, you took a Magic Marker and you put an X over where you thought the cancer was, Herman said. Then Id pretend Id know what was going on with the treatment.

The cure rate for cancer has gone from 30 percent to 70 percent since Herman entered the field over 35 years ago.

That means the cancer is gone and they die of something else, he said. You dont hear about that 70 percent. They carry on and live their life. Its a revolution.

So McKenna may end up on a street corner with his cardboard sign after all. It seems perverse to dream of tearing down a building thats brand new, but the Herbert-Herman Cancer Center is a special case.

We love helping patients and curing them, but it would be amazing if we were all out of a job, Bourdon said.

I hope it is the last cancer center, Meunier said. I hope we dont have to build a new one again.

Will we be able to get rid of buildings like this? I hope so, Herman said. Herman is entitled to say that, with his name is on the place and all.

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Cancer treatment is swiftly moving toward individualized molecular and genetic tools that Sparrow Cancer Center's ... - City Pulse

What to Know About Charlie Gard, the Terminally Ill Baby Trump Wants to Help – TIME

President Donald Trump and Pope Francis have voiced their support for the parents of critically ill British baby Charlie Gard. The pair have been engaged in a long legal battle to take their son to the U.S. for treatment for a rare genetic disease.

Who is Charlie Gard, and why is his case so significant? Here's what you should know.

In September 2016, Charlie Gard, who's now 10 months old, was diagnosed with a rare genetic condition called mitochondrial depletion syndrome, which causes progressive muscle weakness and brain damage. He cannot move his limbs or eat or breathe without assistance.

His parents, Chris Gard and Connie Yates, are both carriers of the faulty gene, but were unaware of it until Charlie turned three months old. According to a fundraising page they set up, Charlie is only the sixteenth known person in the world with the condition.

Charlie's parents believe an experimental medication offered in the U.S. may be able to help the child, who is on life support.

"After endlessly researching and speaking to [doctors] all over the world we found hope in a medication that may help him and a [doctor] in America has accepted him in his hospital," wrote the parents on Charlie's fundraising page. "It hasn't been tried on anyone with his gene before . . . but it's had success with another mitochondrial depletion syndrome called TK2 which is similar."

Gard and Yates added that they "strongly feel . . . Charlie should get a chance to try these medications" and he has "literally has nothing to lose but potentially a healthier, happier life to gain."

The pair set up a GoFundMe page to help raise money to send Charlie to the U.S. They raised 1.3 million ($1.68 million) in five months, with donations from 83,563 people.

Charlie's doctors at London's Great Ormond Street Hospital for Children, or GOSH, believe there is no cure for his condition, which is terminal.

A statement on the hospital's website explains that "GOSH explored various treatment options" including nucleoside therapy, the experimental treatment offered by the U.S. hospital. "GOSH concluded that the experimental treatment, which is not designed to be curative, would not improve Charlies quality of life," the statement says.

After balancing whether the experimental treatment was in Charlie's best interests or not, the GOSH doctors said they thought it would be best to stop providing life support for Charlie and instead move on to a palliative care regime, allowing him to "die with dignity."

"One of the factors that influenced this decision was that Charlies brain was shown to be extensively damaged at a cellular level. The clinician in the U.S. who is offering the treatment agrees that the experimental treatment will not reverse the brain damage that has already occurred," the statement says.

"The entire highly experienced U.K. team, all those who provided second opinions and the consultant instructed by the parents all agreed that further treatment would be futile meaning it would be pointless or of no effective benefit," it adds.

Because Charlie's parents disagreed with the doctors' decision about Charlie's future treatment, the decision went to the Family Division of Britain's High Court in London.

The High Court ruled last April "with the heaviest of hearts" that it was in Charlie's best interests for GOSH to "lawfully withdraw all treatment save for palliative care to permit Charlie to die with dignity.

The judge said his decision not to allow Charlie to go to the U.S. was not related to funding. I dare say that medical science may benefit objectively from the experiment, but experimentation cannot be in Charlies best interests unless there is a prospect of benefit for him," he said, referring to the trial treatment, The Guardian reported at the time.

On May 2, the couple took their fight to the Court of Appeal, asking the judges not to take away the only remaining hope." However, on May 25, three Court of Appeal judges upheld the High Court ruling. Britain's Supreme Court then agreed to review the case, but ruled that Charlie's life support must be switched off.

Charlie's parents took the case to the European Court of Human Rights (ECHR). But on June 27, the ECHR ruled that, in agreement with the domestic courts' ruling, "undergoing experimental treatment with no prospects of success" would offer Gard "no benefit, and continue to cause him significant harm. In a statement acquired by The Guardian, the ECHR declared the decision as "final."

Our thoughts are with Charlies parents on receipt of this news that we know will be very distressing for them," said a spokesperson for GOSH. "Todays decision by the European court of human rights marks the end of what has been a very difficult process and our priority is to provide every possible support to Charlies parents as we prepare for the next steps."

In a Facebook post , Charlie's parents wrote that they are "utterly heartbroken." The post added: "We're not allowed to choose if our son lives and we're not allowed to choose when or where Charlie dies. We and most importantly Charlie have been massively let down throughout this whole process."

Following the ECHR's decision, campaigners gathered at Buckingham Palace to protest the ruling, chanting "save Charlie Gard" and "release Charlie Gard" and holding placards, with one reading, "It's murder."

"If we can help little # CharlieGard, as per our friends in the U.K. and the Pope, we would be delighted to do so," wrote Trump on Twitter Monday morning.

His comment came one day after Pope Francis said in a statement that he was following the case "with affection and sadness," adding that he was praying that Gard's parents' "wish to accompany and treat their child until the end isnt neglected.

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What to Know About Charlie Gard, the Terminally Ill Baby Trump Wants to Help - TIME

Why the super-rich are ploughing billions into the booming ‘immortality industry’ – Evening Standard

Imagine a world in which youre 90 years old and nowhere near middle-aged. An app on your phone has hacked your DNA code, so you know exactly when to go to the doctor to receive gene therapy to prevent all the diseases you dont yet have. A microchip in your skin sends out a signal if youre at risk of developing a wrinkle so you step out of the sun and hotfoot it to your dermatologist. Every evening you sync your brain-mapping device with The Cloud, so even if you were caught up in a fatal accident youd still be able to cheat death every detail of your life would simply be downloaded to one of the perfect silicon versions youd had made of yourself, ensuring you last until at least your 1,000th birthday.

This may sound like science fiction but it could be your fate provided you can afford it. If current research develops into medicine, in the London of the future the super-rich wont simply be able to buy the best things in life, theyll be able to buy life itself by transforming themselves into a bio-engineered super-race, capable of living, if not forever, then for vastly longer than the current UK life expectancy of 81 years.

The science of turning back the clock has never been more advanced. In Boston, a drug capable of reversing half a lifetime of ageing in mice is about to be tested on humans in a medical trial monitored by Nasa. NMN is a compound found naturally in broccoli which boosts levels of NAD, a protein involved in energy production that depletes as we get older. Professor David Sinclair, who headed up the initial research at Australias University of New South Wales, doses himself with 500mg daily, and claims that he has already become more youthful. According to blood tests analysing the state of the 48-year-olds cells, prior to taking the pills Sinclair was in the same physical shape as a 57-year-old, but now hes 31.4.

Meanwhile, Hollywood stars looking for the elixir of youth might want to keep a close eye on developments at Newcastle University where last February Professor Mark Birch-Machin identified, for the first time, the mitochondrial complex which depletes over time, causing skin to age. Mitochondria are the battery packs that power our cells so if we want to slow down ageing we need to keep them topped up; doing so would be transformative for our appearance. In the future, Birch-Machin believes, well not only be taking pills and applying cosmetics, well have implants in our skin. Implants will tell us the state of it how well our batteries are doing, how many free radicals, and will inform us how we are doing with our lifestyle, he says. You can store it, log it, have that linked to your healthcare package.

Such medical discoveries are being translated into treatment at an unprecedented rate. The day after the results of Birch-Machins study were published in The New York Times, his department was contacted by nine companies hoping to turn his research into revolutionary pharmaceuticals. In 2009, Elizabeth Blackburn, a professor of biology and physiology at the University of California, won a Nobel Prize for her work on telomeres, the protective tips on our chromosomes that break down as we get older, leaving us prone to age-related diseases. Blackburn discovered an enzyme called telomerase that can stop the shortening of telomeres by adding DNA like a plastic tip fixing the end of a fraying shoelace. Today, rich Californians now use telomeres therapy to prolong the life of their pets.

Last year, in Monterey, California, the start-up Ambrosia (founded by Dr Jesse Karmazin, a DC-based physician) began trialling the effect of blood transfusions, pumping blood from teenagers into older patients, following studies thatfound that blood plasma from young mice can rejuvenate old mice, improving their memory, cognition and physical activity.

Dr Richard Siow, who heads up the Age Research department at Kings College London, believes we may be soon reach a significant point in anti-ageing research because of the massive amounts of money allocated by governments and charities worldwide in the hope of making a breakthrough. Indeed, according to a survey by Transparency Market Research, by 2019 the anti-ageing market will be worth 151 billion worldwide. Life expectancy in many countries has already increased from 65-68 all the way through to 70, 80, 85 because people are now surviving heart disease, strokes and cancer, points out Siow, who has been studying anti-ageing compounds found in Indian spices and tea. We are now redefining what ageing means. How can we extend that period of health so were not a burden?

It is in Silicon Valley, however, that the really radical advances seem likely to be made. Freshly minted internet tycoons appear willing to pay any price to prolong their lives and a critical mass of geeks is working furiously towards understanding our biology at an unprecedented rate. Take Dmitry Itskov, the Russian billionaire founder of the life-extension non-profit 2045 Initiative, who is paying scientists to map the human brain so our minds can be decanted into a computer and either downloaded to a robot body or synced with a hologram. Or Joon Yun, a physician and hedge fund manager who insisted at an anti-ageing symposium of the California elite in March that ageing is simply a programming error encoded in our DNA. If something is encoded, you can crack the code, he told an audience which, according to The New Yorker, included multi-billionaire Google co-founder Sergey Brin and Goldie Hawn. Thermodynamically, there should be no reason we cant defer entropy indefinitely. We can end ageing forever.

And then theres PayPal founder (and Donald Trump supporter) Peter Thiel, who has a net worth of 2.1 billion and has reportedly invested in start-up Unity Biotechnology which aims to develop drugs that make many debilitating consequences of ageing as uncommon as polio. Thiel has also offered funding to individual researchers, such as Aubrey de Grey, the Chelsea-born, Cambridge and California-based gerontologist who ploughed the 11 million he inherited from his artist mother, Cordelia, into founding the Strategies for Engineered Negligible Senescence Research Foundation in Mountain View, which promotes the use of rejuvenation biotechnology in anti-ageing research.

Of course, the best known element of the immortality industry is cryogenic freezing. Despite its reputation as the last resort of wealthy cranks, it remains in business; at the Alcor cryonics facility in Arizona, 149 corpses have already been preserved in liquid nitrogen at a temperature of minus 196C since it was founded in 1972. Worldwide there are thousands of people signed up for cryogenics services, including Alcors 28 clients in the UK. The service doesnt come cheap (full-body freezing costs 165,000, while having your head cut off and frozen is around 60,000) but it has some impressive-sounding clients, including de Grey and Dr Anders Sandberg, research fellow at Oxford Universitys Future of Humanity Institute.

Its a gamble but its still much better than being dead, says Sandberg. He envisages a world in which the brain is paramount, so when his is revived it could be transformed into a sort of computer programme containing all of his memories of life on earth. If you actually exist as software you have a lot of options. I do enjoy having a physical body but why have just one when you could have lots of different ones?

Of course, if such experiments do come to fruition, they could have far reaching implications for our society. Already, a rapidly ageing population is placing enormous stress on healthcare and pension systems worldwide. De Grey sees the problem of over-population being cured by a dwindling birth-rate. Buthe says little about the impact this would have on the young.

Then theres the question of whether we will one day be living in a world defined by gaping differences in life expectancy where the haves live for 10 times longer than the have nots. Mortality has been the great equaliser from beggars to kings to emperors, says Dr Jack Kreindler, medical director at the Centre for Health & Human Performance in Harley Street. If people embark on really sophisticated, targeted therapies to repair damage to their cells... I think were definitely entering into them and us territory. As projected in Homo Deus, the best-selling book of Israeli academic Yuval Noah Harari, Kreindler adds, we could witness a schism in humanity where we have some people so bioengineered that only the very, very rich can sustain the amount of maintenance required to look after their enhancements, while others simply cant afford to do anything but be natural.

Nevertheless, the quest to overcome mortality continues apace. Last year, at a TEDx symposium Kreindler convened at the Science Museum, Daisy Robinton, a post-doctoral scientist at Harvard University, put forward the theory that ageing should be considered a disease in itself. She described the excitement in the medical community at the discovery of CRISPR/Cas9, a protein that seems to allow us to target and delete genetic mutations in our DNA. Gene editing provides an opportunity to not only cure genetic disease but also to prevent diseases from ever coming into being, Robinton claimed. To treat our susceptibilities before they ever transform into symptoms.

If this theory became fact, dying of old age might one day seem as outmoded as being felled by one of the mass killers of the past for which we get vaccinated. If gene editing on this scale is possible, Kreindler says we have to ask: Can your cells become immortal, can they live forever?

At the Centre for Health & Human Performance, treatments may still be firmly rooted in the 21st century, focused as they are on helping athletes optimise their fitness and celebritiessuch as David Walliams complete gruelling challenges for Sport Relief. But Kreindler is clearlyin awe of what the latestmedical advances might mean for the future of the human race.

I dont believe this should be only for the very rich, he says. If youre going to do things, dont just do it for the billionaires, do it for the billions.

Continued here:
Why the super-rich are ploughing billions into the booming 'immortality industry' - Evening Standard

Worlds Leading Biomarkers Congress | CPD Points …

Conference Series LLC Conferences invites all the participants across the globe to attend 8th International Conference on Biomarkers and Clinical Research during December 05-07, 2016 in Philadelphia, USA which includes prompt Keynote presentations, Oral talks, Poster presentations and Exhibitions.

Biomarkers 2016will mainly focus on the types of biomarkers, Functional genomics and cytogenetic biomarkers and its clinical research and development, omics technologies in discovery and its validation, biomarkers of exposure response and susceptibility, biomarkers disorders, techniques to maximize biomarker identification, biomarkers nano science.

Conference Series LLC, the host of this conference is comprised of 3000+ Global Events with over 600+ Conferences, 1200+ Symposiums and 1200+Workshops on diverse Medical, Pharmaceutical, Clinical, Engineering, Science, Technology, Business and Management field is organizing conferences all over the globe.Biomarkers 2016 is the worlds largest multidisciplinarycancer meeting. Biomarkers and cancer conferencesinclude scientific keynote lectures, symposia, workshops, exhibitions with the support fromOncology SocietyandAmerican Oncology Society. Cancer conferences includeEuropean oncology conferences,surgical oncology global cancer conferenceandcancer conferences.

Track 1:Types of Biomarkers

Biomarkeris a characteristic diagnostic tool that is objectively measured and evaluated as an indicator of normalbiological processes, pathogenic processes or pharmacological responses to a therapeutic intervention. Biomarkers can be molecules, or genes, gene products, enzymes, or hormones referred asprotein biomarkers, analytical biomarkers, blood biomarkers, fluorescent biomarkers, circulating biomarkers and molecular biomarkers to quantify the degree of disease condition. Biomarkers are the measures used to perform a clinical assessment in case ofcancer biomarkers. They predict health states in individuals across populations so that appropriate therapeutic intervention can be planned. In the current scenario more than a thousand organizations and universities have contributed to the field of Biomarkers research especially molecular and cancer biomarkers, with its wings spreading across major organizations in USA, UK, Germany and China. The global biomarkers market is expected to grow from $29.3 billion in 2013 to $53.6 billion in 2018, a compound annual growth rate (CAGR) of 12.8%.Different types of biomarkers includeProtein biomarkers, Fluorescent biomarkers,Blood biomarkers, Cancer biomarkers, Analytical biomarkers andMolecular Biomarkers.

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12th Euro Global Summit onCancer Therapy, September 26-28 2016, London, UK; 13th GlobalOncologistsSummit, October 17-19 2016, Dubai, UAE; Global Summit onMelanoma, September 25-26, 2017 Rome, Italy; Multiple Myeloma Conference, October 15-17, 2017 Milan, Italy; Radiology Conference, October 23-25, 2017 Chicago, USA; 6thAnnual Asia-Pacific Prostate Society Conference, September 9 -10 Seoul, Korea; 68thAnnual German Society of Urology Congress, September 28-October 1, 2016 Leipzig, Germany; 72ndAnnual Canadian Urological Association Meeting, June 25-27, 2017 Toronto, Canada; 4th Annual Immuno-Oncology Summit, August 29-September 2, 2016 Boston, USA; 2nd Biomarkers, Diagnostics & Clinical Research Conference, September 19-20 Boston, USA; Biomarkers and Targeted Therapeutics in Sjgrens (BATTS) Conference, September 19-22, 2016 Oklahoma, USA; NCRI Cancer Conference, November 6-9, 2016 Liverpool, UK; 6th Munich Biomarker Conference, November 29-30, 2016 Munchen, Germany; Annual Meeting of American Association of Genitourinary Surgeons, April 27-30, 2017 Florida, USA.

Track 2: Cancer Biomarkers

Cancer biomarkers are used to detect the natural course of a tumour and are used to assess chances of developing cancer. Biomarkers in cancer screening play an important role in cancer detection and risk assessment to reduce cancer deaths. Tumour biomarkers are used to detect cancer development and progression. Uterine cervical cancer, endometrial cancer, trophoblastic neoplasms and ovarian cancer are gynaecologic malignancies for which tumour markers are in clinical use. Effective cancer biomarkers are used to reduce cancer mortality rates by facilitating diagnosis of cancers at early stages. Cancer biomarkers can also be used in diagnosis, risk assessment and recurrence of cancer.

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Track 3:Functional Genomics and Cytogenetic Biomarkers

The branch ofgenomicsthat determines the biological function and complex association of the genes and their products depicts thefunctional genomics. The measurable degree of these parameters through various processes and equipment inclusive of Next generation sequencing, Personalized genome sequencing and mi-RNA sequencing utilizing cellular entities to predict SNP biomarkers, immuno fluorescent biomarkers,oxidative stress biomarkers, si-RNA and mi-RNA will aid in better understanding of the disease outcome. Thecytogeneticbiomarkers are a feasible diagnostic tool to detect DNA and chromatin damage.

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Track 4: Functional Transcriptomics and Profiling Techniques

The newly emerged discipline in the field of cytogenetic andfunctional genomicsis Molecular imaging biomarkers, aids in better visualization of the cellular function and the follow-up of the molecular process in living organisms without penetrance. Roche Diagnostics, GlaxoSmithKline, Siemens Healthcare, GE Healthcare and Merck & Co are a few of the key players in this market as observed inbiomarkerscongress. The functional genomics and cytogenetic market is estimated to reach 150M$ by 2017.Functional genomicscovers various areas of biomarkers applications like Next gen sequencing, Personalized genome sequencing, Micro RNA sequencing and SNP biomarkers.Cytogenetic biomarkersinclude Immuno flouscent biomarkers, Molecular imaging biomarkers, Oxidative Stress Biomarkers and si-RNA and mi-RNA.

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Track 5:Biomarkers in Clinical Research and Development

TheBiomarkersfinds its valuable application in the field ofClinical researchand development by case study and data management as evident through Biomarker conferences. The Bioethics and intellectual property right establishes the norms and standard of conduct of hypothesis with respect to clinical validation of biomarkers. The incorporation of biomarker inclinical trialsfor various disease conditions will put forth a valid diagnostic and therapeutic approach utilizing even the medical devices to detectclinical biomarkers. Currently this is the booming industry. Most of the reputed organizations like Pfizer, Parexel and Quintiles are into clinical research and development. The companies, hospitals and clinical research organizations are the hot spots for conducting clinical research with its growth rate increasing exponentially by an estimated 75B$ by 2016.In clinical research and development, clinical biomarkers are used in case study anddata management, clinical trials and in medical devices.

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Track 6:Omics Technologies in Biomarkers Discovery and Validation

Biomarkersplay a critical role in disease diagnosis and treatment, especially for the early detection of cancer, to enable screening of asymptomatic populations. Recent omics technologies, such as Transcriptomics,genomicsand proteomics approaches besides Metabolomics are accelerating the rate of biomarker discovery. The incorporation of techniques like microarray data analysis, computational biology, data mining methods, Transcriptomics and profiling techniques are playing a crucial role in the validation of biomarkers. Since theHuman Genome Projectwas completed in April 2003, genome-wide association studies (GWAS) have contributed toward a greater understanding of the genetic basis of complex diseases and advances in high-throughput technologies. This has enabled researchers to rapidly map the genome of vertebrates, invertebrates and pathogens through cost-effective methods. The applications ofBioinformaticstool in biomarker research is the current emerging field promoting better diagnosable parameters. The global omics market was valued at nearly $2.8 billion in 2011, nearly $3.2 billion in 2012, and is forecast to grow to nearly $7.5 billion by 2017 after increasing at a compound annual growth rate (CAGR) of 18.7%. The omics technology segment holds the largest share of ~75% of the biomarker discovery market, primarily due to the increase in adoption ofproteomicsand genomics technologies, globally. There are several approaches in biomarkers discovery and validation likegenomics and proteomicapproaches, Microarray data analysis, Data mining methods and Transcriptomics and profiling techniques by making use of Computational biology and Application of Bioinformatics in biomarker discovery.

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Track 7:Biomarkers of Exposure Response and Susceptibility

Biomarkersof exposure are important in toxicology, because they are an indicator of internal exposure and genetic susceptibility to drug, chemicals or the amount ofchemicalexposure that got accumulated in the body. Significant advances have been made in developing analytical methods that detect and quantify many natural or synthetic toxins or their breakdown products in thebiologicalmatrix. The ability to accurately measure biomarkers of exposure depends upon an adequate understanding of the chemistry and toxicology of the substance under consideration.Epigenetic biomarkersalso quantify the degree of exposure to toxic dynamic and pharmacodynamics parameters inpathologicaland biochemical changes occurring due to exposure to harmful agents, brought to light by toxic dynamics meetings andpharmacodynamicsworkshops. This emerging field of study is gaining importance in industry with an estimate of more than 7,287 personnel conducting study across the globe. While studying the response and susceptibility parameters like toxic dynamic and pharmacodynamic parameters are taken into consideration to measure the internal exposure and genetic susceptibility to drugs and chemicals.

Related Biomarkers Conferences | Cancer Conferences | Biomarkers Meetings

MolecularBiomarkers Conference, September 15-17 2016 Berlin, Germany; Cervical Cancer Conference, September 22-23 2016, Vienna, Austria; Surgical Oncology Conference, October 23-25, 2017 Chicago, USA; 2nd Cervical Cancer Conference, October 29 -31, 2017 Brussels, Belgium; Cancer World Conventaion, November 26-28, 2017 Frankfurt, Germany; 89thAnnual Italian Society of Urology Congress, October 15-18, 2016 Venezia Italy; 62ndAnnual Meeting of Czech Urological Society, October 19-21, 2016 Czech Budejovice, Czech Republic; ESMO 2017 Congress, September 08-12, 2017 Madrid, Spain; International Cancer Education Conference, September 14-16, 2016 Bethesda, USA; 16th Biennial Meeting of the International Gynecologic Cancer Society, October 29-31 Lisbon, Portugal; World Cancer Congress , October 31 - November 3 Paris, France, Malaysia Urology Conference, November 24-28,2016 Kuala Lumpur, Malaysia; Annual AUA Meeting, May 12-16, 2017 Boston, USA.

Track 8:Biomarkers for Disorders

Biomarkers are the characteristicbiological measurableindictors for the various disorders if occurring inabnormal levels. These are used as quantitative entities for neurological disorders, genetic disorders, metabolic disorders, cardiac disorders and inborn errors. The present era is focusing on the cancer research utilizing biomarkers as indictor of disease conditions. The lungcancer biomarkersand biomarkers for breast cancer are inclusive of genes, enzymes, proteins and cell surface entitles. Registering a compound annual growth rate of 14.60% from 2011 to 2018, the market foroncology biomarkerswas valued at $13.16 billion in 2011 and is expected to be worth $29.78 billion in 2018.Biomarkers are also used in diagnosing and treating various diseases and disorders likeNeurological disorders, Genetic disorders,Metabolic disorders, Cardiac disorders, Inborn errors, Lung cancer and Breast cancer.

Related Biomarkers Conferences | Cancer Conferences | Biomarkers Meetings

12th Euro Global Summit onCancer Therapy, September 26-28 2016, London, UK; 13th GlobalOncologistsSummit, October 17-19 2016, Dubai, UAE; Global Summit onMelanoma, September 25-26, 2017 Rome, Italy; Multiple Myeloma Conference, October 15-17, 2017 Milan, Italy; Radiology Conference, October 23-25, 2017 Chicago, USA; 6thAnnual Asia-Pacific Prostate Society Conference, September 9 -10 Seoul, Korea; 68thAnnual German Society of Urology Congress, September 28-October 1, 2016 Leipzig, Germany; 72ndAnnual Canadian Urological Association Meeting, June 25-27, 2017 Toronto, Canada; 4th Annual Immuno-Oncology Summit, August 29-September 2, 2016 Boston, USA; 2nd Biomarkers, Diagnostics & Clinical Research Conference, September 19-20 Boston, USA; Biomarkers and Targeted Therapeutics in Sjgrens (BATTS) Conference, September 19-22, 2016 Oklahoma, USA; NCRI Cancer Conference, November 6-9, 2016 Liverpool, UK; 6th Munich Biomarker Conference, November 29-30, 2016 Munchen, Germany; Annual Meeting of American Association of Genitourinary Surgeons, April 27-30, 2017 Florida, USA.

Track 9:Techniques to Maximize Biomarker Identification

Biomarkersare the existing bimolecular and integral indictors of disease condition of biological systems. The techniques used to identify and maximize the expression of biomarkers include RT-PCR genotyping, molecular imaging and dynamics,biochemicalassay and profiling,immunologicaltechniques and chromatographic techniques. A wider approach towards identification of biomarkers lies in theproteomicapproach besides utilizing biosensors as a compatible tool for evaluation of biomarker levels in the biological systems. Most of the companys focus is on generating cost effective durable profiling techniques and equipment to quantify biomarkers within a short span of time. Johnson & Johnson, GlaxoSmithKline Plc., GEHealthcare, Affymetrix Inc., Bio-Rad Laboratories Inc. are a few of the key players in this market. Partnerships, agreements,collaborations, & mergers and acquisitions are the key business strategies adopted by market participants to ensure their growth in the market.

Related Biomarkers Conferences | Cancer Conferences | Biomarkers Meetings

Oral Cancer Conference, August 18-20 2016, Portland, USA; Surgical Oncology Conference, August 29-31 2016, Sao Paulo, Brazil; Cancer Diagnostics Conference, May 8-10, 2017 Dubai, UAE; 3rd Prostate Cancer Conference, June 26-28, 2017 Baltimore, USA; Lymphoma Conference, July 24-26, 2017 Rome, Italy; 14thUrological Association of Asia Congress, July 20-24, 2016 Suntec, Singapore; 17thAsia-Pacific Prostate Cancer Conference, August 31- September 3, 2016 Melbourne, Australia; ASCO Genitourinary Cancers Symposium, February, 16-18, 2017 Orlando, USA; 2ndInternational Prostate Cancer Symposium, August 6 -7, 2016 Moscow, Russia, 13thMeeting of the EAU Robotic Urology Section, September 14-16, 2016 Milan Italy; 11thAnnual Congress of Russian Association of Oncological Urology, 05-07, 2016 Moscow, Russia; 36thInternational Urology Congress, October 20-23, 2016 Argentina, South America, 27thInternational Prostate Cancer Update, January 24-27, 2017 Colorado, USA.

Track 10:Biomarkers in Nano science

Nano science is the study of structures and materials on the scale of nanometres.Nanotechnologymay be able to create many new materials and devices with a vast range of applications in medicine, electronics, biomaterialsenergy production, and consumer products. Nanotechnology is evolving rapidly with nanoparticles events. An estimated 1 million workers in R&D and production are involved in the field of Nano science and nanomaterial generation. Interaction of biomarkers with nanoparticles aids in identification and validation throughbiologicaland biomedical applications. Current marketholds Nano devices and nanomaterial for identification, quantifying, calibrating and even in surgeries. The US leads the world in investing and in the number ofNanotech Companies. Global consumption ofnanomaterialis expected to grow in unit terms from nearly 225,060 metric tons in 2014 to nearly 584,984 metric tons in 2019, a compound annual growth rate (CAGR) of 21.1% for the period of 2014 to 2019.Nano science is another rapidly growing area where application ofnanotechnologytobiomarkersis used for biological and biomedical applications like Nano devices.

Related Biomarkers Conferences | Cancer Conferences | Biomarkers Meetings

MolecularBiomarkers Conference, September 15-17 2016 Berlin, Germany; Cervical Cancer Conference, September 22-23 2016, Vienna, Austria; Surgical Oncology Conference, October 23-25, 2017 Chicago, USA; 2nd Cervical Cancer Conference, October 29 -31, 2017 Brussels, Belgium; Cancer World Conventaion, November 26-28, 2017 Frankfurt, Germany; 89thAnnual Italian Society of Urology Congress, October 15-18, 2016 Venezia Italy; 62ndAnnual Meeting of Czech Urological Society, October 19-21, 2016 Czech Budejovice, Czech Republic; ESMO 2017 Congress, September 08-12, 2017 Madrid, Spain; International Cancer Education Conference, September 14-16, 2016 Bethesda, USA; 16th Biennial Meeting of the International Gynecologic Cancer Society, October 29-31 Lisbon, Portugal; World Cancer Congress , October 31 - November 3 Paris, France, Malaysia Urology Conference, November 24-28,2016 Kuala Lumpur, Malaysia; Annual AUA Meeting, May 12-16, 2017 Boston, USA.

Track 11: Biomarkers in Toxicology

Biomarkers are used for detecting kidney toxicity. Kidney toxicity is detected using biomarkers serum creatinine and blood urea nitrogen. Many qualified biomarkers are used to develop products to conquer the kidney toxicity problem. Latest research on biomarkers discovered new approaches to predicting and recognising toxic exposures of macromolecular adducts and their potential consequences.

Related Biomarkers Conferences | Cancer Conferences | Biomarkers Meetings

12th Euro Global Summit onCancer Therapy, September 26-28 2016, London, UK; 13th GlobalOncologistsSummit, October 17-19 2016, Dubai, UAE; Global Summit onMelanoma, September 25-26, 2017 Rome, Italy; Multiple Myeloma Conference, October 15-17, 2017 Milan, Italy; Radiology Conference, October 23-25, 2017 Chicago, USA; 6thAnnual Asia-Pacific Prostate Society Conference, September 9 -10 Seoul, Korea; 68thAnnual German Society of Urology Congress, September 28-October 1, 2016 Leipzig, Germany; 72ndAnnual Canadian Urological Association Meeting, June 25-27, 2017 Toronto, Canada; 4th Annual Immuno-Oncology Summit, August 29-September 2, 2016 Boston, USA; 2nd Biomarkers, Diagnostics & Clinical Research Conference, September 19-20 Boston, USA; Biomarkers and Targeted Therapeutics in Sjgrens (BATTS) Conference, September 19-22, 2016 Oklahoma, USA; NCRI Cancer Conference, November 6-9, 2016 Liverpool, UK; 6th Munich Biomarker Conference, November 29-30, 2016 Munchen, Germany; Annual Meeting of American Association of Genitourinary Surgeons, April 27-30, 2017 Florida, USA.

Track 12: Biomarkers in Microbial Infections

Biomarkers can be used for microbial infections and can be used for early diagnosis and prognosis of the disease. The diagnostic performance of biomarkers is usually measured in terms of sensitivity.

Related Biomarkers Conferences | Cancer Conferences | Biomarkers Meetings

Oral Cancer Conference, August 18-20 2016, Portland, USA; Surgical Oncology Conference, August 29-31 2016, Sao Paulo, Brazil; Cancer Diagnostics Conference, May 8-10, 2017 Dubai, UAE; 3rd Prostate Cancer Conference, June 26-28, 2017 Baltimore, USA; Lymphoma Conference, July 24-26, 2017 Rome, Italy; 14thUrological Association of Asia Congress, July 20-24, 2016 Suntec, Singapore; 17thAsia-Pacific Prostate Cancer Conference, August 31- September 3, 2016 Melbourne, Australia; ASCO Genitourinary Cancers Symposium, February, 16-18, 2017 Orlando, USA; 2ndInternational Prostate Cancer Symposium, August 6 -7, 2016 Moscow, Russia, 13thMeeting of the EAU Robotic Urology Section, September 14-16, 2016 Milan Italy; 11thAnnual Congress of Russian Association of Oncological Urology, 05-07, 2016 Moscow, Russia; 36thInternational Urology Congress, October 20-23, 2016 Argentina, South America, 27thInternational Prostate Cancer Update, January 24-27, 2017 Colorado, USA.

Track 13: Biomarkers in Drug Discovery

The role of Biomarkers in drug discovery and development is to understand the pathophysiology of disease. Biomarkers can be a clinical tool for drug discovery and development by confirming the efficacy and safety to the right patient. Biomarkers can be used in understanding the mechanism of drug.

Related Biomarkers Conferences | Cancer Conferences | Biomarkers Meetings

MolecularBiomarkers Conference, September 15-17 2016 Berlin, Germany; Cervical Cancer Conference, September 22-23 2016, Vienna, Austria; Surgical Oncology Conference, October 23-25, 2017 Chicago, USA; 2nd Cervical Cancer Conference, October 29 -31, 2017 Brussels, Belgium; Cancer World Conventaion, November 26-28, 2017 Frankfurt, Germany; 89thAnnual Italian Society of Urology Congress, October 15-18, 2016 Venezia Italy; 62ndAnnual Meeting of Czech Urological Society, October 19-21, 2016 Czech Budejovice, Czech Republic; ESMO 2017 Congress, September 08-12, 2017 Madrid, Spain; International Cancer Education Conference, September 14-16, 2016 Bethesda, USA; 16th Biennial Meeting of the International Gynecologic Cancer Society, October 29-31 Lisbon, Portugal; World Cancer Congress , October 31 - November 3 Paris, France, Malaysia Urology Conference, November 24-28,2016 Kuala Lumpur, Malaysia; Annual AUA Meeting, May 12-16, 2017 Boston, USA.

Track 14: Personalized Medicine and Data Analysis

Recently there has been enhanced and advanced biomedical technology such as high-throughput molecular imaging and microarrays to monitor SNPs, gene and protein expressions, to provide exhaustive situations for individuals. The biological and medical status from such data sets, which are viewed as biomarkers in a wide sense to help to do identification, association, and prediction studies for phenotypes such as cancer subtypes, prognosis, treatment responsiveness, and adverse reactions for personalized medicine.

Related Biomarkers Conferences | Cancer Conferences | Biomarkers Meetings

12th Euro Global Summit onCancer Therapy, September 26-28 2016, London, UK; 13th GlobalOncologistsSummit, October 17-19 2016, Dubai, UAE; Global Summit onMelanoma, September 25-26, 2017 Rome, Italy; Multiple Myeloma Conference, October 15-17, 2017 Milan, Italy; Radiology Conference, October 23-25, 2017 Chicago, USA; 6thAnnual Asia-Pacific Prostate Society Conference, September 9 -10 Seoul, Korea; 68thAnnual German Society of Urology Congress, September 28-October 1, 2016 Leipzig, Germany; 72ndAnnual Canadian Urological Association Meeting, June 25-27, 2017 Toronto, Canada; 4th Annual Immuno-Oncology Summit, August 29-September 2, 2016 Boston, USA; 2nd Biomarkers, Diagnostics & Clinical Research Conference, September 19-20 Boston, USA; Biomarkers and Targeted Therapeutics in Sjgrens (BATTS) Conference, September 19-22, 2016 Oklahoma, USA; NCRI Cancer Conference, November 6-9, 2016 Liverpool, UK; 6th Munich Biomarker Conference, November 29-30, 2016 Munchen, Germany; Annual Meeting of American Association of Genitourinary Surgeons, April 27-30, 2017 Florida, USA.

Track 15: Nutritional Biomarkers

A nutritional biomarker can be any biological specimen that is an indicator of nutritional status with respect to intake or metabolism of dietary constituents. It can be a biochemical, functional or clinical index of status of an essential nutrient or other dietary constituent. Nutritional biomarkers may be interpreted more broadly as a biologic consequence of dietary intake or dietary patterns.

Related Biomarkers Conferences | Cancer Conferences | Biomarkers Meetings

Oral Cancer Conference, August 18-20 2016, Portland, USA; Surgical Oncology Conference, August 29-31 2016, Sao Paulo, Brazil; Cancer Diagnostics Conference, May 8-10, 2017 Dubai, UAE; 3rd Prostate Cancer Conference, June 26-28, 2017 Baltimore, USA; Lymphoma Conference, July 24-26, 2017 Rome, Italy; 14thUrological Association of Asia Congress, July 20-24, 2016 Suntec, Singapore; 17thAsia-Pacific Prostate Cancer Conference, August 31- September 3, 2016 Melbourne, Australia; ASCO Genitourinary Cancers Symposium, February, 16-18, 2017 Orlando, USA; 2ndInternational Prostate Cancer Symposium, August 6 -7, 2016 Moscow, Russia, 13thMeeting of the EAU Robotic Urology Section, September 14-16, 2016 Milan Italy; 11thAnnual Congress of Russian Association of Oncological Urology, 05-07, 2016 Moscow, Russia; 36thInternational Urology Congress, October 20-23, 2016 Argentina, South America, 27thInternational Prostate Cancer Update, January 24-27, 2017 Colorado, USA.

Track 16: Current Research Concepts in Biomarkers

Current Research Concepts in Biomarkers include research in glucose disorders, Biomarkers in disease and health, technologies in biomarker discovery, translational biomarker research and the use of biomarkers in pre-clinical and clinical studies.

Related Biomarkers Conferences | Cancer Conferences | Biomarkers Meetings

MolecularBiomarkers Conference, September 15-17 2016 Berlin, Germany; Cervical Cancer Conference, September 22-23 2016, Vienna, Austria; Surgical Oncology Conference, October 23-25, 2017 Chicago, USA; 2nd Cervical Cancer Conference, October 29 -31, 2017 Brussels, Belgium; Cancer World Conventaion, November 26-28, 2017 Frankfurt, Germany; 89thAnnual Italian Society of Urology Congress, October 15-18, 2016 Venezia Italy; 62ndAnnual Meeting of Czech Urological Society, October 19-21, 2016 Czech Budejovice, Czech Republic; ESMO 2017 Congress, September 08-12, 2017 Madrid, Spain; International Cancer Education Conference, September 14-16, 2016 Bethesda, USA; 16th Biennial Meeting of the International Gynecologic Cancer Society, October 29-31 Lisbon, Portugal; World Cancer Congress , October 31 - November 3 Paris, France, Malaysia Urology Conference, November 24-28,2016 Kuala Lumpur, Malaysia; Annual AUA Meeting, May 12-16, 2017 Boston, USA

Track 17: Oncologists: Biomarkers

An oncologist is a doctor who specializes in treating people with cancer. The oncologists research into the causes, prevention, detection, and treatment of cancer is going on in many medical centres throughout the world.

Related Biomarkers Conferences | Cancer Conferences | Biomarkers Meetings

12th Euro Global Summit onCancer Therapy, September 26-28 2016, London, UK; 13th GlobalOncologistsSummit, October 17-19 2016, Dubai, UAE; Global Summit onMelanoma, September 25-26, 2017 Rome, Italy; Multiple Myeloma Conference, October 15-17, 2017 Milan, Italy; Radiology Conference, October 23-25, 2017 Chicago, USA; 6thAnnual Asia-Pacific Prostate Society Conference, September 9 -10 Seoul, Korea; 68thAnnual German Society of Urology Congress, September 28-October 1, 2016 Leipzig, Germany; 72ndAnnual Canadian Urological Association Meeting, June 25-27, 2017 Toronto, Canada; 4th Annual Immuno-Oncology Summit, August 29-September 2, 2016 Boston, USA; 2nd Biomarkers, Diagnostics & Clinical Research Conference, September 19-20 Boston, USA; Biomarkers and Targeted Therapeutics in Sjgrens (BATTS) Conference, September 19-22, 2016 Oklahoma, USA; NCRI Cancer Conference, November 6-9, 2016 Liverpool, UK; 6th Munich Biomarker Conference, November 29-30, 2016 Munchen, Germany; Annual Meeting of American Association of Genitourinary Surgeons, April 27-30, 2017 Florida, USA.

Track 18: Biomarkers in Market

With the emerging importance to quantify and validate various disease conditions, many organizations, companies, and universities have stepped forward to contribute to the field of biomarkers discovery and quantification for better prognosis of disease conditions. The Biomarkers is the second leading industry after clinical research and development. The Biomarkers in pharmaceutical industry, biomarkers in oncology & other diseases has attained utmost recognition due to global spread of cancer and other diseases. The Biomarkers validation and regulatory affairs and diagnostic biomarker are booming industry with an estimate of more than 270 companies involved across the globe in 2016.

Related Biomarkers Conferences | Cancer Conferences | Biomarkers Meetings

MolecularBiomarkers Conference, September 15-17 2016 Berlin, Germany; Cervical Cancer Conference, September 22-23 2016, Vienna, Austria; Surgical Oncology Conference, October 23-25, 2017 Chicago, USA; 2nd Cervical Cancer Conference, October 29 -31, 2017 Brussels, Belgium; Cancer World Conventaion, November 26-28, 2017 Frankfurt, Germany; 89thAnnual Italian Society of Urology Congress, October 15-18, 2016 Venezia Italy; 62ndAnnual Meeting of Czech Urological Society, October 19-21, 2016 Czech Budejovice, Czech Republic; ESMO 2017 Congress, September 08-12, 2017 Madrid, Spain; International Cancer Education Conference, September 14-16, 2016 Bethesda, USA; 16th Biennial Meeting of the International Gynecologic Cancer Society, October 29-31 Lisbon, Portugal; World Cancer Congress , October 31 - November 3 Paris, France, Malaysia Urology Conference, November 24-28,2016 Kuala Lumpur, Malaysia; Annual AUA Meeting, May 12-16, 2017 Boston, USA.

Track 19: Biomarkers Case Reports

Biomarkers case reports play a crucial role in moving new treatments to patients who need those most, securing data so regulatory approvals can be obtained and new drugs can move into widespread clinical practice.

Related Biomarkers Conferences | Cancer Conferences | Biomarkers Meetings

12th Euro Global Summit onCancer Therapy, September 26-28 2016, London, UK; 13th GlobalOncologistsSummit, October 17-19 2016, Dubai, UAE; Global Summit onMelanoma, September 25-26, 2017 Rome, Italy; Multiple Myeloma Conference, October 15-17, 2017 Milan, Italy; Radiology Conference, October 23-25, 2017 Chicago, USA; 6thAnnual Asia-Pacific Prostate Society Conference, September 9 -10 Seoul, Korea; 68thAnnual German Society of Urology Congress, September 28-October 1, 2016 Leipzig, Germany; 72ndAnnual Canadian Urological Association Meeting, June 25-27, 2017 Toronto, Canada; 4th Annual Immuno-Oncology Summit, August 29-September 2, 2016 Boston, USA; 2nd Biomarkers, Diagnostics & Clinical Research Conference, September 19-20 Boston, USA; Biomarkers and Targeted Therapeutics in Sjgrens (BATTS) Conference, September 19-22, 2016 Oklahoma, USA; NCRI Cancer Conference, November 6-9, 2016 Liverpool, UK; 6th Munich Biomarker Conference, November 29-30, 2016 Munchen, Germany; Annual Meeting of American Association of Genitourinary Surgeons, April 27-30, 2017 Florida, USA.

Track 20: Biomarkers: Entrepreneur Investments Meet

A key ingredient in successful entrepreneurship is self-knowledge. Biomarkers-2016 aims to bring together all existing and budding bio entrepreneurs to share experiences and present new innovations and challenges in cancer community. Each year, over a million companies are started in the world with about 510 of them classified as high technology companies. Turning ideas into business ventures is tricky and the opportunity-recognition step is critical in new venture creation. This gestalt in the entrepreneur's perception of the relationship between the invention and final product is refined into a business model that describes how the venture will make money or provide an appropriate return to the potential investors. Cancer science is complex and rapidly changing and requires a specialized knowledge to understand the value of the innovation and its competitive position in the industry. This three day community-wide conference will be a highly interactive forum that will bring experts in areas ranging from Biomarkers to signalling pathways to novel therapeutic approaches to the scientific hub. In addition to our outstanding speakers, we will also showcase short talks and poster presentations from submitted abstracts .The speakers will discuss state-of-the-art treatments, current guidelines, clinical challenges, and review recent trial data and emerging therapeutic approaches with the potential to impact clinical practice. This session will include combined efforts of World-renowned speakers, the most recent techniques, developments, and the newest updates in Biomarkers.

Related Biomarkers Conferences | Cancer Conferences | Biomarkers Meetings

Oral Cancer Conference, August 18-20 2016, Portland, USA; Surgical Oncology Conference, August 29-31 2016, Sao Paulo, Brazil; Cancer Diagnostics Conference, May 8-10, 2017 Dubai, UAE; 3rd Prostate Cancer Conference, June 26-28, 2017 Baltimore, USA; Lymphoma Conference, July 24-26, 2017 Rome, Italy; 14thUrological Association of Asia Congress, July 20-24, 2016 Suntec, Singapore; 17thAsia-Pacific Prostate Cancer Conference, August 31- September 3, 2016 Melbourne, Australia; ASCO Genitourinary Cancers Symposium, February, 16-18, 2017 Orlando, USA; 2ndInternational Prostate Cancer Symposium, August 6 -7, 2016 Moscow, Russia, 13thMeeting of the EAU Robotic Urology Section, September 14-16, 2016 Milan Italy; 11thAnnual Congress of Russian Association of Oncological Urology, 05-07, 2016 Moscow, Russia; 36thInternational Urology Congress, October 20-23, 2016 Argentina, South America, 27thInternational Prostate Cancer Update, January 24-27, 2017 Colorado, USA.

OMICS International hosted the 6thInternational Conference on Biomarkers & Clinical Research (Biomarkers 2015) during August 31September 02 at Toronto Airport Marriott Hotel, Toronto, Canada. The scientific meeting has laid path for the designing and development of research methodologies with the theme impact of Lab to industry as bio-signatures to therapeutic discovery.

Biomarkers 2015 was fortunate to acquire support from association and societies - Clinical Research Association of Canada (CRAC), Hypertension Canada, International Society for Cellular Therapy (ISCT), The Egyptian Biophysical Society and media partners -Biomarkers Profile Corporation, Gate2Biotech, The Technology Networks, Council of European Bio-Region, Oncology Education and Edinburgh Science Triangle.

The highlights of the meeting were the eponymous lectures, delivered byDr. Claude Prigent, University of Rennes, France, Dr. Trevor G Marshall, Autoimmunity Research Foundation, USA, Dr. Alain Moreau, Sainte-Justine University Hospital, Canada, Dr. Sergey Suchkov, I. M. Sechenov First Moscow State Medical University, Russia, Dr. Alexander M Buko, Human Metabolome Technologies, USA, Dr. Chee Gee See, Proteome Sciences, UK, Dr. Biswendu B Goswami, FDA Center for Food Safety and Applied Nutrition, USA.

Biomarkers 2015 held pre-conference workshop on August 1, 2015 in Mumbai University, India under the supervision of Prof. K. P. Mishra, Founder President of Society of Radiation Research, India. The workshop gathered 650+ participants inclusive of students, faculty, societies and industrial personnel.

The conference held 2 workshops under the supervision of Prof. Sergey Suchkov, I. M. Sechenov First Moscow State Medical University, Russia; Dr. Trevor G Marshall, Autoimmunity Research Foundation, USA and their team from Czech Republic and Prof. Youhe Gao, Beijing Normal University, China.

Biomarkers-2014

The5thInternational Conference on Biomarkers & Clinical Research, the Biomarker-2014, was held during April 15-17, 2014 at Oxford, UK.

Biomarkers-2014 has taken up the scientific thoughts towards proving the importance of accurate diagnostics to be prevital towards the curing efficacy. The scientific meeting has laid path for the designing and development of research methodologies with the theme impact of Diagnostic significance of the therapeutic bio-clinical molecule.

The conference was greeted by the welcome message from Presidents desk at the European Association for Predictive, Preventive and Personalised Medicine (EPMA), Brussels, EU. The support was extended through the PPPM workshop being conducted with the PPPM representatives from Russia, USA, Czech Republic and Saudi Arabia. The conference has gathered support from Everest Biotech, EuroScienceCon, Biomarkers Profile Corporation, ArrayMold, BioNews, Edinburgh Science Triangle, Biowebspin, The Technology Networks, European Biotechnology Thematic Network Association, Visiongain and Current Partnering as the media partners. In addition SCIENION has participated at the conference as Exhibitor at this conference.

The program highlights of the meeting were the eponymous lectures, delivered byDr. Sergey Suchkovfrom I.M.Sechenov First Moscow State Medical University, Russia;Dr.Pavel Vodickafrom Institute of Experimental Medicine, Czech Republic;Dr.Ondrej Topolcan from Charles University in Prague, Czech Republic;Dr. Claudio Nicolinifrom University of Genova, Italy andDr. Claude Prigentfrom University of Rennes, France.

Biomarkers-2013

OMICS Grouporganized 4thInternational Conference on Biomarkers & Clinical Research, during July 15-17, 2013 at Philadelphia, USA under the theme of Impact of Biomarkers Development in Health Diagnostics and Clinical Research.

The conference was initiated with a series of invited lectures delivered by Dr. Jizu Yi from BD Diagnostics, USA; Dr. Yaping Tian from PLA General Hospital, China; Dr. Leticia Cano from Biomarker Profile Corporation, USA and Dr. Lawrence Greenfield from Affymetrix, USA.

Biomarkers-2012

The3rd International Conference on Biomarkers & Clinical Research, organized by theOMICS Groupwas held onJuly 2-4, 2012 at Embassy Suites Las Vegas, USA under the theme of "Commercialization of Biomarkers". There were about 200 delegates representing 25 countries from different corners of the world who made this conference a big success in the field ofBiomarkers and Clinical Research.

The conference was initiated with a series of invited lectures delivered by both Honorable Guests and members of the Keynote forum. The list includesDr. Josip Blonder, Frederick National Laboratory for Cancer Research (NIH), USA;Dr. Marcel M. Daadi, Stanford University, USA;Dr. Ting-Chao Chou, Memorial Sloan-Kettering Cancer Center, USA;Dr. Jacob Kagan, National Cancer Institute, NIH, USA;Dr. Michael Sullivan, Worldwide Clinical Trials-Drug Development Solutions, USA;Dr. Hitoshi Sohma, Sapporo Medical University Center for Medical Education, Japan andDr. Da Zhi Liu, University of California at Devis, USA.All the above mentioned Honourable Guests and Keynote speakers gave their energetic and fruitful contributions atBiomarkers-2012. All accepted abstracts have been indexed in OMICS Group Journal of Molecular Biomarkers & Diagnosisas a special issue.

Biomarkers-2011

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Worlds Leading Biomarkers Congress | CPD Points ...

Breast Cancer Risk Factors: Genetics

About 5% to 10% of breast cancers are thought to be hereditary, caused by abnormal genes passed from parent to child.

Genes are particles in cells, contained in chromosomes, and made of DNA (deoxyribonucleic acid). DNA contains the instructions for building proteins. And proteins control the structure and function of all the cells that make up your body.

Think of your genes as an instruction manual for cell growth and function. Abnormalities in the DNA are like typographical errors. They may provide the wrong set of instructions, leading to faulty cell growth or function. In any one person, if there is an error in a gene, that same mistake will appear in all the cells that contain the same gene. This is like having an instruction manual in which all the copies have the same typographical error.

Most inherited cases of breast cancer are associated with two abnormal genes: BRCA1 (BReast CAncer gene one) and BRCA2 (BReast CAncer gene two).

Everyone has BRCA1 and BRCA2 genes. The function of the BRCA genes is to repair cell damage and keep breast, ovarian, and other cells growing normally. But when these genes contain abnormalities or mutations that are passed from generation to generation, the genes don't function normally and breast, ovarian, and other cancer risk increases. Abnormal BRCA1 and BRCA2 genes may account for up to 10% of all breast cancers, or 1 out of every 10 cases.

Having an abnormal BRCA1 or BRCA2 gene doesn't mean you will be diagnosed with breast cancer. Researchers are learning that other mutations in pieces of chromosomes -- called SNPs (single nucleotide polymorphisms) -- may be linked to higher breast cancer risk in women with an abnormal BRCA1 gene as well as women who didn't inherit an abnormal breast cancer gene.

Women who are diagnosed with breast cancer and have an abnormal BRCA1 or BRCA2 gene often have a family history of breast cancer, ovarian cancer, and other cancers. Still, most people who develop breast cancer did not inherit an abnormal breast cancer gene and have no family history of the disease.

You are substantially more likely to have an abnormal breast cancer gene if:

If one family member has an abnormal breast cancer gene, it does not mean that all family members will have it.

The average woman in the United States has about a 1 in 8, or about 12%, risk of developing breast cancer in her lifetime. Women who have an abnormal BRCA1 or BRCA2 gene (or both) can have up to an 80% risk of being diagnosed with breast cancer during their lifetimes. Breast cancers associated with an abnormal BRCA1 or BRCA2 gene tend to develop in younger women and occur more often in both breasts than cancers in women without these abnormal genes.

Women with an abnormal BRCA1 or BRCA2 gene also have an increased risk of developing ovarian, colon, and pancreatic cancers, as well as melanoma.

Men who have an abnormal BRCA2 gene have a higher risk of breast cancer than men who don't -- about 8% by the time they're 80 years old. This is about 80 times greater than average.

Men with an abnormal BRCA1 gene have a slightly higher risk of prostate cancer. Men with an abnormal BRCA2 gene are 7 times more likely than men without the abnormal gene to develop prostate cancer. Other cancer risks, such as cancer of the skin or digestive tract, also may be slightly higher in men with abnormal BRCA1 or BRCA2 genes.

Changes in other genes are also associated with breast cancer. These abnormal genes are much less common and don't seem to increase risk as much as abnormal BRCA1 and BRCA2 genes, which are considered rare. Still, because these genetic mutations are rarer, they haven't been studied as much as the BRCA genes.

In 2015, an abnormal version of the SEC23B gene also was linked to Cowden syndrome. The SEC23B gene also helps regulate cell growth. Because this discovery is so new, there is not a clinical test available for an abnormal SEC23B gene.

Inheriting two abnormal copies of the BRCA2, BRIP1, MRE11A, NBN, PALB2, RAD50, or RAD51C genes causes the disease Fanconi anema, which suppresses bone marrow function and leads to extremely low levels of red blood cells, white blood cells, and platelets. People with Fanconi anemia also have a higher risk of several other types of cancer, including kidney cancer and brain cancer.

There are genetic tests available to determine if someone has an abnormal BRCA1 or BRCA2 gene. A genetic counselor also may order testing for an abnormal ATM, CDH1, CHEK2, MRE11A, NBN, PALB2, PTEN, RAD50, RAD51C, or TP53 gene, individually or as part of a larger gene panel that includes BRCA1 and BRCA2 if it's determined from your personal or family history that these tests are an option. Right now, there is not a clinical test for an abnormal SEC23B gene.

For more information, visit the Breastcancer.org Genetic Testing pages.

If you know you have an abnormal gene linked to breast cancer, there are lifestyle choices you can make to keep your risk as low it can be:

These are just a few steps you can take. Review the links on the left side of this page for more options.

Along with these lifestyle choices, there are other risk-reduction options for women at high risk because of abnormal genetics.

Hormonal therapy medicines: Two SERMs (selective estrogen receptor modulators) and two aromatase inhibitors have been shown to reduce the risk of developing hormone-receptor-positive breast cancer in women at high risk.

Hormonal therapy medicines do not reduce the risk of hormone-receptor-negative breast cancer.

More frequent screening: If you're at high risk because of an abnormal breast cancer gene, you and your doctor will develop a screening plan tailored to your unique situation. You may start being screened when you're younger than 40. In addition to the recommended screening guidelines for women at average risk, a screening plan for a woman at high risk may include:

Women with an abnormal breast cancer gene need to be screened twice a year because they have a much higher risk of cancer developing in the time between yearly screenings. For example, the Memorial Sloan-Kettering Cancer Center in New York, NY recommends that women with an abnormal BRCA1 or BRCA2 gene have both a digital mammogram and an MRI scan each year, about 6 months apart (for example, a mammogram in December and an MRI in June).

A breast ultrasound is another powerful tool that can help detect breast cancer in women with an abnormal breast cancer gene. This test does not take the place of digital mammography and MRI scanning.

Talk to your doctor, radiologist, and genetic counselor about developing a specialized program for early detection that addresses your breast cancer risk, meets your individual needs, and gives you peace of mind.

Protective surgery: Removing the healthy breasts and ovaries -- called prophylactic surgery ("prophylactic" means "protective") -- are very aggressive, irreversible risk-reduction options that some women with an abnormal BRCA1 or BRCA2 gene choose.

Prophylactic breast surgery may be able to reduce a woman's risk of developing breast cancer by as much as 97%. The surgery removes nearly all of the breast tissue, so there are very few breast cells left behind that could develop into a cancer.

Women with an abnormal BRCA1 or BRCA2 gene may reduce their risk of breast cancer by about 50% by having prophylactic ovary and fallopian tube removal (salpingo-oophorectomy) before menopause. Removing the ovaries lowers the risk of breast cancer because the ovaries are the main source of estrogen in a premenopausal womans body. Removing the ovaries doesnt reduce the risk of breast cancer in postmenopausal women because fat and muscle tissue are the main producers of estrogen in these women. Prophylactic removal of both ovaries and fallopian tubes reduces the risk of ovarian cancer in women at any age, before or after menopause.

Research also has shown that women with an abnormal BRCA1 or BRCA2 gene who have prophylactic ovary removal have better survival if they eventually are diagnosed with breast or ovarian cancer.

The benefit of prophylactic surgeries is usually counted one year at a time. Thats why the younger you are at the time of surgery, the larger the potential benefit, and the older you are, the lower the benefit. Also, as you get older youre more likely to develop other medical conditions that affect how long you live, such as diabetes and heart disease.

Of course, each woman's situation is unique. Talk to your doctor about your personal level of risk and how best to manage it.

It's important to remember that no procedure -- not even removing both healthy breasts and ovaries at a young age -- totally eliminates the risk of cancer. There is still a small risk that cancer can develop in the areas where the breasts used to be. Close follow-up is necessary, even after prophylactic surgery.

Prophylactic surgery decisions require a great deal of thought, patience, and discussion with your doctors, genetic counselor, and family over time -- together with a tremendous amount of courage. Take the time you need to consider these options and make decisions that feel comfortable to you.

For more information, visit the Breastcancer.org Prophylactic Mastectomy and Prophylactic Ovary Removal pages.

Think Pink, Live Green: A Step-by-Step Guide to Reducing Your Risk of Breast Cancer teaches you the biology of breast development and how modern life affects breast cancer risk. Order a free booklet by mail or download the PDF of the booklet to learn 31 risk-reducing steps you can take today.

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Breast Cancer Risk Factors: Genetics

Local Doctor Leads Study Of Gene Therapy Treatment For …

February 18, 2016 5:55 PM By Dr. Maria Simbra

PITTSBURGH (KDKA) When part of the brain is no longer working properly, would it be possible to put something in to boost function?

Neurosurgeon Dr. Mark Richardson is trying to find out.

What were trying to do with this study is to replace an enzyme thats lost as cells degenerate in Parkinsons disease, Dr. Richardson said. The enzyme helps the brain make dopamine.

The brain chemical dopamine is important to keeping movements smooth. The problem in Parkinsons disease is the lack of dopamine because of worn out brain cells, and you end up with shaking, stiffness, and slowness of movement.

People can take medicine for Parkinsons disease, but there can be symptom fluctuations and at higher doses, side effects.

Typically in Parkinsons disease, these symptoms kind of go up and down like this, and they can be masked very well by medication, but unfortunately what tends to happen for all of these patients is progression to more of a roller coaster ride of ups and downs during the day, Dr. Richardson said.

Dr. Richardson is leading part of a study, first funded by the Michael J. Fox Foundation and now by a biotherapy company, to see whether inserting a gene into a specific part of the brain will be the on switch for more dopamine production.

The idea of brain surgery for a chronic disease is very different than continuing to take medication, Dr. Richardson said.

The gene is delivered into the brain through the skull by a thin tube and carried by a virus

The idea of a virus probably sounds very scary to some people. But, this virus cannot reproduce, Dr. Richardson said. It can insert itself into a cell, and it can only do one thing there. It can release the gene to allow this enzyme to be made.

Dr. Richardson and the lead investigator in San Francisco are looking for 20 patients to participate. They will be followed for three years, and their need for medication will be evaluated and compared before and after.

To qualify you have to be between 40 and 70 and on certain medicines for Parkinsons disease for at least three years with increasing fluctuations in movement.

Dr. Richardson hopes gene therapy leads to smoother days and fewer symptoms.

If we can show this is a small group of patients, the trial will be expanded, Dr. Richardson said. With a little bit of luck, within the next decade, we will see a gene therapy accepted as a proven and viable treatment option.

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Dr. Maria Simbra is a multi award-winning medical journalist, who brings a unique set of skills to her position as medical reporter on KDKA-TV. A member of the KDKA news team since May 2002, this physician and formally trained journalism professi...

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Local Doctor Leads Study Of Gene Therapy Treatment For ...

Dr Rajiv Desai Blog Archive GENE THERAPY

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GENE THERAPY:

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Caveat:

Medicine is an ever-changing science. As new research and clinical experience broaden our knowledge, changes in treatment and drug therapy are required. I have checked with sources believed to be reliable in their efforts to provide information that is complete and generally in accord with the standards accepted at the time of publishing this article. However, in view of the possibility of human error or changes in medical sciences, I do not assure that the information contained herein is in every respect accurate or complete, and I disclaim all responsibility for any errors or omissions or for the results obtained from use of the information contained in this work. Readers are encouraged to confirm the information contained herein with other sources. I have taken some information from articles that were published few years ago. The facts and conclusions presented may have since changed and may no longer be accurate. Questions about personal health should always be referred to a physician or other health care professional.

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Prologue:

BLASPHEMY! some cried when the concept of gene therapy first surfaced. For them tinkering with the genetic constitution of human beings was equivalent to playing God, and this they perceived as being sacrilegious! On the other side was the scientific community, abuzz with excitement at the prospect of being able to wipe certain genetic disorders in humans entirely from the human gene pool. Although the term gene therapy was first introduced during the 1980s, the controversy about the rationality of this line of treatment still rages on. In the center of the debate lie the gene therapy pros and cons that derive opinions from religious, ethical and undoubtedly, political domains. The concept of genes as carriers of phenotypic information was introduced in the early 19th century by Gregor Mendel, who later demonstrated the properties of genetic inheritance in peas. Over the next 100 years, many significant discoveries lead to the conclusions that genes encode proteins and reside on chromosomes, which are composed of DNA. These findings culminated in the central dogma of molecular biology, that proteins are translated from RNA, which is transcribed from DNA. James Watson was quoted as saying we used to think that our fate was in our stars, but now we know, in large measures, our fate is in our genes. Genes, the functional unit of heredity, are specific sequences bases that encode instructions to make proteins. Although genes get a lot of attentions, it is the proteins that perform most life functions. When genes are altered, encoded proteins are unable to carry out their normal functions, resulting in genetic disorders. Gene therapy is a novel therapeutic branch of modern medicine. Its emergence is a direct consequence of the revolution heralded by the introduction of recombinant DNA methodology in the 1970s. Gene therapy is still highly experimental, but has the potential to become an important treatment regimen. In principle, it allows the transfer of genetic information into patient tissues and organs. Consequently, diseased genes can be eliminated or their normal functions rescued. Furthermore, the procedure allows the addition of new functions to cells, such as the production of immune system mediator proteins that help to combat cancer and other diseases. Most scientists believe the potential for gene therapy is the most exciting application of DNA science, yet undertaken.

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Note:

Please read my other articles Stem cell therapy and human cloning, Cell death and Genetically modified before reading this article.

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The rapid pace of technological advances has profound implications for medical applications far beyond their traditional roles to prevent, treat, and cure disease. Cloning, genetic engineering, gene therapy, human-computer interfaces, nanotechnology, and designer drugs have the potential to modify inherited predispositions to disease, select desired characteristics in embryos, augment normal human performance, replace failing tissues, and substantially prolong life span. As gene therapy is uprising in the field of medicine, scientists believe that after 20 years, this will be the last cure of every genetic disease. Genes may ultimately be used as medicine and given as simple intravenous injection of gene transfer vehicle that will seek our target cells for stable, site-specific chromosomal integration and subsequent gene expression. And now that a draft of the human genome map is complete, research is focusing on the function of each gene and the role of the faulty gene play in disease. Gene therapy will ultimately play Copernican part and will change our lives forever.

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Gene therapy, the experimental therapy as on today:

Gene therapy is an experimental technique that uses genes to treat or prevent diseases. Genes are specific sequences of bases that encode instructions on how to make proteins. When genes are altered so that the encoded proteins are unable to carry out their normal functions, genetic disorders can result. Gene therapy is used for correcting defective genes responsible for disease development. Researchers may use one of several approaches for correcting faulty genes. Although gene therapy is a promising treatment which helps successfully treat and prevent various diseases including inherited disorders, some types of cancer, and certain viral infections, it is still at experimental stage. Gene therapy is presently only being tested for the treatment of diseases that have no other cures. Currently, the only way for you to receive gene therapy is to participate in a clinical trial. Clinical trials are research studies that help doctors determine whether a gene therapy approach is safe for people. They also help doctors understand the effects of gene therapy on the body. Your specific procedure will depend on the disease you have and the type of gene therapy being used.

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Introduction to gene therapy:

Gene therapy is a clinical strategy involving gene transfer with therapeutic purposes. It is based on the concept that an exogenous gene (transgene) is able to modify the biology and phenotype of target cells, tissues and organs. Initially designed to definitely correct monogenic disorders, such as cystic fibrosis, severe combined immunodeficiency or muscular dystrophy, gene therapy has evolved into a promising therapeutic modality for a diverse array of diseases. Targets are expanding and currently include not only genetic, but also many acquired diseases, such as cancer, tissue degeneration or infectious diseases. Depending on the duration planned for the treatment, type and location of target cells, and whether they undergo division or are quiescent, different vectors may be used, involving nonviral methods, non-integrating viral vectors or integrating viral vectors. The first gene therapy clinical trial was carried out in 1989, in patients with advanced melanoma, using tumor-infiltrating lymphocytes modified by retroviral transduction. In the early nineties, a clinical trial with children with severe combined immunodeficiency (SCID) was also performed, by retrovirus transfer of adenosine deaminase gene to lymphocytes isolated from these patients. Since then, more than 5,000 patients have been treated in more than 1,000 clinical protocols all over the world. Despite the initial enthusiasm, however, the efficacy of gene therapy in clinical trials has not been as high as expected; a situation further complicated by ethical and safety concerns. Further studies are being developed to solve these limitations.

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Historical development of gene therapy:

Chronology of development of gene therapy technology:

1970s, 1980s and earlier:

In 1972 Friedmann and Roblin authored a paper in Science titled Gene therapy for human genetic disease? Rogers (1970) was cited for proposing that exogenous good DNA be used to replace the defective DNA in those who suffer from genetic defects. However, these authors concluded that it was premature to begin gene therapy studies in humans because of lack of basic knowledge of genetic regulation and of genetic diseases, and for ethical reasons. They did, however, propose that studies in cell cultures and in animal models aimed at development of gene therapies be undertaken. Such studiesas well as abortive gene therapy studies in humanshad already begun as of 1972. In the 1970s and 1980s, researchers applied such technologies as recombinant DNA and development of viral vectors for transfer of genes to cells and animals to the study and development of gene therapies.

1990s:

The first approved gene therapy case in the United States took place on 14 September 1990, at the National Institute of Health, under the direction of Professor William French Anderson. It was performed on a four year old girl named Ashanti DeSilva. It was a treatment for a genetic defect that left her with ADA-SCID, a severe immune system deficiency. The effects were only temporary, but successful. New gene therapy approach repairs errors in messenger RNA derived from defective genes. This technique has the potential to treat the blood disorder thalassaemia, cystic fibrosis, and some cancers. Researchers at Case Western Reserve University and Copernicus Therapeutics are able to create tiny liposomes 25 nanometers across that can carry therapeutic DNA through pores in the nuclear membrane. Sickle-cell disease is successfully treated in mice. The mice which have essentially the same defect that causes sickle cell disease in humans through the use a viral vector, were made to express the production of fetal hemoglobin (HbF), which normally ceases to be produced by an individual shortly after birth. In humans, the use of hydroxyurea to stimulate the production of HbF has long been shown to temporarily alleviate the symptoms of sickle cell disease. The researchers demonstrated this method of gene therapy to be a more permanent means to increase the production of the therapeutic HbF. In 1992 Doctor Claudio Bordignon working at the Vita-Salute San Raffaele University, Milan, Italy performed the first procedure of gene therapy using hematopoietic stem cells as vectors to deliver genes intended to correct hereditary diseases. In 2002 this work led to the publication of the first successful gene therapy treatment for adenosine deaminase-deficiency (SCID). The success of a multi-center trial for treating children with SCID (severe combined immune deficiency or bubble boy disease) held from 2000 and 2002 was questioned when two of the ten children treated at the trials Paris center developed a leukemia-like condition. Clinical trials were halted temporarily in 2002, but resumed after regulatory review of the protocol in the United States, the United Kingdom, France, Italy, and Germany. In 1993 Andrew Gobea was born with severe combined immunodeficiency (SCID). Genetic screening before birth showed that he had SCID. Blood was removed from Andrews placenta and umbilical cord immediately after birth, containing stem cells. The allele that codes for ADA was obtained and was inserted into a retrovirus. Retroviruses and stem cells were mixed, after which the viruses entered and inserted the gene into the stem cells chromosomes. Stem cells containing the working ADA gene were injected into Andrews blood system via a vein. Injections of the ADA enzyme were also given weekly. For four years T cells (white blood cells), produced by stem cells, made ADA enzymes using the ADA gene. After four years more treatment was needed. The 1999 death of Jesse Gelsinger in a gene therapy clinical trial resulted in a significant setback to gene therapy research in the United States. Jesse Gelsinger had ornithine transcarbamylase deficiency. In a clinical trial at the University of Pennsylvania, he was injected with an adenoviral vector carrying a corrected gene to test the safety of use of this procedure. He suffered a massive immune response triggered by the use of the viral vector, and died four days later. As a result, the U.S. FDA suspended several clinical trials pending the re-evaluation of ethical and procedural practices in the field.

2003:

In 2003 a University of California, Los Angeles research team inserted genes into the brain using liposomes coated in a polymer called polyethylene glycol. The transfer of genes into the brain is a significant achievement because viral vectors are too big to get across the bloodbrain barrier. This method has potential for treating Parkinsons disease. RNA interference or gene silencing may be a new way to treat Huntingtons disease. Short pieces of double-stranded RNA (short, interfering RNAs or siRNAs) are used by cells to degrade RNA of a particular sequence. If a siRNA is designed to match the RNA copied from a faulty gene, then the abnormal protein product of that gene will not be produced.

2006:

In March 2006 an international group of scientists announced the successful use of gene therapy to treat two adult patients for X-linked chronic granulomatous disease, a disease which affects myeloid cells and which gives a defective immune system. The study, published in Nature Medicine, is believed to be the first to show that gene therapy can cure diseases of the myeloid system. In May 2006 a team of scientists led by Dr. Luigi Naldini and Dr. Brian Brown from the San Raffaele Telethon Institute for Gene Therapy (HSR-TIGET) in Milan, Italy reported a breakthrough for gene therapy in which they developed a way to prevent the immune system from rejecting a newly delivered gene. Similar to organ transplantation, gene therapy has been plagued by the problem of immune rejection. So far, delivery of the normal gene has been difficult because the immune system recognizes the new gene as foreign and rejects the cells carrying it. To overcome this problem, the HSR-TIGET group utilized a newly uncovered network of genes regulated by molecules known as microRNAs. Dr. Naldinis group reasoned that they could use this natural function of microRNA to selectively turn off the identity of their therapeutic gene in cells of the immune system and prevent the gene from being found and destroyed. The researchers injected mice with the gene containing an immune-cell microRNA target sequence, and the mice did not reject the gene, as previously occurred when vectors without the microRNA target sequence were used. This work will have important implications for the treatment of hemophilia and other genetic diseases by gene therapy. In August 2006, scientists at the National Institutes of Health (Bethesda, Maryland) successfully treated metastatic melanoma in two patients using killer T cells genetically retargeted to attack the cancer cells. This study constitutes one of the first demonstrations that gene therapy can be effective in treating cancer. In November 2006 Preston Nix from the University of Pennsylvania School of Medicine reported on VRX496, a gene-based immunotherapy for the treatment of human immunodeficiency virus (HIV) that uses a lentiviral vector for delivery of an antisense gene against the HIV envelope. In the Phase I trial enrolling five subjects with chronic HIV infection who had failed to respond to at least two antiretroviral regimens, a single intravenous infusion of autologous CD4 T cells genetically modified with VRX496 was safe and well tolerated. All patients had stable or decreased viral load; four of the five patients had stable or increased CD4 T cell counts. In addition, all five patients had stable or increased immune response to HIV antigens and other pathogens. This was the first evaluation of a lentiviral vector administered in U.S. Food and Drug Administration-approved human clinical trials for any disease. Data from an ongoing Phase I/II clinical trial were presented at CROI 2009.

2007:

On 1 May 2007 Moorfields Eye Hospital and University College Londons Institute of Ophthalmology announced the worlds first gene therapy trial for inherited retinal disease. The first operation was carried out on a 23 year-old British male, Robert Johnson, in early 2007. Lebers congenital amaurosis is an inherited blinding disease caused by mutations in the RPE65 gene. The results of a small clinical trial in children were published in New England Journal of Medicine in April 2008. They researched the safety of the subretinal delivery of recombinant adeno-associated virus (AAV) carrying RPE65 gene, and found it yielded positive results, with patients having modest increase in vision, and, perhaps more importantly, no apparent side-effects.

2008:

In May 2008, two more groups, one at the University of Florida and another at the University of Pennsylvania, reported positive results in independent clinical trials using gene therapy to treat Lebers congenital amaurosis. In all three clinical trials, patients recovered functional vision without apparent side-effects. These studies, which used adeno-associated virus, have spawned a number of new studies investigating gene therapy for human retinal disease.

2009:

In September 2009, the journal Nature reported that researchers at the University of Washington and University of Florida were able to give trichromatic vision to squirrel monkeys using gene therapy, a hopeful precursor to a treatment for color blindness in humans. In November 2009, the journal Science reported that researchers succeeded at halting a fatal genetic disorder called adrenoleukodystrophy in two children using a lentivirus vector to deliver a functioning version of ABCD1, the gene that is mutated in the disorder.

2010:

A paper by Komromy et al. published in April 2010, deals with gene therapy for a form of achromatopsia in dogs. Achromatopsia, or complete color blindness, is presented as an ideal model to develop gene therapy directed to cone photoreceptors. Cone function and day vision have been restored for at least 33 months in two young dogs with achromatopsia. However, the therapy was less efficient for older dogs. In September 2010, it was announced that an 18 year old male patient in France with beta-thalassemia major had been successfully treated with gene therapy. Beta-thalassemia major is an inherited blood disease in which beta haemoglobin is missing and patients are dependent on regular lifelong blood transfusions. A team directed by Dr. Phillipe Leboulch (of the University of Paris, Bluebird Bio and Harvard Medical School) used a lentiviral vector to transduce the human -globin gene into purified blood and marrow cells obtained from the patient in June 2007. The patients haemoglobin levels were stable at 9 to 10 g/dL, about a third of the hemoglobin contained the form introduced by the viral vector and blood transfusions had not been needed. Further clinical trials were planned. Bone marrow transplants are the only cure for thalassemia but 75% of patients are unable to find a matching bone marrow donor.

2011:

In 2007 and 2008, a man being treated by Gero Htter was cured of HIV by repeated Hematopoietic stem cell transplantation with double-delta-32 mutation which disables the CCR5 receptor; this cure was not completely accepted by the medical community until 2011. This cure required complete ablation of existing bone marrow which is very debilitating. In August 2011, two of three subjects of a pilot study were confirmed to have been cured from chronic lymphocytic leukemia (CLL). The study carried out by the researchers at the University of Pennsylvania used genetically modified T cells to attack cells that expressed the CD19 protein to fight the disease. In 2013, the researchers announced that 26 of 59 patients had achieved complete remission and the original patient had remained tumor-free. Human HGF plasmid DNA therapy of cardiomyocytes is being examined as a potential treatment for coronary artery disease as well as treatment for the damage that occurs to the heart after myocardial infarction.

2012:

The FDA approves clinical trials of the use of gene therapy on thalassemia major patients in the US. Researchers at Memorial Sloan Kettering Cancer Center in New York begin to recruit 10 participants for the study in July 2012. The study is expected to end in 2014. In July 2012, the European Medicines Agency recommended approval of a gene therapy treatment for the first time in either Europe or the United States. The treatment, called Alipogene tiparvovec (Glybera), compensates for lipoprotein lipase deficiency (LPLD), which can cause severe pancreatitis. People with LPLD cannot break down fat, and must manage their disease with a restricted diet. However, dietary management is difficult, and a high proportion of patients suffer life-threatening pancreatitis. The recommendation was endorsed by the European Commission in November 2012 and commercial rollout is expected in late 2013. In December 2012, it was reported that 10 of 13 patients with multiple myeloma were in remission or very close to it three months after being injected with a treatment involving genetically engineered T cells to target proteins NY-ESO-1 and LAGE-1 which exist only on cancerous myeloma cells.

2013:

In March 2013, Researchers at the Memorial Sloan-Kettering Cancer Center in New York, reported that three of five subjects who had acute lymphocytic leukemia (ALL) had been in remission for five months to two years after being treated with genetically modified T cells which attacked cells with CD19 genes on their surface, i.e. all B-cells, cancerous or not. The researchers believed that the patients immune systems would make normal T-cells and B-cells after a couple of months however they were given bone marrow to make sure. One patient had relapsed and died and one had died of a blood clot unrelated to the disease. Following encouraging Phase 1 trials, in April 2013, researchers in the UK and the US announced they were starting Phase 2 clinical trials (called CUPID2 and SERCA-LVAD) on 250 patients at several hospitals in the US and Europe to use gene therapy to combat heart disease. These trials were designed to increase the levels of SERCA2a protein in the heart muscles and improve the function of these muscles. The FDA granted this a Breakthrough Therapy Designation which would speed up the trial and approval process in the USA. In July 2013 the Italian San Raffaele Telethon Institute for Gene Therapy (HSR-TIGET) reported that six children with two severe hereditary diseases had been treated with a partially deactivated lentivirus to replace a faulty gene and after 732 months the results were promising. Three of the children had metachromatic leukodystrophy which causes children to lose cognitive and motor skills. The other children had Wiskott-Aldrich syndrome which leaves them to open to infection, autoimmune diseases and cancer due to a faulty immune system. In October 2013, the Great Ormond Street Hospital, London reported that two children born with adenosine deaminase severe combined immunodeficiency disease (ADA-SCID) had been treated with genetically engineered stem cells 18 months previously and their immune systems were showing signs of full recovery. Another three children treated since then were also making good progress. ADA-SCID children have no functioning immune system and are sometimes known as bubble children. In October 2013, Amit Nathswani of the Royal Free London NHS Foundation Trust in London reported that they had treated six people with haemophilia in early 2011 using genetically engineered adeno-associated virus. Over two years later all six were still producing blood plasma clotting factor.

2014:

In January 2014, researchers at the University of Oxford reported that six people suffering from choroideremia had been treated with a genetically engineered adeno-associated virus with a copy of a gene REP1. Over a six month to two year period all had improved their sight. Choroideremia is an inherited genetic eye disease for which in the past there has been no treatment and patients eventually go blind. In March 2014 researchers at the University of Pennsylvania reported that 12 patients with HIV had been treated since 2009 in a trial with a genetically engineered virus with a rare mutation known to protect against HIV (CCR5 deficiency). Results were promising.

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The three main issues for the coming decade will be public perceptions, scale-up and manufacturing, and commercial considerations. Focusing on single-gene applications, which tend to be rarer diseases, will produce successful results sooner than the current focus on the commoner, yet more complex, cancer and heart diseases.

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What is Gene?

A gene is an important unit of hereditary information. It provides the code for living organisms traits, characteristics, function, and physical development. Each person has around 25,000 genes that are located on 46 chromosomes. Gene is a segment of DNA found on chromosome that codes for a particular protein. It acts as a blue print for making enzymes and other proteins for every biochemical reaction and structure of body.

What is allele?

Alleles are two or more alternative forms of a gene that can occupy a specific locus (location) on a chromosome.

What is DNA?

Deoxyribonucleic acid (DNA) is a nucleic acid that contains the genetic information used in the development and function of all known living organisms. The main role of DNA is the long-term storage of information. DNA is often compared to a set of blueprints or a recipe or code, since it contains the instructions needed to construct other components of cells, such as proteins. The DNA segments that carry this genetic information are called genes.

What are Chromosomes?

A chromosome is a singular piece of DNA, which contains many genes. Chromosomes also contain DNA-bound proteins, which serve to package the DNA and control its functions. Chromosomes are found inside the nucleus of cells.

What are Proteins?

Proteins are large organic compounds made of amino acids. They are involved in many processes within cells. Proteins act as building blocks, or function as enzymes and are important in communication among cells.

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What are plasmids?

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Plasmid is any extrachromosomal heritable determinant. Plasmids are fragments of double-stranded DNA that can replicate independently of chromosomal DNA, and usually carry genes. Although they can be found in Bacteria, Archaea and Eukaryotes, they play the most significant biological role in bacteria where they can be passed from one bacterium to another by horizontal gene transfer, usually providing a context-dependent selective advantage, such as antibiotic resistance.

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In the center of every cell in your body is a region called the nucleus. The nucleus contains your DNA which is the genetic code you inherited from each of your parents. The DNA is ribbon-like in structure, but normally exists in a condensed form called chromosomes. You have 46 chromosomes (23 from each parent), which are in turn comprised of thousands of genes. These genes encode instructions on how to make proteins. Proteins make up the majority of a cells structure and perform most life functions. Genes tell cells how to work, control our growth and development, and determine what we look like and how our bodies work. They also play a role in the repair of damaged cells and tissues. Each person has more than 25,000 genes, which are made up of DNA. You have 2 copies of every gene, 1 inherited from your mother and 1 from your father.

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DNA or deoxyribonucleic acid is the very long molecule that encodes the genetic information. A gene is a stretch of DNA required to make a functional product such as part or all of a protein. People have about 25,000 genes. During gene therapy, DNA that codes for specific genes is delivered to individual cells in the body.

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The Human Genome:

The human genome is the entire genetic code that resides in every cell in your body (with the exception of red blood cells). The genome is divided into 23 chromosome pairs. During reproduction, two copies of the chromosomes (one from each parent) are passed onto the offspring. While most chromosomes are identical for males and females, the exceptions are the sex chromosomes (known as the X and Y chromosomes). Each chromosome contains thousands of individual genes. These genes can be further divided into sequences called exons and introns, which are in turn made up of even shorter sequences called codons. And finally, the codons are made up of base pairs, combinations of four bases: adenine, cytosine, thymine, and guanine. Or A, C, T, and G for short. The human genome is vast, containing an estimated 3.2 billion base pairs. To put that in perspective, if the genome was a book, it would be hundreds of thousands of pages long. Thats enough room for a dozen copies of the entire Encyclopaedia Britannica, and all of it fits inside a microscopic cell.

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Our genes help make us unique. Inherited from our parents, they go far in determining our physical traits like eye color and the color and texture of our hair. They also determine things like whether babies will be male or female, the amount of oxygen blood can carry, and the likelihood of getting certain diseases. Scientists believe that every human has about 25,000 genes per cell. A mutation, or change, in any one of these genes can result in a disease, physical disability, or shortened life span. These mutations can be passed from one generation to another, inherited just like a mothers curly hair or a fathers brown eyes. Mutations also can occur spontaneously in some cases, without having been passed on by a parent. With gene therapy, the treatment or elimination of inherited diseases or physical conditions due to these mutations could become a reality. Gene therapy involves the manipulation of genes to fight or prevent diseases. Put simply, it introduces a good gene into a person who has a disease caused by a bad gene. Variations on genes are known as alleles. Because of changes in the genetic code caused by mutations, there are often more than one type of gene in the gene pool. For example, there is a specific gene to determine a persons blood type. Therefore, a person with blood type A will have a different version of that gene than a person with blood type B. Some genes work in tandem with each other.

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Genes to protein:

Chromosomes contain long chains of DNA built with repeating subunits known as nucleotides. That means a single gene is a finite stretch of DNA with a specific sequence of nucleotides. Those nucleotides act as a blueprint for a specific protein, which gets assembled in a cell using a multistep process.

1. The first step, known as transcription, begins when a DNA molecule unzips and serves as a template to create a single strand of complementary messenger RNA.

2. The messenger RNA then travels out of the nucleus and into the cytoplasm, where it attaches to a structure called the ribosome.

3. There, the genetic code stored in the messenger RNA, which itself reflects the code in the DNA, determines a precise sequence of amino acids. This step is known as translation, and it results in a long chain of amino acids a protein.

Proteins are the workhorses of cells. They help build the physical infrastructure, but they also control and regulate important metabolic pathways. If a gene malfunctions if, say, its sequence of nucleotides gets scrambled then its corresponding protein wont be made or wont be made correctly. Biologists call this a mutation, and mutations can lead to all sorts of problems, such as cancer and phenylketonuria. Gene therapy tries to restore or replace a defective gene, bringing back a cells ability to make a missing protein.

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Length measurements of DNA/RNA:

The following abbreviations are commonly used to describe the length of a DNA/RNA molecule:

bp = base pair(s) one bp corresponds to approximately 3.4 (340 pm) of length along the strand, or to roughly 618 or 643 daltons for DNA and RNA respectively.

kb (= kbp) = kilo base pairs = 1,000 bp

Mb = mega base pairs = 1,000,000 bp

Gb = giga base pairs = 1,000,000,000 bp.

For case of single-stranded DNA/RNA units of nucleotides are used, abbreviated nt (or knt, Mnt, Gnt), as they are not paired.

Note:

Please do not confuse these terms with computer data units.

kb in molecular biology is kilobase pairs = 1000 base pairs

kb in computer data is kilobytes = 1000 bytes

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