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Archive for the ‘Gene Therapy Doctor’ Category

South Bend man a ‘walking miracle’ after cancer treatment breakthrough – South Bend Tribune

Scott McIntyre calls himself a walking miracle, and he wants to tell the world about it.

I was given three to six months to survive and Im 16 months in remission, said the 53-year-old South Bend man. I would love to get the story out and let people have hope. Dont give up. You never know.

On Friday, a University of Chicago Medicine marketing team shot video and still images of Scott at Shamrock Truck Sales, the semi-truck sales and service business he co-owns near LaPaz. His face will adorn billboards, digital and print ads in Chicagoland and northwest Indiana as soon as the U.S. Food and Drug Administration approves what UCM is calling a revolutionary breakthrough in cancer treatment.

If that FDA approval comes and UCM is preparing for it to come very soon UCM will have one of the only facilities in the Midwest certified to administer chimeric antigen receptor T-cell infusion, or CAR T-cell, a newer form of immunotherapy.

Video: CAR T treatment gives hope in cancer fight

In CAR T-cell therapy, a type of white blood cell called T-cells are extracted from the patients blood and modified in the lab to recognize specific cancer cells. These supercharged T-cells are then infused back into the patient, where they search out and destroy cancer cells.

The therapy, often described as a living drug because it is customized with each patients T-cells, will be marketed as Kymriah by Swiss pharmaceutical maker Novartis.

Scott was excited to hear news Wednesday that the FDA approved the same treatment for a form of childhood leukemia, meaning, he hopes, that it won’t be long before it’s approved for his form of cancer, diffuse large B-cell lymphoma. The FDA called the approval “historic” because it marks the first cell-based gene therapy approved in the United States.

Scott is one of 130 patients nationally in the clinical trial for his form of lymphoma, and he was the first to receive the treatment at UCM. That happened in May 2016, when he had exhausted all other options.

Scott has been feeling good for just less than a year. Chemotherapy has taken his hair three times but he has a full head of it once again. He can play an entire round of golf with his son. An avid Notre Dame football fan and season ticket holder, he had to miss each game in 2015, but plans to attend every game this season.

In May 2013, Scott noticed a painful growth in his groin area. His family doctor, Dr. Joseph Caruso, said he had developed a swollen lymph node, which could have resulted from his body trying to fight off an infection. Caruso asked him if he had recently had an infection, and Scott recounted recently stepping on a rusty nail while the roof on his home was being replaced. Caruso prescribed an antibiotic and the swelling seemed to go away.

But four months later, while in the shower, Scott noticed another lump under his arm. He went back to Caruso, who referred him to South Bend-based Beacon Health System oncologist Dr. Thomas Reid. After some scans, Reid diagnosed Stage 3 lymphoma.

Reid administered the standard treatment, four cycles of a chemotherapy regimen known as R-CHOP, an effective but highly toxic blend of drugs causing severe side effects. The fourth cycle had to be delayed because he developed appendicitis, and it was tougher than the first three.

After all of that, the cancer started growing again just two months later.

Reid referred him to Dr. Sonali Smith, professor of medicine and director of UCMs lymphoma program. Smith and her team knew the CAR T-cell therapy was being investigated in a few select centers. Their short-term goal was to keep him alive until they could be cleared to administer the clinical trial.

In February 2015, Scott received a stem-cell transplant, which went smoothly. But three months later, the cancer again started growing. Participation in two more clinical trials and some precisely targeted radiation therapy bought a little more time, but by late 2015, his lymphoma was gaining on him.

Then, in early February 2016, the UCM team received the go-ahead for the CAR T-cell treatment and began harvesting his T cells, a process that resembles dialysis. Scott said another patient had been slated to receive the treatment first, but that patient died.

It was during an appointment in May 2016, just a week before the treatment, that Scott first grasped how close he was to dying. Smith told him the treatment could cause severe side effects, including death. Five people in the trial had died.

I said, I understand. What other options do I have? Scott recalled. She says, Oh youve already surpassed all expectations. I said, What do you mean by that? And thats when she said, after the stem cell, if it comes back, life expectancy is six months. It was a rough day. On the way home I was pretty shaken up.

A little after 9:30 a.m. on May 18, 2016, Scott, sporting a Notre Dame baseball cap, was prepared for the treatment. Carefully observing was Dr. Michael Bishop, professor of medicine and director of the Hematopoietic Cellular Therapy Program at UCM, and about a dozen members of his team. A technician brought in his modified T-cells, thawed them out and infused them into Scott intravenously.

Ten minutes later, the treatment was finished. Afterward, he and his wife Cindy spent 28 days in the hospital and then were required to live in an apartment within 10 minutes of the university hospital. They were allowed to move back home to South Bend in July, about two months after the treatment.

Its incredible, Cindy said of Scotts recovery thus far. We did not realize what we were getting into, all of the risks, until days before. She (Dr. Smith) may have mentioned it but it didnt sink in. We both realized that win, lose or draw, theyre going to learn so much, just from how he responds to it.

Cindy praised how well Drs. Reid and Smith worked together between South Bend and Chicago, and how they told them just enough to be informed without telling them so much that they panicked.

She said, theres this trial, Cindy said. This is for you. You were designed for this trial and it was designed for you. We just have to keep you going until we can give it to you.

The treatment was on a Wednesday. By Friday night, his first fever came and it wasnt a surprise. Once they enter the body, each T cell multiplies rapidly, producing thousands of offspring. Then they launch a vigorous assault. All of that warfare occurring inside the body can cause severe flu-like symptoms: fever, swelling, low blood pressure.

On Sunday his fever spiked to 104 degrees. They packed him in ice around his neck and under his arms, and managed to break the fever without sending him into intensive care.

He also experienced some neurological effects, including tremors, cognitive delays and blurred vision.

Now, more than a year later, Smith still wants to see Scott every three months, and he remains very susceptible to infections because his immunity will always be compromised not from the CAR T-cell but from all of the chemotherapy. He still has some swelling because the scar tissue from three surgeries restricts the flow of lymphotic fluids.

I feel it all the time and I have very limited range of movements but it doesnt stop me, he said.

Unless the lawn needs to be mowed, then it really bothers him, she said. Some things will never change.

She said she never imagined she had married a pioneer.

I knew I had married somebody very unique, very special, but definitely not a pioneer, she said. He was the last person you ever thought would be sick. Doesnt drink. Doesnt smoke. Never had ventured on the wild side. This wasnt supposed to happen.

So far the FDA has only approved T-cell treatments for blood cancers, such as lymphoma and leukemia, but not solid tumor cancers, such as breast and colon cancer, which kill many more people. But Bishop of UCM said that day is coming. He expects those clinical trials to begin within a year or two, and receive FDA approval within about five years.

Its very exciting, Bishop said. The technology is a little more complicated but it has the potential to treat a broad spectrum of cancers. Ive been doing this for 25 years and this is one of the most significant advances Ive seen in my career.

Meanwhile, Scott will keep telling his story of hope to everyone he can, including himself. Bishop said Scott’s cancer has a 10- to 20-percent chance to recur.

Youre still thinking that the other shoe can drop, Scott said. The mantra I use when negative thoughts enter my head is, Alright Scott, are you giving up? No. Are you quitting? No. Then shut up. I dont know if that will ever go away.

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South Bend man a ‘walking miracle’ after cancer treatment breakthrough – South Bend Tribune

UTSA Presidential Lecture featuring Leonard Pinchuk – UTSA Today

UTSA Presidential Lecture featuring Leonard Pinchuk UC Retama Auditorium 2.02.021 UTSA Circle – San Antonio

29.5843443-98.6173559

Date/Time: 09/14/201711:00 am – 12:00 pm

Location:UC Retama Auditorium 2.02.021 UTSA CircleSan Antonio,

United States

Leonard Pinchuk Ph.D., D.Sc., (h.c.), NAE presents

Dr. Leonard Pinchuk, recipient of BioMed SAs 2017 Award for Innovation in Healthcare and Bioscience, is a serial inventor and entrepreneur with over 120 issued U.S. patents and 80 publications, and has co-founded 10 biomedical companies. His major accomplishments include the invention of the worlds first commercially successful and most widely used angioplasty balloon catheters, the helical wire stent, the modular stent-graft, a drug-eluting stent (TAXUS), two biostable implantable biomaterials (polycarbonate urethane and poly(styrene-block-isobutylene-block-styrene)), a novel glaucoma shunt (InnFocus MicroShunt) and the next generation intraocular lens material.He received a B.Sc. in Chemistry from McGill University (1976), a Ph.D. interdisciplinary in Engineering and Chemistry from the University of Miami (1984) and an honorary Doctor of Science degree from McGill University (2005). He was inducted into AIMBE in 2007 and the National Academy of Engineering in 2012 and is the recipient of the 2017 Society for Biomaterials Technology, Innovation and Development Award.Dr. Pinchuk began his career in 1983 at Cordis Corporation and left in 1987 to co-found Corvita Corporation (angioplasty catheters, vascular grafts, stents, stent-grafts) which went public on the NASDAQ in 1994, was acquired by Pfizer, Inc. in 1996, and was then sold to Boston Scientific Corporation in 1998. Dr. Pinchuk founded Innovia LLC in 2002 and continues to serve as President and CEO. Innovia has incubated eight companies working in the fields of intraocular lenses, glaucoma shunts, radiation oncology catheters, urinary catheters, gene therapy and futuristic biomaterials. One of the Innovia spin-offs, InnFocus, Inc., developed a novel medical device to treat glaucoma and was acquired by Santen Pharmaceuticals in August 2016. Dr. Pinchuk will continue to serve as InnFocus CSO for the next three years. Dr. Pinchuk also enjoys an appointment as Research Professor of Biomedical Engineering at the University of Miami (Miami, FL).

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UTSA Presidential Lecture featuring Leonard Pinchuk – UTSA Today

Why the federal government urgently needs to fund more cancer research – Los Angeles Times

Two weeks ago I lay in a hospital bed at the University of Pennsylvanias Perelman Center for Advanced Medicine and watched a clear, garlicky-smelling bag of my re-engineered white blood cells drip into my veins.

The bag contained not only my collected T cells but also magic sauce from Novartis, the drug company financing a trial of a gene therapy for my specific mutation of multiple myeloma, a blood cancer.

This living drug, a CAR-T treatment, may revitalize my immune system and erase my myeloma tumors and save my life. It could also kill me.

Last month, the Federal Drug Administration approved the first CAR-T therapy, Kymriah, to treat a leukemia that mainly affects children. My myeloma trial is an outgrowth of that promising effort. Researchers say that just one of my retooled cells can kill 100,000 cancer cells, and theyve infused millions of them.

But no one can guarantee me a happy ending. From my research, I figure I have a 1-in-9 shot at beating my wily myeloma and then for only a year or so.

Still, I consider myself lucky. Fewer than 5% of cancer patients will get into potentially beneficial clinical trials this year, and I am one of them.

Since 2003, under Democratic and Republican administrations, the National Institutes of Health budget has been cut by 15.5%, after inflation. This has left far too little NIH money for basic research and prevention, including for oncology trials. Drug companies now underwrite about 71% of the thousands of cancer trials that are conducted in the U.S. each year.

This sets back basic cancer research in several ways. Because drug companies are investing millions, if not billions, to develop proprietary, patented medicines, they dont share their discoveries as openly as the NIH does. Perhaps worse, they recklessly duplicate trials for certain common cancers, such as melanoma, to the point where around 40% fizzle out for a lack of patients to test.

By contrast, my doctors and I couldnt find a trial slot for my disease, from Seattle to Hackensack, except for the very last opening at Perelman.

Initially I was rated behind another desperately ill person and received a gut-punch email: We can not offer you a spot. In the end, I replaced a sick patient who did not meet the trials strict protocols, even though the patient needed treatment as much, or more, than I did.

Leading medical scientists say it is in our national interest to fund far more research, especially in cutting-edge immunology, which appears close to curing blood cancers. But although there is surely room in President Trumps 2018 federal budget of $4.1 trillion to fund more government cancer trials, he wants to cut the NIH’s budget further, by nearly 20%.

To think we are going to stop funding biomedical studies and lose skilled scientists seems almost crazy, Dr. Stephen Grupp, a leading leukemia researcher at the Childrens Hospital of Philadelphia, told me. This is the time to invest, not back off.

The American Cancer Societys chief medical officer, Dr. Otis Brawley, noted in a telephone interview that the Department of Defense spends about as much money on bands and music as the NIH spends on breast cancer: Where are our national priorities?

If we do not invest in more research, there is a good chance that we could cede our leadership in biomedical innovation to China or other countries. Had I not gotten the last slot at Perelman, my oncologist was suggesting we explore Beijing, where Chinese researchers are reporting incredible myeloma outcomes. All I had to do to get a trial slot, apparently, was hand over $50,000 cash.

Whether the breakthroughs happen in Philadelphia, Seattle or Beijing, cures for diseases like mine are on the horizon. The sum of medical knowledge doubles every 73 days or so. Researchers, including my own doctor at Perelman, foresee a day in the early 2020s when people with blood cancers will be cured by precision medicine immunology as outpatients.

Millions of patients will follow me, and many of them will be cured. But they could be cured in the next two or three years, rather than five to seven, if Trump were aggressively expanding the NIH budget. Starting by, say, buying fewer Army bass drums and more cancer bullets.

Frank Lalli was the founding editor of New West magazine. He is the author of Your Best Health Care Now.

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Why the federal government urgently needs to fund more cancer research – Los Angeles Times

New ‘hit-and-run’ gene editing tool temporarily rewrites genetics to treat cancer and HIV – GeekWire

Nanoparticles (orange) deliver temporary gene therapy to immune cells (blue) to give them disease-fighting tools. (Fred Hutch Illustration / Kimberly Carney)

CAR T immunotherapies are all the rage in the medical community, reprogramming a patients immune system to fight cancer. For some patients, theyve produced near-miraculous recoveries, and they could be a huge breakthrough in cancer treatment.

The business community is taking note as well: Kite Pharma, a biotech company developing these therapies, announced a deal to be acquired for $11.9 billion on Monday, sending stock prices of Seattle immunotherapy developer Juno Therapeuticsskyrocketing.

But there are still giant pitfalls to using the therapies on a large scale because they are incredibly complex and expensive to produce. Researchers from Seattles Fred Hutchinson Cancer Research Center are taking the problem head-on with new hit-and-run gene editing technology.

In a study published Wednesday in the journal Nature Communications, researchers led by Dr.Matthias Stephan reported they have developed a nanoparticle delivery system that can temporarily alter cells so they are able to fight cancer and other diseases.

The best part? The treatment is a powder that just needs to be mixed with water to activate and even better, it could be an essential breakthrough in making cutting-edge medical technology affordable for patients.

Stephan told GeekWire in a previous piece on the technology that his goal is to make immunotherapy so easy to access that it replaces chemotherapy as the front-line treatment for cancer.

What I envision is like the Walgreens flu shot scenario, or you go to your doctor and you get hepatitis B shot, he said at the time. You go there every Friday, and thats it.

We realized in order to outcompete chemotherapy, we have to design something that is at least as affordable and can be manufactured at large scale by one biotech company and shipped out to local infusion centers, Stephan said. At the moment, CAR T cell therapies must be made individually for each patient in specialized labs.

Heres how the new tech works: The nanoparticles designed by Stephan and his team act like shipping containers for bundles of mRNA, the molecules that tell cells how to build disease-fighting proteins. The nanoparticles also have molecules attached to the outside to help them find the right kind of cells, like a shipping label on a package.

When the mRNA is delivered to the cell, it prompts the cell to grow disease-fighting features, like the chimeric antigen receptor in CAR T cells that help them identify and kill cancer.Researchers said the technology could potentially be used to develop treatments for HIV, diabetes and other immune-related diseases.

In the short run, the tech could help researchers discover new treatments and therapies in the lab. It could one day be used in hospitals and clinics around the world, but will first need to undergo extensive clinical trials to ensure the tech is effective and safe to use in humans.

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New ‘hit-and-run’ gene editing tool temporarily rewrites genetics to treat cancer and HIV – GeekWire

First gene therapy to treat cancer gets FDA approval; UM only Michigan hospital to use it – Detroit Free Press

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Dr. Gregory Yanik, clinical director of the Pediatric Blood and Marrow Transplantation Program at C.S. Mott Children’s Hospital in Ann Arbor, works with Maryam Rasheed of Macomb Township. Maryam was part of a clinical trial using gene therapy to successfully treat her leukemia.(Photo: Sophie Masson/Michigan Medicine)

The U.S. Food and Drug Administrationapproved on Wednesdaythe first-ever gene therapytotreat children and young adults withleukemia.

Called Kymriah, but better known as CAR T-cell treatment, the therapy is being hailed by doctors as revolutionary. Itinvolves genetically modifyinga patient’s own T-cells, which thencantarget and kill a form of acute lymphoblastic leukemiacells.

This new treatment has the potential to change the face of cancer therapy for years to come, not just in childhood acute lymphoblastic leukemia but in other cancers in which a patients own T-cells can be collected, genetically modified and redirected to kill a patients tumor,” said Dr.Gregory Yanik, clinical director of the Pediatric Blood and Marrow Transplantation Program at the University of Michigan’s C.S. Mott Children’s Hospital. Mottwas one of a few hospitals nationally to take part inclinical trials of the treatment.

“This allows us to turn patients own cells into a powerful weapon to fight the disease a weapon that does not rely on chemotherapy but takes a whole new approach to attacking childhood leukemia, Yanik said.

The CAR T-cell treatmentoffers new hope for children like Maryam Rasheed, 10, of Macomb Township.

Maryam was diagnosed with B-cell acute lymphoblastic leukemia at age 4, when her family was seeking refuge from religious persecution in Turkey, said Maryam’s mother, Asmaa Rasheed.

Maryam Rasheed (right) with her brother, Rashid, and sister Samantha. Maryam, 10 of Macomb Township, survived acute lymphoblastic leukemia.(Photo: Rasheed family photo)

“My country is Iraq,” Asmaa Rasheedsaid. “It wasnt safe. We are Christian. It was so hard over there in Baghdad. We run away to Turkey.

“We take her to hospital the first timebecause … she stopped eating, stopped walking, stopped talking. We bring her to emergency. The doctor decided to take her bone marrow to do tests. Then the results came back, and she have leukemia.”

Maryam underwent her firstchemotherapy treatment in Turkey.

“Over there, it was so hard,” Rasheed said. “The doctors dont speak English over there. We know English a little bit. We speak Arabic.”

Maryam Rasheed of Macomb Township undergoes treatment for acute lymphoblastic leukemia. She is now in remission.(Photo: Rasheed family photo)

Rasheed stayed with her daughter for two months in the Turkish hospital. A few months later,the Rasheed family was able to immigrate to the U.S. and settled in Michigan.

But Maryam’s cancer returned. She was treated at Children’s Hospital of Michigan with more chemotherapy and radiation. In 2013,her younger brother, Rashid, proved to be a match for a bone marrow transplant.

Still, the cancer wouldn’t relent.

The Rasheed family learned of a clinical trial for CAR T-cell therapy under way atMott. It was the family’s last chance,Rasheed said.

Maryam Rasheed, 10, of Macomb Township holds up her arms joyfully. She’s surrounded by her sister Samantha (left), brother, Rashid, and baby sister Annabell.(Photo: Rasheed family photo)

“There was nothing to do,” her mother said.”In Detroit, there was chemo, radiation, bone marrow transplant. It returned back three times. She lose her hair three times. It was so hard for her and my family.”

She remembers the date Maryam started the clinical trial at Mott: Dec. 17, 2014. Maryam spent Christmas and her seventh birthday in the hospital.

“I think we waited like 100 days,I dont remember exactly, and they did a bone marrow test, and the medicine, it work!” Rasheed said.

“It was like a dream, you know, like light coming from far away when youre in the dark. Theres nothing else we could do. But the CART-cell was like a shining light from far away.”

Maryam has been in remission two years, andis starting fourth grade next week at Shawnee Elementary School in Macomb Township.

“Now, shes start her life, and doing everything a little kid is doing,” said Rasheed, who says she hopes the treatment helps other children, too.

So does Yanik.

“Acute lymphoblastic leukemia is the most common form of cancer in children, accounting for approximately25% of all childhood cancers,” Yanik said. “This particular therapy utilizes a childs own immune system to target their leukemia.”

Theclinical trials focused on the 15% to 20% ofchildren whoseB-cell acute lymphoblastic leukemia had either relapsed or who had residual leukemia cells in their bone marrow after treatment.

“Historically, such patients would have an estimated cure rate of approximately 10%,” Yanik said. “The two trials were groundbreaking. In the most recent trial, 52 of 63 patients with childhood leukemia successfully entered complete remission with this therapy.”

Novartis Pharmaceuticals Corp. got the FDA approval for the gene cell therapy, whichinvolves drawing blood from childrenwith B-cell acute lymphoblastic leukemia. The T-cellsin the child’s blood are thenshipped to a lab where they are genetically engineered so theywillseek outa particular protein in the leukemia cells and attack. Patients are then infused with the modified blood, and the T-cells go to work to find and kill the leukemia.

The New York Times reported Wednesday that the therapy will cost $475,000 for the initial treatment, with additional treatments administered at no cost.

Although 83% of the children in the clinical trials for CAR T-cell therapy went into remission, Yaniksaid it’s too early to tell howcurative treatmentswill prove in the long run. And, its use will be limited to only a few medical centers in the U.S.

“The University of Michigan is the only site in the state and within this region that is licensed to administer these cells for childhood leukemia,” he said.

Offering the treatment at a large medical center like U-Mis essential, said Dr. Rajen Mody,a pediatric oncologist at Mott, because of the severity ofpotential side effects.

“It can cause serious side effects, especially within the first 21 days,” said Mody, who is Mott’s director of pediatric oncology. “Patients can have high fevers, bleeding complications, trouble breathing, infections. … Thats why a hospital like the University of Michigan is the ideal place. … Patients who undergo this treatment are usually so sick after an infusion of the CAR-T cells, that they can’t be safely treated at smaller hospitals.”

Dr. Rajen Mody, a pediatric oncologist at the University of Michigan’s C.S. Mott Children’s Hospital.(Photo: University of Michigan)

Yanik is hopeful that successful treatment with CAR T-cell therapy in children with leukemia will open the door for similar therapies targeting other cancers.

“Aseparate CAR T-cell trial targeting diffuse large-cell lymphoma was recently completed with the results in that clinical trial now under review at the FDA,” he said. That trial alsoincluded adult patientsat the University of Michigan.

Mody called the gene therapy revolutionary.

“This is clearly a life-saving and potentially curative therapy,” he said.”Its being tested in other types of leukemia and solid tumors. Its too early to say whether its going to work as well for other cancers…. We are not there yet.”

Still, he said, it’s made all the difference for Maryam and her family.

“She was one of the lucky ones coming from Iraq, and with all the things she has survived. And then coming here and surviving this,… she clearly has some goodluck.

“I think she should do very well. Patients who actually survive the first six months and still have CAR T-cells detected in their systems tend todo very, very well.”

Contact Kristen Jordan Shamus: 313-222-5997 or kshamus@freepress.com. Follow her on Twitter @kristenshamus.

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First gene therapy to treat cancer gets FDA approval; UM only Michigan hospital to use it – Detroit Free Press

Man describes new FDA-approved gene therapy for leukemia that changed his life – fox4kc.com

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KANSAS CITY, Mo. — Lucas Novick, 27, has been in a battle with leukemia since his freshman year of college.

“I was having headaches that were so bad that they were causing vomiting pretty regularly and I couldn`t see straight well enough that I felt safe driving myself to school,” Novick said.

Since 2009, Novick has endured a number of treatments including chemotherapy and a bone marrow transplant. The treatments have taken a physical and mental toll on Novick’s body.

“The transplant that was supposed to save my life also nearly took it from me,” Novick said. “The damage chemotherapy did to my body when I was first treated in 2009 and 2010 was such that I was walking with a cane after my 21st birthday. It did so much damage to my hip joints that they were replaced in 2011.”

But after Novick’s leukemia returned for a second time, he went to Children’s Mercy Hospital where doctors were performing an experimental treatment.

“The approval of the CTL019 product for pediatric patients with relapsed refractory acute lymphoblastic leukemia is really exciting for us,” Doctor Doug Myers, of Children’s Mercy Hospital, said. “We`ve spent a lot of time working on ways to get the immune system into the fight against cancer because we think it can decrease toxicity, decrease the amount of chemotherapy and radiation that we use for these cancers.”

Dr. Myers said the treatment helped Novick, a musician, back onto the stage and has held his leukemia awayfor two years.

“Those are really special rewards for us in this field that have seen so many failures of this type of therapy in the past. To see this go forward, move forward, do well enough for a pharmaceutical company will pick this up and take it the rest of the way, that`s a really special time for us,” Dr. Myers said.

While doctors believe it’s too early to call the new treatment a cure, many agree this is the first step to a new generation of cancer treatment.

“I know at the end of the day that this is the future of medicine,” Novick said.

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Man describes new FDA-approved gene therapy for leukemia that changed his life – fox4kc.com

Gilead is buying Kite Pharma, a cancer-fighting Santa Monica biotech firm, for $11.9 billion – Los Angeles Times

Santa Monica biotech company Kite Pharma Inc. is being acquired by industry giant Gilead Sciences Inc. in an $11.9-billion deal that demonstrates the promise of using a persons own immune system to fight cancer.

Foster City-based Gilead said Monday that it would maintain and even expand Kite Pharmas Los Angeles area operations, which include a 100,000-square-foot manufacturing facility in El Segundo.

Dr. Arie Belldegrun, Kite Pharmas founder and chief executive, will help during the merger transition, a Gilead spokeswoman said, but she offered no details on leadership plans beyond that.

The purchase of Kite, which is on the verge of gaining approval for an innovative treatment, expands the cancer-fighting portfolio of Gilead.

The acquisition of Kite establishes Gilead as a leader in cellular therapy and provides a foundation from which to drive continued innovation for people with advanced cancers, Gilead Chief Executive John F. Milligan said in a statement.

Kite Pharma has a cell therapy treatment for non-Hodgkins lymphoma under review by the Food and Drug Administration that uses a patients immune cells to fight cancerous cells. Swiss drugmaker Novartis Corp. also is developing a similar cell therapy treatment for a rare form of leukemia, which is poised to become the first gene therapy to receive FDA approval.

Cell therapy, like many cancer treatments, is expected to be expensive. The costs to patients and providers could cause problems for Gilead, which has come under fire for the high price of its drugs.

Kevin Young, Gileads chief operating officer, would not say Monday what the treatment would cost. But he told analysts on a conference call that I certainly think this innovation will support very healthy reimbursement.

Gilead is to pay $180 in cash for each share of Kite Pharma, a 29% premium over the Friday closing price. Kite Pharma stock leaped 28% to $178.05 on Monday. Gilead shares rose about 1% to $74.69.

Since the start of the year, Kite Pharmas stock price has nearly quadrupled. The shares got a significant boost after a study of the companys gene therapy reported positive results.

The boards of both companies have approved the deal, and its expected to close by the end of the year.

Gilead has developed top-selling treatments for HIV and the liver-destroying hepatitis C virus, but leaders of the biotechnology company told analysts Monday that its push into oncology has been largely nascent so far.

Kite Pharmas research and development, as well as commercialization operations, are to remain in Santa Monica. Manufacturing of Kite Pharmas treatment is to continue at the facility in El Segundo. Kite Pharma has about 600 employees at the two facilities combined, company spokeswoman Christine Cassiano said.

Gilead was impressed with Kite Pharmas team and plans to keep investing in its operations, said Gilead spokeswoman Amy Flood.

The transaction is not about financial synergies or cost savings, she said. This is a growth area, and we anticipate we will increase the number of employees at Kite.

Analysts said it made sense for Gilead to keep and even expand Kite Pharmas Los Angeles-area operations.

That manufacturing in L.A., that marketing team, I think is really, really critical in the process, especially when theyre about to launch in this area, said Tony Butler, an analyst at Guggenheim Securities.

Its important that they keep that together, he said.

Biren Amin, an equity analyst at Jefferies, said Gilead was unlikely to make a change to Kite Pharmas operations with FDA approval of its treatment right around the corner.

If one even thought about transferring it out of El Segundo, I think it would be next to impossible because youd have to have that site up and running for product launch later this year, Amin said.

Kite Pharma was founded in 2009 by Belldegrun, an Israeli-born cancer doctor with decades of experience in immunotherapy. It went public in 2014.

Its cancer treatment, called CAR T, involves reprogramming a patient’s disease-fighting T-cells to seek and destroy only abnormal, cancerous lymph cells. Healthy cells are not harmed.

The process involves drawing blood from a patient, refrigerating it and flying it to Kites facilities, where the cells are modified, frozen and then flown back to doctors who reinject them into patients.

In a 2015 interview with the Los Angeles Times, Belldegrun likened the cancer-fighting treatment to the navigation system in an automobile.

“The GPS will lead you to the cancer cell, and not the normal cell, and selectively kill only the cancer cell,” Belldegrun said.

In February, Kite Pharma reported that a major study of the gene therapy process found that more than a third of very sick lymphoma patients showed no signs of the disease six months after a single treatment. And 82% of patients had their cancer shrink at least by half at some point after the treatment, the study found.

CAR T has the potential to become one of the most powerful anti-cancer agents for hematologic cancers, Belldegrun said in a statement Monday. With Gileads expertise and support, we hope to fulfill that potential by rapidly accelerating our robust pipeline and next-generation research and manufacturing technologies.

Gilead was criticized two years ago for high prices for its hepatitis C drugs, including one that began at $1,000 per pill. The drugs were developed by biotech firm Pharmasset Inc., which Gilead acquired in 2011.

A bipartisan Senate Finance Committee report in 2015 said that Gilead put profits before patients in pricing the drug. Also, AIDS activists have complained about the prices of Gileads HIV medications.

The CAR T treatment could be expensive as well because of the complexities of the therapy. Novartis treatment very likely will hit the market first so Gilead will have that price to work from, said Alan Carr, an analyst at Needham & Co.

There are a lot of oncology drugs right now that are expensive. Theres a lot of controversy around that, he said. Im not sure that Gilead is particularly susceptible to that.

The Associated Press was used in compiling this report.

Twitter: @JimPuzzanghera

jim.puzzanghera@latimes.com

UPDATES:

3:15 p.m.: This article was updated with information about Kite Pharma founder Dr. Arie Belldegrun.

1:25 p.m.: This article was updated with the closing stock prices for Kite Pharma and Gilead Sciences.

1:05 p.m.: This article was updated with analyst comment and additional details about drug pricing.

8:30 a.m.: This article was updated with details about Kite Pharmas workforce and current stock prices.

7 a.m.: This article was updated with additional detail and the opening stock prices of Kite Pharma and Gilead.

6:45 a.m.: This article was updated throughout with staff reporting.

This article was originally published at 5:25 a.m.

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Gilead is buying Kite Pharma, a cancer-fighting Santa Monica biotech firm, for $11.9 billion – Los Angeles Times

Stanford Center Hopes to Take Stem Cell and Gene Therapies to a New Level – Sickle Cell Anemia News

The new Stanford Center for Definitive and Curative Medicine will fosterthe development ofstem cell and gene therapies for genetic diseases, including sickle cell anemia.

More than280 million people around the world have diseases with genetic causes, experts estimate. While research has identified the underlying causes of several, scientists have developed few therapies that can address the causes or cure the diseases.

Treatments have been developed thatsignificantly improve patients health, however. They include public health initiatives, targeted therapies and surgery.

Scientists believe stem cell and gene therapy can cure some genetic diseases. They would likely do this either by rewiring cells to fight a disease more efficiently or by correcting a genetic errorin a patients DNA.

Stanford not only does excellent research in disease mechanisms, cell and stem cell biology, but also promotes collaboration between its medical schools and hospitals.

The initiative is a joint venture of theStanford University School of Medicine,Stanford Health CareandStanford Childrens Health.

Dean Predicts Center Will Be Major Force in the Precision-health Revolution

The Center for Definitive and Curative Medicine is going to be a major force in theprecision-health revolution, Dr. Lloyd Minor, dean of the School of Medicine, said in a press release. Our hope is that stem cell and gene-based therapeutics will enable Stanford Medicine to not just manage illness but cure it decisively and keep people healthy over a lifetime.

We are entering a new era in medicine, one in which we will put healthy genes into stem cells and transplant them into patients,said Christopher Dawes, the president and CEO of Stanford Childrens Health. And with the Stanford Center for Definitive and Curative Medicine, we will be able to bring these therapies to patients more quickly than ever before.

The work of the center is not being done anywhere else in the country only at Stanford, said David Entwistle, president and CEO of Stanford Health Care. We have a pipeline of clinical translational therapies that the center is now driving forward, enabling us to translate basic science discoveries into state-of-the-art therapies for diseases which up until now have been considered incurable.

Dr. Maria Grazia Roncarolo will direct the center,which will be in the Department of Pediatrics.The renowned medical doctor and scientist is the George D. Smith Professor of Stem Cell and Regenerative Medicine.

It is a privilege to lead the center and to leverage my previous experience to build Stanfords preeminence in stem cell and gene therapies, said Roncarolo, who is also chief of pediatric stem cell transplantation and regenerative medicine, co-director of theBass Center for Childhood Cancer and Blood Diseases,and co-director of theStanford Institute for Stem Cell Biology and Regenerative Medicine.

Main Mission Will Be to Turn Scientific Discoveries Into Treatments

Stanford Medicines unique environment brings together scientific discovery, translational medicine and clinical treatment, Roncarolo added. We will accelerate Stanfords fundamental discoveries toward novel stem cell and gene therapies to transform the field and to bring cures to hundreds of diseases affecting millions of children worldwide.

The centers main mission will be to turn scientific discoveries into treatments. A world-classinterdisciplinary team of scientists should help it deliver on that promise.

Leaders of the team will include Dr. Matthew Porteus, an associate professor of pediatrics, and Dr. Anthony Oro, the Eugene and Gloria Bauer Professor of dermatology. Dr. Sandeep Soni will direct the centers stem cell clinical trial office.

The center will provide novel therapies that can prevent irreversible damage in children, and allow them to live normal, healthy lives, said Dr. Mary Leonard, chair of pediatrics at Stanford Childrens Health. The stem cell and gene therapy efforts within the center are aligned with the strategic vision of the Department of Pediatrics and Stanfordsprecision-healthvision, where we go beyond simply providing treatment for children to instead cure them definitively for their entire lives.

A unique feature of the center will be a close association with the Stanford Laboratory for Cell and Gene Medicine, which is working on new cell and gene therapies.

The lab has already developed genetically corrected bone marrow cells as a treatment for sickle cell anemia. Other genetically modified cells it has created include skin grafts for children with the genetic disease epidermolysis bullosa and lymphocytes for children with leukemia.

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Stanford Center Hopes to Take Stem Cell and Gene Therapies to a New Level – Sickle Cell Anemia News

Baltimore 5K Aims to Raise Awareness about Sickle Cell Disease – Afro American

Charm City wont wait until September to put a spotlight on sickle cell disease.

On Aug. 26 hundreds are expected to join the Sickle Cell Disease Association of America (SCDAA) in Baltimore to bring attention to the disease, educate the public, and raise money for research.

This is an awareness event, said Sonja L. Banks, president and chief operating officer of the SCDAA. We want people to understand that sickle cell still exist and we have to raise national awareness.

Banks said that over 80 percent of all the dollars raised goes back into the community based organizations that really serve patients. Were raising money so they can provide those services and bolster research.

Participants can register for the 4th Annual Walk with the Stars 5K beforehand on the SCDAA website, or register on-site from 8-9:30 a.m. at Canton Waterfront Park before the 10 a.m. kickoff.

The walk is one of many sickle cell awareness events taking place from June to Dec. 31, 2017 as the SCDAAs One Community- One Cause campaign sweeps across the country. The disease affects approximately 100,000 Americans- almost all of whom are Black.

Banks said African-American churches, schools, and community organizations need to make sickle cell disease part of our agenda. We have diabetes, heart disease, AIDs, and cancer as part of our agenda. We need to step it up and add sickle cell disease.

According to the Centers for Disease Control, the term sickle cell disease (SCD) covers a group of inherited red blood cell disorders. SCD occurs when red blood cells take on a sickle or C-shaped form instead of a normal circle shape.

Red blood cells deliver oxygen throughout the body via tiny blood vessels, but this job gets complicated when the sickle cells become hard and sticky, die prematurely, and clog blood vessel entrances. This can cause pain and other serious problems such as infection, acute chest syndrome and stroke.

One out of every 13 African Americans born has the sickle cell trait (SCT) but no SCD symptoms. However, when two parents have the sickle cell trait there is a 25 percent chance that their child will be born with SCD, and a 50 percent chance that someone will pass along the trait. One out of every 365 Black births lead to an SCD diagnosis.

Dr. Sophie Miriam Lanzkron, director of the Sickle Cell Center for Adults at The Johns Hopkins Hospital in Baltimore told the AFRO, The most commonly used therapy is hydroxyurea. It doesnt bring crisis frequencies to zero, but it cuts it in half for people with the most common form of sickle cell disease.

Until last month, hydroxyurea was the only drug approved to treat the disease. Lanzkron said the latest therapy, Endari, is shown to decrease painful episodes by 25 percent. It is not available to the public yet, but could possibly be used along with hydroxyurea in the future.

Lanzkron also said that 98 percent of her patients are African American. Many of them receive chronic transfusion therapy, a monthly blood transfusion that replenishes blood cells and decreases the occurrence of painful crisis. This type of therapy highlights the importance of having blood from the community of the person who needs it.

Other treatments include bone marrow transplants and gene therapy, but both are typically out of reach for patients for a number of reasons.

We used to do bone marrow transplants only with donors who were an exact match but we do half- matches now. A parent or a child can be a donor, said Lanzkron. Still, between the inability to complete preparative regimens, rejection of transplants, the three-month recovery period, and money, bone marrow transplants are rarely an option- especially for adults. In the last decade weve probably had about 50 transplants at Johns Hopkins. That number doesnt include children.

Because pain is the most common symptom of SCD, the disease has presented a unique problem to lawmakers trying to regulate opioid abuse. Lanzkron said pain from SCD can present as early as four to six months, and eventually becomes an everyday occurrence for as many as 60 percent of adults.

These episodes of excruciating pain have been described as worse than child labor. All we can do is give opioids. The new restrictions on the amount and use of opioids thankfully said sickle cell is an exclusion to these new rules.

Lanzkron said, In this day in age everyone should know their trait status, something that Michael L. Matthews, Executive Director of the Childrens Sickle Cell Foundation, urges as well.

Find out if you are a carrier or not- before you decide to have a family, said Matthews, whose own son was diagnosed with SCD. You dont want the first time you hear the term sickle cell to be when the doctor is telling you that your beautiful newborn baby has the disease.

Banks said that information about sickle cell trait status is held by the public health department and some states are not required to tell you if you have the trait- only if you have the disease.

The SCDAA will hold their 45th Annual Convention from Oct. 25- 28 in Atlanta. They will also be raising awareness through social media during Sickle Cell Awareness Month in September with several Twitter campaigns focused on advocacy, awareness, access to treatment, and finding a universal cure.

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Baltimore 5K Aims to Raise Awareness about Sickle Cell Disease – Afro American

Doctor on new cancer treatment: ‘genetically engineered, tumor-killing factory’ – The Business Journal

A high-powerered magnification of chronic lymphocytic leukemia cells (stained in blue). A new treatment may offer better outcomes for patients who suffer from another kind of leukemia. Photo by Mary Ann Thompson

published on August 22, 2017 – 11:57 AMWritten by Donald A. Promnitz

Valley oncologists and groups devoted to fighting cancer are optimistic about a new leukemia treatment that was recently recommended for approval by the US Food and Drug Administration.

CTL019, a CAR T-cell therapy from the pharmaceutical company Novartis, was recommended unanimously last month, and doctors in the Central Valley have taken notice. One person to welcome the therapy is Saint Agnes Cancer Center oncologist Dr. Ravi Rao who stated that it was a profound development comparable to going to the moon and coming back.

I think its an exceptionally good idea. This is something thats been talked about for many, many decadeseven in the 1960s, 70s scientists were trying to figure out how to get your immune system to wake up and attack the cancer, Rao said. And so finally, the fact that its happened, to me, is like science fiction.

I think its groundbreaking for sure, said Valley Childrens Hospital oncologist and hematologist Dr. Vinod Balasa. If it is approved of by the FDA, it would be the first gene therapy in the United States.

CAR T-cell therapy involves the removal of a patients T cells (an immune cell) and introducing chimeric antigen receptors or CARs to the cell that will cause them to attack their cancer. These modified cells are then reintroduced to the patient. CARs are receptors that have been engineered to graft onto the T cells.

When the CAR T cell is put back in to the patient, it makes the T cells bind to the tumor cells and this in turn activates the T-cell to kill the tumor cell as well as force the T-cell to divide, said Lee Greenberger, the Leukemia & Lymphoma Societys New York-based chief scientific officer. So in essence, a genetically engineered, tumor-killing factory has been created in the patient.

The concept of introducing cells to fight blood cancer dates back to the early 1950s and in the 60s and 70s, researchers conceived the idea of introducing immune cells from donors to kill tumor cells in patients. In the 80s, the receptor was discovered and the first CAR was made.

In the 90s and 2000s, the CAR T cell was further researched and optimized. Dr. Carl H. June pioneered the immunotherapy at the University of Pennsylvania.

It doesnt just come out of the blue, Greenberger said. Theres a lot of manipulation to find out what works.

Over the last two decades, the Leukemia & Lymphoma Society has spent $40 million on CAR T-cell research. This includes $20 million to the University of Pennsylvania.

Currently, CAR T-cell therapy is approved for only one type of cancer B-cell acute lymphoblastic leukemia (ALL). Leukemia is the most common form of cancer in children, with ALL being the most prevalent form. The therapy is intended for use as a last-ditch effort to kill the cancer when all other treatments have failed.

Right now, its approved for just one subtype of leukemia, but the technology is scalable in that it can be scaled to other kinds of cancers, Dr. Rao said. So I think time will tell us how far this will go.

Of 63 patients treated with CAR T-cell therapy in a 2015-16 trial, 82.5 percent went into remission. It is also being tested for treating chronic lymphocytic leukemia and non-Hodgkin lymphoma.

Getting the treatment into the Valley, however, will present its own challenges. While effective against leukemia, the treatment includes a number of adverse side effects, including cytokine-release syndrome (or CRS). CRS occurs when cytokines chemical messengers that stimulate and direct immune response are rapidly released into the bloodstream. High fevers and dangerous falls in blood pressure are the common result.

It really requires a lot of supervision from a highly specialized team at this time, so having this treatment in the Valley is years away, said Bethanie Mills, Leukemia & Lymphoma Societys Central California senior manager of patient access. However, that doesnt mean that our Valley patients would not have access to it.

In order to receive the treatment, a Valley patient would have to be taken to a cancer specialty hospital, where staff would be better equipped to administer the therapy and care for them as it takes effect.

Despite this, Dr. Rao said that he hopes that he will himself be able to use this treatment on his patients in time.

I dont really think we need more staff I think we just need staff to be trained. We already have good cardiologists, good kidney specialists we just need them to be on board, Dr. Rao said. Its a really new branch of medicine. Theres no way people who have been trained in cardiology or infectious diseases they have never seen the kinds of side effects and complications that happen with this. Neither have I for that matter.

Dr. Balasa expressed his own optimism that Valley Childrens Hospital would be able to administer the treatment within a few years.

We already do manage those kinds of problems with other kinds of treatments, Dr. Balasa said, so I feel that being able to treat children with CAR T-cell therapy in the future is more than likely a reality.

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Doctor on new cancer treatment: ‘genetically engineered, tumor-killing factory’ – The Business Journal

New 3D-drug screening aims to ease economic burden of rare muscle diseases – Medical Xpress

Rare muscular diseases cause the gradual decay of the body but new drug screening could lead to better treatments. Credit: ‘Isolated Myofiber’ by Doctor William Roman, Instituto de Medicina Molecular

Rare muscle diseases have a devastating impact on the affected individual and their families, but 3-D-drug screening could lead to better medicines being developed which would also relieve the huge economic toll of their treatment.

Therapy for rare skeletal muscle diseases which cause a gradual decay of the human body and often end in death are scant or non-existent, and in spite of their rarity, these diseases pose a huge socio-economic burden.

‘These are traumatic disorders,’ said Dr William Roman, a cell biologist at the Instituto de Medicina Molecular in Lisbon, Portugal. ‘You go from losing the ability to walk, to losing the ability to eat, to losing the ability to breathe.’

Treatments also require significant resources in terms of carers, expensive equipment and costly medicine, while each patient, and sometimes their family members who become carers, leave the workforce.

Dr Roman says that for many rare skeletal muscle diseases there are no cures and where therapies are available, they offer limited positive outcomes. Part of the reason for this is the lack of a way to find promising drugs.

Dr Roman is a post-doctoral researcher working on MUSCLEGUY, a project funded from the EU’s European Research Council (ERC), which aims to develop reliable and effective laboratory models for testing high-potential drugs for rare muscle disorders. He plans to use a 3-D-system to reveal new disease pathways, which could lead to better treatments being found, much faster than existing methods.

‘There are more or less 30 different types of muscle disorders, and their rarity stems from the fact that they arise from genetic mutation,’ he said. ‘It’s kind of a unique case with every single person, because you have a disease mutation that nobody else has.’

This means that within each category of these muscle diseases there may be many types of different mutations. Dr Roman says that because of this unique situation hardly any new drugs pass regulatory approval and that’s a major deterrent for big pharmaceutical companies to develop drugs in the first place.

‘Because of the plurality of the diseases, you rarely have the right (laboratory) models to test the drugs,’ he said.

The MUSCLEGUY team is currently focusing their method to find potential treatments for centralnuclear myopathy, but they hope their work could extend out to many similar disorders.

‘The idea is that we would use our technology for the initial stages of drug discovery starting with thousands of compounds and work down to the promising ones,’ said Dr Roman.

As well as the laboratory side, the business and commercial aspect is key to the project. Dr Roman added that their approach might provide a ‘better assessment of promising drugs’ and avoid discarding potentially useful drugs too early in drug development, which current testing models sometimes do.

‘We hope that over time if we can get this to be successful that big pharma becomes reinterested in rare diseases,’ said Dr Roman.

Gene therapy

Meanwhile, another EU-funded project known as MYOCURE is focusing directly on possible treatments using gene therapy for two rare diseases: myotubular myopathy (MTM) and glycogen storage disorder type II (GSD II), also known as Pompe’s Disease.

MTM is a devastating disease where the diaphragm stops working, leading to early death it has no cure or treatment. In GSD II, the body is unable to break down the complex sugar glycogen into glucose and this can accumulate in cells particularly muscle cells – which manifests as muscle-wasting. Enzyme replacement therapy (ERT) offers some alleviation of the symptoms for this disease, but it’s very expensive and does not constitute a permanent cure.

Professor Marinee Chuah, project coordinator of MYOCURE, who is at the Free University of Brussels (VUB), Belgium, said: ‘The annual costs for treating GSD II patients with ERT amounts to EUR 0.4 0.7 million per year, per patient, corresponding to an estimated total cost in the EU of EUR 4 7 billion.’

But Prof. Chuah believes that MYOCURE could directly bring down healthcare costs related to ERT, and therefore the knock-on socio-economic burden, and even has hopes their research could lead to a ‘one-time treatment’.

Dr Federico Mingozzi, who heads up one of MYOCURE’s partner teams at the Pierre and Marie Curie University in Paris, France, says their plan is based on replacing the genes that don’t work.

‘The rationale is that there are a number of neuromuscular diseases with high medical need which could be addressed by gene therapy, but the problem is that the treatment itself has several limitations in targeting certain tissues,’ he explained.

MYOCURE’s approach differs from conventional gene therapy in that it aims to be more efficient at targeting specific body tissues where it is needed. For example, MTM gene therapy needs to target the muscle cells of the diaphragm.

To transport desired genes into the cells, gene therapy uses delivery vehicles or ‘vectors’ derived from viruses and MYOCURE aims to optimise this approach using different methods. For example, one strategy being tested is to shuffle the genetic sequences of various viruses to look for the best and most specific vectors.

If successful, Prof. Chuah says that MYOCURE will help some 20 000 patients currently living with MTM or GSD II within the European Union. But crucially, the team hopes that the findings from the project will extend out to many other neuromuscular diseases.

Explore further: What makes cancer gene therapy so groundbreaking?

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New 3D-drug screening aims to ease economic burden of rare muscle diseases – Medical Xpress

DHK – Representative Chris Walsh, 66, non-Hodgkin lymphoma (a white blood cell cancer), Framingham, with Dr … – WEEI.com

Christopher Walsh can still remember the day he found a suspicious lump on his groin. He immediately went to the doctor to have the lump biopsied, and results confirmed that Chris had non-Hodgkin lymphoma. He was diagnosed in June 2015, and immediately decided to go to Dana-Farber because he wanted the best to take care of it. As the cancer began to get a bit more complicated, Dr. Davids started Chris on a clinical trial involving chemotherapy a targeted gene therapy. That treatment has not worked to satisfaction, so Chris is now launching into a newer form of treatment: immunotherapy.

He has been married for almost 33 years and has 2 adult children. He is a state legislator representing the 6th Middlesex district in Framingham. Prior to that, he served as an architect for 30 years.Chris says that one of the things that has been incredible is the community support he has experienced. He had a few reservations about publicly coming out with this cancer, but given his role in the community, he did so and he has found that people appreciate the process and struggles he has endured. He has ultimate confidence in Dana-Farbers continued fight for a cure.

After obtaining an A.B. in chemistry at Harvard College, Dr. Davids completed his M.D. at Yale University School of Medicine. He served as an intern, resident, and assistant chief resident in internal medicine at New York-Presbyterian Weill Cornell Medical Center and Memorial Sloan-Kettering Cancer Center in New York City. He then completed his fellowship in hematology and oncology in Dana-Farber/Partners CancerCare, and a Masters in Medical Science (MMSc) at Harvard Medical School.

He is an attending physician in the Lymphoma Program of the Division of Hematologic Malignancies at Dana-Farber, an Assistant Professor of Medicine at Harvard Medical School, and is the Associate Director of the Dana-Farber CLL Center.

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DHK – Representative Chris Walsh, 66, non-Hodgkin lymphoma (a white blood cell cancer), Framingham, with Dr … – WEEI.com

Life Lessons: Next generation testing – WFMZ Allentown

VIDEO Life Lessons: Next generation…

When Audrey Lapidus 10-month old son, Calvin, didnt reach normal milestones like rolling over or crawling, she knew something was wrong.

He was certainly different from our first child, said Lapidus, of Los Angeles. He had a lot of gastrointestinal issues and we were taking him to the doctor quite a bit.

Four specialists saw Calvin and batteries of tests proved inconclusive. Still, Lapidus persisted.

I was pushing for even more testing, and our geneticist at UCLA said, If you can wait one more month, were going to be launching a brand new test called exome sequencing, she said. We were lucky to be in the right place at the right time and get the information we did.

In 2012, Calvin Lapidus became the first patient to undergo exome sequencing at UCLA. He was subsequently diagnosed with a rare genetic condition known as Pitt-Hopkins Syndrome, which is most commonly characterized by developmental delays, possible breathing problems, seizures and gastrointestinal problems.

Though there is no cure for Pitt-Hopkins, finally having a diagnosis allowed Calvin to begin therapy.

The diagnosis gave us a point to move forward from, rather than just existing in that scary no-mans land where we knew nothing, Lapidus said.

Unfortunately, there are a lot of people living in that no-mans land, desperate for any type of answers to their medical conditions, said Dr. Stanley Nelson, professor of human genetics and pathology and laboratory medicine at the David Geffen School of Medicine at UCLA. Many families suffer for years without so much as a name for their condition.

What exome sequencing allows doctors to do is to analyze more than 20,000 genes at once, with one simple blood test.

In the past, genetic testing was done one gene at a time, which is time-consuming and expensive.

Rather than testing one sequential gene after another, exome sequencing saves time, money and effort, said Dr. Julian Martinez-Agosto, a pediatrician and researcher at the Resnick Neuropsychiatric Hospital at UCLA.

The exome consists of all the genomes exons, which are the coding portion of genes. Clinical exome sequencing is a test for identifying disease-causing DNA variants within the 1 percent of the genome which codes for proteins, the exons, or flanks the regions which code for proteins, called splice junctions.

To date, mutations in the protein-coding parts of genes accounts for nearly 85 percent of all mutations known to cause genetic diseases, so surveying just this portion of the genome is an efficient and powerful diagnostic tool. Exome sequencing can help detect rare disorders like spinocerebellar ataxia, which progressively diminishes a persons movements, and suggest the likelihood of more common conditions like autism spectrum disorder and epilepsy.

More than 4,000 adults and children have undergone exome testing at UCLA since 2012. Of difficult to solve cases, more than 30 percent are solved through this process, which is a dramatic improvement over prior technologies. Thus, Nelson and his team support wider use of genome-sequencing techniques and better insurance coverage, which would further benefit patients and resolve diagnostically difficult cases at much younger ages.

Since her sons diagnosis, Lapidus helped found the Pitt-Hopkins Syndrome Research Foundation. Having Calvins diagnosis gave us a roadmap of where to start, where to go and whats realistic as far as therapies and treatments, she said. None of that would have been possible without that test.

Next, experts at UCLA are testing the relative merits of broader whole genome sequencing to analyze all 6 billion bases that make up a persons genome. The team is exploring integration of this DNA sequencing with state-of-the-art RNA or gene expression analysis to improve the diagnostic rate.

The entire human genome was first sequenced in 1990 at a cost of $2.7 billion. Today, doctors can perform the same test at a tiny fraction of that cost, and believe that sequencing whole genomes of individuals could vastly improve disease diagnoses and medical care.

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Life Lessons: Next generation testing – WFMZ Allentown

Potential therapy for eye condition – WTAJ

Imagine only being able to see the things in front of you in soft focus, and just in black and white. For people with the genetic eye condition achromatopsia those are just some of the side effects. But, researchers are testing a new treatment designed to cure the condition by fixing the gene responsible.

Each time Tara Cataldo prepares to leave her house, she has to make sure her face is completely shielded from the sun.

“I need to have very dark, very tinted sunglasses to feel comfortable outside and to see really well.” Tara said.

Tara has achromatopsia, a genetic condition that makes her eyes incredibly sensitive to light. She is also very nearsighted; even while wearing glasses or contacts, she can only see clearly at a very short distance.

“I cannot drive a car so I rely on public transportation and my bike to get around.” she explained.

Christine Kay, MD, a surgical ophthalmologist at the University of Florida said, “There are currently no approved and no effective treatments for achromatopsia.”

Surgical ophthalmologist Christine Kay is working to change that. She is one of a handful of experts testing a gene therapy

“For achromatopsia the cells we have to target are cone cells responsible for decreased vision and color vision and those are cells at the very bottom layer of the retina.” Dr. Kay explained.

Using a tiny cannula, surgeons deliver a normal copy of one of two mutated genes; the CNGA3 or CNGB3 gene, directly into the eye restoring vision.

Tara’s myopia is so severe that her risk of retinal detachment from any retinal surgery is high, which rules her out for the current trial. In the meantime, Tara says she’s learned to adapt to achromatopsia and live without limitations.

“And I hope all young achromats learn the same thing,” Cataldo said.

Doctor Kay says if the gene could eventually be delivered to the surface of the retina; additional patients, like Tara, could be treated. The biotech company that developed the therapies and several U.S. universities have successfully tested this therapy in dogs and sheep.

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Potential therapy for eye condition – WTAJ

Exclusive interview with Discovery’s First in Human sickle cell … – Monsters and Critics.com

NIH research Dr. John Tisdale has effectively created a cure for sickle cell disease

When people fall ill, sometimes there is no hope. In some cases, there is an avenue of last chance to explore, this is the world of First In Human on Discovery.

Narrated by Jim Parsons, this groundbreaking three part event unfolds at the famous National Institutes of Health Building 10.

Building 10 is the largest research hospital in the country where select patients often deemed incurable and near death, with no alternatives go to be first in clinical trials for cutting edge therapies and medicines.

This is the hardest thing to do in medical research, as some treatments may wind up killing the patient.

Discoverys cameras were given unprecedented access for the first time inside this institution.

These true and gripping accounts of medical miracles are told incrementally in the three episodes. The NIH took the risk with Discovery to let them film stories and meet the doctors who have changed lives.

Their decision was based on the exemplary work of John Hoffman, the Director and EVP of Documentaries and Specials at Discovery.

Hoffman was given access worked with NIH doctors Dr. John Tisdale and Dr. Terry Fry and their respective patients, Deidra Williams and Carla and Robert Cooper among others.

This televised event takes viewers inside the crucial beginning phase of scientific research following four patients as they participate in first in human trials, the initial time a new therapy is tested in humans, revealing the character and inner strength of both the doctors and their hopeful patients.

At the recent television critics association summer press tour, we spoke with all of them about their monumental achievements and setbacks as well.

Our exclusive interview below is with Dr. John Tisdale, whose revolutionary work to cure sickle cell disease is nothing short of astounding in results.

He was accompanied by his patient, Deidra Williams, who suffered her entire life and was resigned to an early death (the average life span is 42 years). Dr. Tisdales bone marrow treatment saved her life.

Deidra recounts the pain of living with sickle cell disease

We interviewed Dr. Tisdale and Deidra together:

Monsters and Critics: How did you find Dr. Tisdale to help you, Deidra?

Deidra: I applied for the clinical trial at the NIH, and when I was accepted in thats when I met Dr. Tisdale.

M&C: How many cases do you review, Dr. Tisdale, that you see these applications? And how do you pick the people that you want to work with?

Dr. John Tisdale: We have two or three new patients that come to our clinic with sickle cell disease a week. Some of them are just interested in finding out more about their disease and may be contributing research samples for studies that we do in the lab. And some are interested in getting treatment recommendations, the one drug that we have, Hydroxyurea. And some are interested in pursuing curative therapies and are coming to see if theyre eligible for one of the clinical trials that we have open.

The way the process works is that if its the latter, we start off by determining whether its an option for them, whether their disease is severe enough. Almost every adult, it is, unfortunately. The next step is what type of curative transplant might they be eligible for.

The kind that she got was from her sister. And so, the first screen is, do you have a brother or sister thats a match that doesnt have sickle cell disease? If thats the case, then they can go into this protocol. If they dont, then we have two other experimental transplant protocols, where were testing either a half match, which almost everyone has. A parent or a child is a half match.

Or whats called Gene Therapy, where instead we take the patients own bone marrow, try to correct it, and give it back. And so, each of those protocols have a little bit different eligibility criteria that relate to whats being done to get them ready.

In her [Deidra] case, its a pretty benign prep to get the transplant. So virtually anyone with sickle cell disease would be eligible to have it done.

The other two are a little more involved, so not everyone is eligible because they have to have good kidney function, good lung function, and that sort of thing. So thats sort of how the process works.

Dr. Tisdales therapy was so successful it is being rolled out to other hospitals

M&C: Deidra, how did you feel when you got accepted into this program to be helped?

Deidra: I was excited. I was scared. And I was just doing my best not to get my hopes up high because I was living with a disease at that time that there was no cure. Sickle cell was not curable, so for me to be taking this step I had to kind of hold it in. Because you just dont want to be disappointed. But I knew that it was I just felt pulled to do it.

M&C: For people who dont know, whats living with sickle cell like?

Deidra: It is very painful. All over your body. For me, it was all over. Mainly in my joints and its just very exhausting mentally because you are always in pain. And its hard. You feel like youre trapped in your body, because what your mind says you can do and your body says and does something totally different.

Its just a very debilitating disease, and a misunderstood disease, with a lot of different misconceptions. Usually, people with sickle cell disease are very strong people. And you have to be to deal with that kind of pain from birth.

M&C: Wow. How do you feel now?

Deidra: I feel good.

M&C: When did you feel a change when you started this therapy? When did you feel a change in your overall?

Deidra: It was not like a flick of a light switch. This was an ongoing, as each day progressed, youll feel a little better and a little better and a little better. I am a little under two years And I am still starting to still feel a little bit more I dont know to say normal, but you find its a progression, the things you couldnt do, you can now do again. Maybe its walking around the block that used to trigger a crisis. Youre waiting on something to happen but it doesnt happen. Or being outside and it gets really cold, and again, youre waiting on that pain to be triggered to happen, and it doesnt happen. And youre like, Oh yeah, Im okay.

Its been a progression of clarity. And what I mean by mental clarity, because people with sickle cell, more than likely, theyre dealing with a lot of narcotics to control the pain. Once that was taken care of When youre able to lift that, just little by little. It all starts-

Dr. John Tisdale: Making more clear what its really like because you say youre in pain, you have chronic pain, lots of people have chronic pain. What happens is, the red cells that normally squeeze through the circulation, in sickle cell disease, once they let go of oxygen, the hemoglobin inside gets hard and rigid, and the red cell then becomes very rigid and cant pass through the circulation. Everything clogs up. And if it happens here, theres no blood supply to your leg.

Or if it happens in the bone, theres no blood supply to your bone, for a long time. And that damages organs. If it happens in the brain, you have a stroke. And kids with sickle cell disease have strokes and bone damage

M&C: Is it like a necropsy?

Dr. John Tisdale: Yes, necrosis. Its an intense pain.

Deidra: Yes it is.

Dr. John Tisdale: That no one else can even imagine. And it requires high doses of narcotics, in the hospital sometimes for days, sometimes for weeks. It appears out of the blue. Youre going along with life, and then the next thing youre in the hospital for two weeks on heavy doses of narcotics. And this happens over and over and over. So you cant plan life, you cant plan family things, you cant study, you cant finish school, youre in pain all the time.

You wind up on narcotics at really high doses that control the pain, but most of the time not adequately. What weve noticed actually, is it takes some time after being on pain medications for the pain wires to kind of reset in the brain.

Part of the reason why it takes some time for you to feel completely better. Even when the sickle cell is completely gone.

Deidra: Thats so right. And everything that hes saying, its just so accurate. It would get in the way of everything. The countless times where I was in school and you know, pneumonia, something happens, something just takes you out. And it got to a point to where you dont know what crisis going to be that crisis. And it just takes you out. Is it going to be my heart? Is it going to be a stroke? What is it? You pray when you go into the ER that youre going to come back out. And I did that, I had small children, and every day that was a fear. That was a fear. And now, again, just being able to think clearly, being able to think clearly and to move and not having the fear that its Oh, am I getting sick? Its just so much.

M&C: When you found out that they were doing a television show, and that you were going to be part of it, how did that process unfold to you? Youre doing your job as a doctor and youre a researcher and youre helping people with this particular blood disease, and then all of a sudden cameras are in your orbit. Tell me about that.

Dr. John Tisdale: I have to say, at first I was a little reluctant. Im sort of camera shy and dont like to be the center of attention, and certainly didnt want a bunch of film crew following me around every day. So, there was that. But we met with the people from the Discovery Channel and I was really impressed that they were in this for the right reasons, and they were really wanting to promote the kind of work that we do. I felt like I had to do it because people just dont know about sickle cell disease.

Its actually the first disease that we discovered the molecular defect, we scientistsAnd despite that, we really have nothing. And theres very little awareness of the disease. Patients with the disease are often mistreated because the one thing that we can do for them is give them narcotics. So, you show up in the emergency room and you want narcotics.

People are like, Theyre drug seeking. Its a disease thats underappreciated, misunderstood, and I felt like I had to do it.

M&C: How many years have you been researching this disease?

Dr. John Tisdale: More than 20 years at the National Institute of Health in Bethesda, Maryland the Intramural Clinical Research Program.

M&C: Deidra, talk about the frustrating thing about sickle cell, you dont look like theres anything wrong, and yet theres so much going on

Deidra: A lot of people say that [about looking good]. And thats another misconception.

Dr. John Tisdale: You look great and youre so sick.

Deidra: Its on the inside. Its not something that you can physically see.

M&C: Anyone else in your family with it?

Deidra: Yeah, I do. I have an uncle with sickle cell disease.

M&C: So he understood your suffering?

Deidra: He understood completely.

M&C: Did you have any pushback from your family that maybe thought you were putting it on, or playing up your pain?

Deidra: You have some members of the family like that. Like they think you can fix it by drinking water. Not my mother. My mothers a nurse for over 30 years. She definitely knew.

Deidra the moment she learned she was free of the disease

M&C: Im glad youre well.

Deidra: Thank you.

First in Human: The Trials of Building 10 airs Thursdays at 9/8c on Discovery.

Read the rest here:
Exclusive interview with Discovery’s First in Human sickle cell … – Monsters and Critics.com

Families with kids with Jordan’s Syndrome meet for study to learn more about rare gene mutation – FOX 5 DC

CHANTILLY, Va. – Families from around the world who have children with a rare gene mutation came to Washington D.C. to participate in a study that could lead to a medical breakthrough.

These families may be from all over, but there is a rare genetic link that brings them all together.

FOX 5 first brought you the story of Shelby and Greg Butler and their 12-year-old daughter Ella with special needs. She was recently diagnosed with a rare gene mutation called PPP2R5D.

Research suggests the mutation is involved in autism, Alzheimers and even cancer, but it still remains much of a mystery. Up until now, around 30 families whose child is diagnosed with it have only spoken on Facebook with each other.

That has been so overwhelming to see these kids that are so similar to her, said Shelby Butler.

Recently, the gene mutation was named Jordan’s Syndrome after the daughter of Joe and Cynthia Lang from California.

Had you told Cynthia and I that a year ago we were going to be doing something like this, we would have said no way, said Joe.

They have made it their mission to gather the country’s top researchers to take a deeper and wider look at Jordan’s Syndrome. Lab work for the study is currently underway at the GeneDx genetics lab in Gaithersburg, Maryland.

Historically this type of research would have taken decades maybe to do, and with the rate of science being so quick right now in terms of breakthroughs and discoveries, with gene therapy and other things, we are trying to basically take advantage of that, said Megan Cho, the research program manager at GeneDx.

Families like the Butlers hope others will take advantage of getting tested.

A big takeaway from all this is it gives us hope, said Greg Butler. Gives us hope for Ella, and really, I think it gives hope for a whole lot of other people like Ella who are younger and maybe who have not gotten a diagnosis yet.

If you would like more information about how to get tested for Jordans Syndrome, ask your doctor or geneticist about taking an exome sequencing test.

It is expensive but some insurance companies may cover it. It may also be offered for free through other medical studies.

Original post:
Families with kids with Jordan’s Syndrome meet for study to learn more about rare gene mutation – FOX 5 DC

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

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 – KRCU

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.”

Original post:
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?

Makeit easy to keep up-to-date with more stories like this.Download the 10 Newsapp now.

Have a news tip? Email tips@wtsp.com, visit ourFacebook pageorTwitter feed.

2017 WTSP-TV

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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

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