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Breaking the mold: A doctor’s illness journey changes her practice – Peninsula Press

Ten years ago, a young woman came to Dr. Cynthia Li, seeking treatment for fungal overgrowth causing chronic fatigue and digestive disorders. Drawing on years of internal medicine training, Li dismissed the patients self-diagnosis. I thought it was probably some quackery she found on the internet, she recalled. Little did Li realize that she, too, would soon turn to alternative solutions for her own mysterious medical condition, in a development that would change her approach to life and to medicine.

(Photo courtesy of Cynthia Li)

Up until her thirties, Li was living every well-intentioned doctors dream. She worked at the San Francisco General Hospital and taught UCSF medical residents, volunteered with Doctors Without Borders at an HIV/AIDS clinic in rural China, lived in a classic Victorian-style house in San Francisco, exercised regularly and ate a mostly vegetarian, organic low-fat diet.

Not until the spring of 2007 as she was being rushed to the hospital, heart rate over 200, delirious and slipping out of consciousness, did she realize she was spiraling into an inexplicable chronic health crisis.

Li had experienced severe fatigue and dizziness after her first pregnancy, but brushed it off because she felt well enough. This time in 2007, while visiting her family in Beijing, she experienced the perfect storm pollution exposure, stomach flu, unusual foods and a second pregnancy left her bedbound for six months after the emergency room visit and another two years housebound. Having endured 36-hour shifts, Li was no stranger to fatigue, but what she felt now was a completely different animal. I couldnt move my muscles and didnt feel like I had the energy to draw my next breath, she said.

Her primary care doctor, endocrinologist and psychiatrist shuffled her around in a referral merry-go-round. Screening tests including the thyroid-stimulating hormone, TSH, were normal. No sign of depression or mental health disorders. She had become one of the invalids those with a medical case that went unrecognized and deemed incurable.

Growing up, Li was not one to deviate much from the norm. Her parents emigrated from Taiwan and held a high regard for authority. She lived her life by the book went to church on Sundays and always turned in her schoolwork on time. In her third year of medical school, she shoved a nasogastric tube down the nose of an unwilling patient because a resident told her to. She attributed repeated instances like this to unknowingly stifling her curiosity and will to question what happens in medicine and why.

It came as a shock, then, when she violated medical norm and became the difficult patient. Desperate but still skeptical of alternative treatments, she began with acupuncture, and then slowly integrated other paradigms like environmental health (how pollutants and chemicals disrupt hormone function) and ancestral health (how an evolutionary perspective helps define diet and lifestyle) into her personal healing routine.

She understood diets had to be personalized there is no one-size-fits-all perfect diet and ditched vegetarianism for more nutrient-dense foods like bone broth soup, learned to rewire her brain and dampen inflammatory stress responses through a technique called neural retraining, took up Qigong practice, and supplemented with things ranging from amino acids like L-glutamine for repairing the gut lining to vitamin B-complex with active folate and B12 for healthy detoxification support.

Li, 46, eventually diagnosed and slowly healed herself from autoimmune thyroiditis, multiple food sensitivities and chronic fatigue syndrome. Her personal health journey profoundly changed the way she now practices medicine. In 2012, she opened her own practice in Berkeley, based on an approach known as functional medicine, which seeks to find root causes and mechanisms for chronic disease instead of ruling out and reducing problems.

Cynthia Li (Photo courtesy of Cynthia Li)

Matthew Sades son was one patient who walked through Lis door last year. When the 8-year-old boys eyebrows and eyelashes began to fall out, their pediatric dermatologist diagnosed him with alopecia areata, an autoimmune disease that causes excessive hair loss. Treatment included monthly injections of steroids in his scalp and daily topical creams. It was labor intensive and after three to four months of very minimal progress, Sade decided to take his son to see Li.

Li ordered a battery of stool, urine and blood tests and found that his sons gut flora the microorganisms that resided in his gut was out of balance. She prescribed a cocktail of probiotics and prebiotics to restore the dysbiosis, and vitamins and minerals to support his immune function. In addition, his celiac panel testing for gluten sensitivity turned up positive, and Li provided articles citing an increased incidence of alopecia in celiac patients. Sades son remains gluten-free today.

Sade, CEO of natural food company Kite Hill, admits that conclusions can never be definitive, but says that for his son, the results were significant. Four weeks into the new regimen and boom, it was just like night and day. His hair grew back like it had never happened, Sade said.

Hes a big believer in Lis work and has referred a half a dozen people to her this past year whom he felt, much like his son, were not getting the answers and relief they needed from their conventional Western medicine practitioners.

Not everyone is enamored by Lis less-than-standard method of care. When Sade shared the good news of his son with a physician at UCSF Benioff Childrens Hospital Oakland, she replied that this was a new body of medicine with insufficient research to speak to it.

It was a little bit disappointing because it felt there was this undertone of adversity to the possibility that there are other practices that could be yielding different and potentially better outcomes, Sade said.

Cynthia Li traveling with her husband in South Africa, while still in her prime. Her life would soon change as her health took a turn for the worst. (Photo courtesy of Cynthia Li)

Christopher Gardner, professor of medicine and director of nutrition studies at the Stanford Prevention Research Center, said what functional medicine practitioners do is plausible and makes sense and may work well for some. (EDITORS NOTE: Peninsula Press is a project of the Stanford Journalism Program and not affiliated with Stanford Medicine.) However, his impression is that they believe in a lot of non-standard diagnostic tests, many of which are related to the gastrointestinal tract and system, which have limited scientific evidence to either support or refute their claims.

More outspoken critics include Wallace Sampson, the late oncologist and emeritus professor of clinical medicine at Stanford University, who wrote that functional medicine is nothing more than a treatment of phantom diseases and a non-scientific, ineffective, jingoistic, cultic approach to dysfunctional somatoform, non-disease conditions.

Li is undeterred by the naysayers. She said that functional medicine does not replace her medical training but instead enhances it. In addition, in randomized controlled trials, people become statistics. The idea that this gold standard of research always produces the best evidence-based medicine is limiting, she claims. Standard practice has been proven ineffective time and time again and off-label uses of drugs are often prescribed. Conversely, functional medicine is not without the more out there practitioners. Integrative medicine people can be equally dogmatic, Li said, chuckling.

While sitting at a bustling Berkeley brunch spot picking at her fruit salad, Li articulated a keen awareness and respect for the complexity of the human body, while remaining pragmatic and skeptical throughout the conversation. Of course, she would research each of her patients cases thoroughly, scouring PubMed articles and natural supplement databases, but her humility stood out the most. The most valuable thing that I learned in my health journey was to come to the place of not knowing, she said.

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Breaking the mold: A doctor’s illness journey changes her practice – Peninsula Press

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Haqqani: Cardiovascular health in women Part two – Midland Daily News

Dr. Omar P. Haqqanifor the Daily News

Dr. Omar P. Haqqani

Dr. Omar P. Haqqani

Haqqani:Cardiovascular health in women Part two

In part 1 of our series addressing cardiovascular health in women, we discussed the three most significant risk factors in developing cardiovascular disease. This week, we focus on the two deadliest cardiovascular events that can result from CVD, which are heart attacks and strokes.

Heart Attacks

Heart attacks are often viewed as something that primarily strike men; however, nearly a quarter million women a year die from them. That is 5 times higher than the number of deaths resulting from breast cancer.

In order to reduce occurrences of this cardiac event, women should be aware that a heart attack does not always feel the same in females as it does in men. The typical heart attack signs — severe chest pain radiating down one arm or extreme shortness of breath — can certainly occur in women, but many times, their symptoms are much more subtle.

They include:

Chest pain or discomfort that feels more like a fullness or squeezing throughout the chest rather than sharp, severe pain on the left side.

Pain in your back, neck or jaw that can build gradually and that can come and go.

Stomach pain and abdominal pressure that may be mistaken for heartburn.

Shortness of breath, nausea or lightheadedness for no apparent reason.

Sweating suddenly even though you have not exerted yourself.

Fatigue after engaging in activities as simple as walking up the stairs.

If you have any of these symptoms, do not ignore them. Get medical attention immediately and, rather than driving yourself to the hospital or asking a friend or family member to do so, call 911 so first responders can manage the event. Acting quickly can save your life and decrease the damage done to your heart.

To reduce your overall risk of a heart attack, make heart-smart lifestyle choices including getting regular exercise, not smoking, maintaining a healthy weight and eating a healthy diet. It is also very important to keep your blood pressure under control and manage your blood sugar if you are diabetic.


Stroke is another cardiovascular event that is a leading cause of death in women. In addition, because women live longer than men, the long-term effects of a stroke can have a much more negative impact on their lives. Once again, there are risk factors, warning signs and symptoms that are unique to women.

The typical risk factors for stroke — being overweight, high blood pressure, an inactive lifestyle, smoking and diabetes — apply equally to both sexes. But there are others that occur only in women such as pregnancy, using birth control pills or taking hormone replacement medications. Women who are in their child-bearing years or who are post-menopausal must be alert to the increased chances of having a stroke and be vigilant about monitoring symptoms.

Women will experience different symptoms than men when having a stroke. These include fainting, dizziness, hallucinations, nausea or vomiting, and frequent hiccups. Women may also feel numbness over their entire body rather than in a localized area. If you experience any of these symptoms, call 911 immediately, particularly if you have difficulty speaking or see drooping in your face. Just like with heart attacks, it is imperative you act quickly to minimize stroke damage.

To reduce your risk of a stroke, stop smoking immediately and work toward reaching and maintaining a healthy body weight. If you are pregnant, monitor your blood pressure carefully throughout your pregnancy. Monitor it closely as well if you are on birth control pills or hormone replacement therapy drugs and see your physician immediately if it rises.

While heart attacks and strokes are real dangers for women because the signs and symptoms are very different than those experienced by men, you can reduce your chances of having either by making important lifestyle changes, being alert to the signs and reacting quickly if symptoms appear.

Next week, part three of our series on cardiovascular health in women will specifically address how ethnicity plays a role in cardiovascular disease and cardiovascular events.

Dr. Omar P. Haqqani is the chief of Vascular and Endovascular Surgery at Vascular Health Clinics in Midland.

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Haqqani: Cardiovascular health in women Part two – Midland Daily News

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Dairy cow genetics in the spotlight – The Australian Dairyfarmer

The rising popularity of genomic (DNA) testing of female dairy cattle means DataGene’s release of Australian Breeding Values (ABVs) puts the spotlight on the top herds and cows, as well as bulls.

DataGene’s genetic evaluation manager, Michelle Axford, said the August ABV release saw more herds competing for the top genomic females lists than in the past.

When genomic testing first became available to Australian dairyfarmers in 2011, a few leading dairy breeders tested a limited number of females. So, the list of top females was dominated by these herds.

With many dairy herds now routinely testing each heifer drop, the number of genetic tests ordered in the past year has increased by about 40 per cent. There are now 66,355 females with genotypes.

“August’s top genomic female lists reflect this,” she said. “For example, the Holstein top females list has an increase of 50 per cent herds contributing top females compared to the April 2017 ABV release.”

Australia’s top genomically tested Holstein cow is Glomar Goldwyn Lucky 4319, bred by the Johnston family of Sale, Victoria, with a Balanced Performance Index (BPI) of 399.

The BPI accounts for the traits that affect profit, production and longevity in the herd. A BPI of zero represents the average of mature, Australian cows, so at 399, Glomar Lucky has the genetic potential to contribute an extra $399 a year in profit.

There’s stiff competition vying for other places in the Holstein Top 10 females. Several leading breeders have strong contenders: the Ireland (Redmaw, Lockington, Vic), Lillicos (Hindlee, Smithton, Tasmania) and Lister (Calister, Calivil, Vic) families.

At a herd level, Trevor and Leah Parrish, Kangaroo Valley, NSW, continue to hold the position of top Holstein herd with an average BPI of 144. They are followed by Daryl Hoey (Beaulah Park, Katunga, Vic), Hogg family (Adlejama, Biggara, Vic) and Kitchen family (Carenda, Boyanup, WA).

Australia’s top genomically tested Jersey cow is Kings Ville SCD Belle 78, with a BPI of 337, bred by Rob and Kerrie Anderson, Drouin West, Victoria.

First place for Jersey herds is shared by Daryl Hoey (Beaulah Park, Katunga, Vic) and Con Glennen (White Star, Noorat, Vic) with an average BPI of 118.

In the Red Breeds, the Graham family (Beaulands, Nowra, NSW) continues to hold the top spot with an average BPI of 107.

Mrs Axford congratulated all the breeders involved, recognising that their achievements were the result of many years of focused breeding decisions.

“Every joining is an opportunity to improve the genetic merit of your herd,” she said. “The impact of each joining decision is permanent and compounding. Each of these farmers have demonstrated what can be achieved by making every joining decision count.”

Mrs Axford said the easiest way to improve the genetic merit of a dairy herd was to always use bulls that carry the Good Bulls icon.

There are plenty of bulls to choose from that carry the Good Bulls icon. Bulls that meet the Good Bulls criteria in the August ABV release include more than 900 Holsteins, 135 Jerseys, 20 Red Breeds, 12 Guernseys and 40 Brown Swiss.

To qualify for Good Bulls status, a bull must meet the minimum requirements for Balanced Performance Index (BPI) and reliability and be available for purchase.D

Look up Good Bulls using the Good Bulls App or by visiting website

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Dairy cow genetics in the spotlight – The Australian Dairyfarmer

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Wheat center looking to grow ‘gluten safe’ varieties, isolate other sought-after qualities – Topeka Capital Journal

MANHATTAN Research at the Kansas Wheat Innovation Center could revolutionize farming not just in Kansas but around the world.

Scientists there use advanced breeding techniques to isolate sought-after qualities. Different than genetic modification, breeding selects wheat varieties that need less water, can grow in extreme heat, or are durable against disease and pests in process that can take nearly a decade. Researchers at the Kansas Wheat Innovation Center hope to reduce that time so farmers can grow better wheat, faster, said Aaron Harries, vice president of research and operations.

This year, the wheat streak mosaic virus ravaged wheat crops in western Kansas. A tiny mite that remained active during an unusually warm winter spread the disease over a larger area than before. Within a few years, a variety of wheat resistant to the virus will be in the hands of farmers, Harries said.

But even as researchers develop tougher wheats, Mother Nature catches up. Disease evolves and climates change.

Were always striving to improve the yield, he said.

This year, a consortium of international geneticists will likely finish sequencing wheats genome.

Aaron Harries talks about the Kansas Wheat Innovation Center in Manhattan and the Research that is underway that could revolutionize farming not just in Kansas but across the world.

Similar to the Human Genome Project that mapped human genetics, the project, which began in part with the centers research, will lay out the fundamentals of the wheat gene so scientists can more easily identify desirable traits.

Its not just farmers that benefit from Kansas Wheat research. Varieties are being developed that are naturally sweeter, so bakers and food companies can use less sugar to sweeten doughs.

Researchers are also talking to the growing number of people who have celiac disease. Those with the condition are unable to digest gluten, a protein found in wheat, barley and rye. With clues unlocked in the wheat genome, the institute hopes to locate the specific portions of the protein that cause the reaction and breed it out or silence it, Harries said.

Thats the protein that makes bread rise, so were not trying to make it gluten free, he said. Were trying to make it celiac safe.

To find the wheat qualities farmers and consumers want, researchers not only turn to wheat currently being grown, but they also have a store of ancient grains the wild grass varieties bred together to form modern wheat. Scientists collected the grains from places such as Syria, Iraq and Israel.

We go treasure hunting for traits from those relatives and cross them into modern bread wheat, Harries said.

With all these different types of wheat on the market, Harries said the Kansas Wheat Innovation Center sees a revolution coming in the way wheat is grown, sold and processed. Currently, farmers growing consumer grain sell it to the elevator at harvest, which turns it over to a company in the food industry.

In future, farmers may contract directly with a certain company to grow a specific type of wheat.

A farmer with 100 acres may grow 50 acres of consumer wheat, 25 acres of sweet wheat and 25 acres of celiac-safe wheat, Harries said.

Ultimately that will change the way we grow wheat. he said.

Advanced research

These advances in wheat are years away, but they begin in tiny pots in the institutes more than 35,000-square-foot, $11 million facility. Thats where Heartland Plant Innovations research associate Tyler Suelter and a team breed new wheat varieties using a doubled haploid technique that can shave years off the breeding process.

Suelter said it sounds complex, but its really an acceleration of traditional breeding.

The process involves producing plants that have all the same genetics. When a variety is identified, scientists emasculate the plants, leaving only the female reproductive system.

Maize is used to pollinate the plant so an embryo is produced. Since the embryo wasnt pollinated with wheat, it has half the number of chromosomes. Breeders will later double the count, so the plant has two copies of identical chromosomes a process that takes generations with typical breeding.

The research has produced nearly 100,000 doubled haploid variations and reduces the amount of time it takes to breed a new wheat variety.

The time savings comes from how long it takes to grow the plants out. With (traditional breeding), you grow out several generations, and each takes six months, Suelter said. With doubled haploid, you basically fix those traits in a single generation.

Kansas Wheat by the numbers

$11 million facility completed in 2012.

15,000 square feet of research laboratories, including 13 growing chambers

10,000 square feet of greenhouses

2,500 wheat species in gene bank

85 percent funded by Kansas farmers

About $1.5 million annually spent on research at Kansas State University

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Wheat center looking to grow ‘gluten safe’ varieties, isolate other sought-after qualities – Topeka Capital Journal

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For Immune System Stem Cell Studies, Mice Aren’t Enough – Science 2.0

If mouse studies were transferable to humans, we’d have cured every disease thousands of times. That is the big reason why you shouldn’t accept scaremongering about the chemical of the week in the New York Times, or claims about Miracle Vegetables in the Washington Post.

Stem cell therapy is all the rage, with suspect companies sprouting up like supplement stores, claiming to be a benefit for this and that. Often all they have are mouse studies and FDA disclaimers on their side. That’s not to say mouse studies are not valuable, they eliminate a lot of bad products, and in some instances mouse models are good analogues of humans, like in HIV infection, but a new paper reveals what chemists have long known: When it comes to the immune system rats are not little people, even “humanized” mice whichhave been engineered to have a human, rather than a murine, immune system.

These animals have been used for decades to study things like the immune response to the transplantation of pancreatic islet cells for diabetes and skin grafts for burn victims. But unlike what would occur in a human patient, the humanized mice are unable to robustly reject the transplantation of genetically mismatched human stem cells. As a result, they can’t be used to study the immunosuppressive drugs that patients will likely require after transplant. The researchers conclude that the humanized mouse model is not suitable for studying the human immune response to transplanted stem cells or cells derived from them.

“In an ideal situation, these humanized mice would reject foreign stem cells just as a human patient would,” said Joseph Wu, MD, PhD, director of Stanford University School of Medicine’s Cardiovascular Institute and professor of cardiovascular medicine and of radiology. “We could then test a variety of immunosuppressive drugs to learn which might work best in patients, or to screen for new drugs that could inhibit this rejection. We can’t do that with these animals.”

The researchers write in Cell Reports that they were studying pluripotent stem cells, which can become any tissue in the body. They tested the animals’ immune response to human embryonic stem cells, which are naturally pluripotent, and to induced pluripotent stem cells. Although iPS cells can be made from a patient’s own tissues, future clinical applications will likely rely on pre-screened, FDA-approved banks of stem cell-derived products developed for specific clinical situations, such as heart muscle cells to repair tissue damaged by a heart attack, or endothelial cells to stimulate new blood vessel growth. Unlike patient-specific iPS cells, these cells would be reliable and immediately available for clinical use. But because they won’t genetically match each patient, it’s likely that they would be rejected without giving the recipients immunosuppressive drugs.

The authors found that two varieties of humanized mice were unable to completely reject unrelated human embryonic stem cells or iPS cells, despite the fact that some human immune cells homed to and were active in the transplanted stem cell grafts. In some cases, the cells not only thrived, but grew rapidly to form cancers called teratomas. In contrast, mice with unaltered immune systems quickly dispatched both forms of human pluripotent stem cells.

The researchers obtained similar results when they transplanted endothelial cells derived from the pluripotent stem cells.

A new mouse model

To understand more about what was happening, they created a new mouse model similar to the humanized mice. Instead of reconstituting the animals’ nonexistent immune systems with human cells, however, they used immune and bone marrow cells from a different strain of mice. They then performed the same set of experiments again.

Unlike the humanized mice, these new mice robustly rejected human pluripotent stem cells as well as mouse stem cells from a genetically mismatched strain of mice. In other words, their newly acquired immune systems appeared to be in much better working order.

Although more research needs to be done to identify the cause of the discrepancy between the two types of animals, the researchers speculate it may have something to do with the complexity of the immune system and the need to further optimize the humanized mouse model to perhaps include other types of cells or signaling molecules. In the meantime, they are warning other researchers of potential pitfalls in using this model to screen for immunosuppressive drugs that could be effective after human stem cell transplants.

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For Immune System Stem Cell Studies, Mice Aren’t Enough – Science 2.0

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Bowl-A-Thon For Stem Cell Bone Marrow Transplant Recipients –

Madalayna and Tamara Ducharme, 33 days after Madalayna received her bone marrow transplant. Photo provided by Tamara Ducharme) By Adelle LoiselleAugust 25, 2017 5:10am

Six months ago, Windsor residents came out in droves to help baby Madalayna Ducharme find a bone marrow match.

On Saturday, they can help again by taking part in a bowl-a-thon dedicated to supporting the families of those who still need a transplant.

The 12th annual Bowling for Bone Marrow Bowl-a-Thon takes place Saturday at Rose Bowl Lanes on Dougall Ave. in Windsor. Check-in is at noon, and the fundraiser gets underway at 1pm.

It is the Katelyn Bedard Bone Marrow Associations biggest fundraiser of the year, and this year it can count Madalayna among its success stories.

The baby girl, who celebrated her first birthday this week, likes to dance and can stand while holding her parents fingers. Her mother, Tamara Ducharme is grateful for every day.

We were unsure if we were going to make it there, to the first birthday, she says. Were hoping that shell be a healthy little girl.

However, the struggle is not over. Friday, the family is driving up Hwy. 401 for Madalaynas six-month post-transplant appointment at Sick Kids Hospital in Toronto.

Ducharme says her daughter has bi-weekly hospital visits to ensure her medication is up to date. Madalayna still uses a feeding tube, and even months later, there is still the question whether the bone marrow transplant from her brother is working.

Theyll probably do an x-ray, says Ducharme about the upcoming appointment. Shes had a little growth. If her bones show changes that means shes on the track of getting better. Now, if there is no change, I dont know what were going to do.

Life with a young child who has received a transplant can also be very isolating, and Ducharme admits it has not been easy.

Were bubbled. We really go anywhere. We dont really play with other kids, she says. Youve gotta take the proper steps to take care of your child. If she could catch anything and it could be really detrimental.

She says the association has been very good to her family and they are grateful for their, and the communitys support over a challenging chapter in their lives.

Bryan and Joanne Bedard understand the difficulties faced by families of children waiting for a donor. They lost their 3-year-old daughter, Katelyn, in 2005 when they were unable to find one.

Since then, they have raised money for donor clinics and awareness of the OneMatch Stem Cell and Marrow Network which now has 6,500 registered donors. The Katelyn Bedard Bone Marrow Association has also donated $115,000 to stem cell and bone marrow transplant research at both the University of Windsor and the Universite de Montreal.

With files from Maureen Revait

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Bowl-A-Thon For Stem Cell Bone Marrow Transplant Recipients –

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Bacterial infection stresses hematopoietic stem cells – Medical Xpress

Bacterial infection activates hematopoietic stem cells in the bone marrow and significantly reduces the ability to produce blood through induced proliferation. Credit: Professor Hitoshi Takizawa

It has been thought that only immune cells would act as the line of defense during bacterial infection. However, recent research has revealed that hematopoietic stem cells, cells that create all other blood cells throughout an individual’s lifetime, are also able to respond to the infection. A collaboration between researchers from Japan and Switzerland found that bacterial infection activates hematopoietic stem cells in the bone marrow and significantly reduces their ability to produce blood by forcibly inducing proliferation. These findings indicate that bacterial infections might trigger dysregulation of blood formation, such as that found in anemia or leukemia. This information is important to consider in the development of prevention methods for blood diseases.

Background: Bacterial Infection and the Associated Immune Reaction

When a person becomes infected with a virus or bacteria, immune cells in the blood or lymph react to the infection. Some of these immune cells use “sensors” on their surfaces, called Toll-like receptors (TLR), to distinguish invading pathogens from molecules that are expressed by the host. By doing so, they can attack and ultimately destroy pathogens thereby protecting the body without attacking host cells.

Bone marrow contains hematopoietic stem cells which create blood cells, such as lymphocytes and erythrocytes, throughout life. When infection occurs, a large number of immune cells are activated and consumed. It therefore becomes necessary to replenish these immune cells by increasing blood production in bone marrow. Recent studies have revealed that immune cells are not the only cells that detect the danger signals associated with infection. Hematopoietic stem cells also identify these signals and use them to adjust blood production. However, little was known about how hematopoietic stem cells respond to bacterial infection or how it affected their function.

Proof: Hematopoietic Stem Cell Response to Bacterial Infection

Researchers from Kumamoto University and the University of Zurich analyzed the role of TLRs in hematopoietic stem cells upon bacterial infection, given that both immune cells and hematopoietic stem cells have TLRs. Lipopolysaccharide (LPS), one of the key molecules found in the outer membrane of gram negative bacteria and known to cause sepsis, was given to laboratory animals to generate a bacterial infection model. Furthermore, researchers analyzed the detailed role of TLRs in hematopoietic stem cell regulation by combining genetically modified animals that do not have TLR and related molecules, or agents that inhibit these molecules.

The results showed that LPSs spread throughout the body with some eventually reaching the bone marrow. This stimulated the TLR of the hematopoietic stem cells and induced them to proliferate. They also discovered that while the stimulus promoted proliferation, it also induced stress on the stem cells at the same time. In other words, although hematopoietic stem cells proliferate temporarily upon TLR stimulation, their ability to successfully self-replicate decreases, resulting in diminished blood production. Similar results were obtained after infection with E. coli bacteria.

Future Work

This study reveals that hematopoietic stem cells, while not in charge of immune reactions, are able to respond to bacterial infections resulting in a reduced ability to produce blood. This suggests that cell division of hematopoietic stem cells forced by bacterial infection induces stress and may further cause dysregulated hematopoiesis like that which occurs in anemia or leukemia. “Fortunately we were able to confirm that this molecular reaction can be inhibited by drugs,” said one of the study leaders, Professor Hitoshi Takizawa of Kumamoto University’s IRCMS. “The medication maintains the production of blood and immune cells without weakening the immune reaction against pathogenic bacteria. It might be possible to simultaneously prevent blood diseases and many bacterial infections in the future.”

This finding was posted online in Cell Stem Cell on 21 July 2017, and an illustration from the research content was chosen as the cover of the issue.

Explore further: Innate reaction of hematopoietic stem cells to severe infections

More information: Hitoshi Takizawa et al, Pathogen-Induced TLR4-TRIF Innate Immune Signaling in Hematopoietic Stem Cells Promotes Proliferation but Reduces Competitive Fitness, Cell Stem Cell (2017). DOI: 10.1016/j.stem.2017.06.013

Journal reference: Cell Stem Cell

Provided by: Kumamoto University

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Bacterial infection stresses hematopoietic stem cells – Medical Xpress

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After treatment for serious illness, NBC-5 anchor Rob Stafford returning to air – Chicago Tribune

NBC-5 News anchor Rob Stafford will return to the air Monday, after months of grueling treatment for a rare blood disorder that gave him a harrowing look at “my own mortality.”

“I thought we’d get this thing nipped in the bud,” said Stafford, 58, who took a leave of absence in March after being diagnosed to be in the early stages of amyloidosis.

Instead, Stafford said, he spent much of the last six months too sick to eat, drink or walk while learning that the road back to health from serious illness is a process.

“You learn that everybody reacts to these drugs differently and there is no guarantee of any outcome,” he said.

Amyloidosis occurs when abnormal protein called amyloid is produced in bone marrow and can be deposited in tissues and organs. There are more than 40 types of the disorder that affect the heart, kidneys, liver, spleen, nervous system and digestive tract. Stafford’s type known as light chain amyloidosis is rare, according to Dr. Ronald Go, Stafford’s hematologist at the Mayo Clinic in Rochester, Minn.

Doctors had planned to remove or “harvest” stem cells from Stafford’s own bone marrow and freeze millions of healthy ones. After wiping out the unhealthy cells using chemotherapy, Stafford was to have the healthy stem cells transplanted back into his bone marrow, where they were to reproduce themselves, Go said in March.

Zbigniew Bzdak/Chicago Tribune

Rob Stafford, shown Aug. 24, 2017, is planning to return to the anchor desk at NBC-5 News on Aug. 28 after months battling amyloidosis.

Rob Stafford, shown Aug. 24, 2017, is planning to return to the anchor desk at NBC-5 News on Aug. 28 after months battling amyloidosis. (Zbigniew Bzdak/Chicago Tribune)

But Stafford ran into several complications immediately after the transplant process began that forced him to remain hospitalized for most of March.

“There were times in the hospital when I thought he might not make it,” said his wife, Lisa Stafford, who would jog around the Rochester area to alleviate her stress.

“On the runs, I would stop at every church to pray and light a candle.”

Stafford returned to his home in Hinsdale in early April, too weak sometimes to walk across the room, drink a milkshake or even stay awake for the news, he said.

In June, test results showed the bone marrow transplant did not work as they had planned, and Stafford would need a new course of action to fight the disease, he said.

It was a terrifying place to be, Stafford said.

“You think, ‘What if nothing works?'” he said. “I have clearly thought about my own mortality.”

Doctors at Rush University Medical Center started Stafford on a new regimen of weekly chemotherapy, which dramatically improved his health. While he has not yet reached the low amyloid measurements that define remission, doctors are optimistic about his recovery and have cleared Stafford to return to work, he said.

Stafford will return to the 10 p.m. news. Dick Johnson and Patrick Fazio will share anchoring duties with Allison Rosati at 5 p.m. and 6 p.m. until Stafford is ready to return to those newscasts, said Frank Whittaker, station manager and vice president of news for NBC Chicago.

“We are eagerly looking forward to Rob’s return on Monday night,” Whittaker said in an email. “He has inspired all of us with his courage and determination over the past six months. It will be great to have him back in our newsroom.”

Stafford said he remains grateful for the support he and Lisa felt from viewers, who sent him a steady stream of Facebook messages, cards and personal stories.

“It’s like running a marathon, and there are all these people along the side cheering you on,” Stafford said. “It helps you get through it.”

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After treatment for serious illness, NBC-5 anchor Rob Stafford returning to air – Chicago Tribune

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miRNA-221 of exosomes originating from bone marrow mesenchymal stem cells promotes oncogenic activity in gastric … – Dove Medical Press

Min Ma,1,* Shilin Chen,1,* Zhuo Liu,1 Hailong Xie,2 Hongyu Deng,3 Song Shang,1 Xiaohong Wang,4 Man Xia,5 Chaohui Zuo1

1Department of Gastroduodenal and Pancreatic Surgery, Laboratory of Digestive Oncology, Hunan Cancer Institute, Hunan Cancer Hospital, Affiliated Cancer Hospital of Xiangya School of Medicine, Central South University, 2Institute of Cancer Research, South China University, 3Department of Laboratory Medicine, Hunan Cancer Hospital, Affiliated Cancer Hospital of Xiangya School of Medicine, Central South University, 4Department of Molecular Medicine, College of Biology, State Key Laboratory of Chemo/Biosensing and Chemometrics, Hunan University, 5Department of Gynecological Oncology, Hunan Cancer Hospital, Affiliated Cancer Hospital of Xiangya School of Medicine, Central South University, Changsha, Hunan, China

*These authors contributed equally to this work

Abstract: Worldwide, gastric cancer (GC) is one of the deadliest malignant tumors of the digestive system. Moreover, microRNAs (miRNAs) of exosomes harbored within cancer cells have been determined to induce inflammatory conditions that accelerate tumor growth and metastasis. Interestingly, the oncogenic role of bone marrow mesenchymal stem cells (BM-MSCs) in the modulation of immunosuppression, tumor invasion, and metastasis was discovered to be partly mediated through the secretion of exosomes. In this article, high expression of miRNA-221 (miR-221) in exosomes of the peripheral blood was determined to be positively correlated with the poor clinical prognosis of GC, especially with respect to tumor, node, and metastases stage. Therefore, the expression of miR-221 in exosomes of the peripheral blood may be an important detection index for GC. Proliferation, migration, invasion, and adhesion to the matrix of GC BGC-823 and SGC-7901 cells were significantly enhanced by exosomes that originated from BM-MSCs that were transfected with miR-221 mimics. In conclusion, extracted exosomes from BM-MSCs transfected with miR-221 oligonucleotides can act as high-efficiency nanocarriers, which can provide sufficient miR-221 oligonucleotides to influence the tumor microenvironment and tumor aggressiveness effectively. Notably, the use of a miR-221 inhibitor with an excellent restraining effect in exosomes provides therapeutic potential for GC in future clinical medicine.

Keywords: exosomes, miR-221, BM-MSCs, gastric cancer, prognosis, oncogenic activity

This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License.By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms.

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miRNA-221 of exosomes originating from bone marrow mesenchymal stem cells promotes oncogenic activity in gastric … – Dove Medical Press

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RegenxBio to Acquire Dimension Tx in Combo of Gene Therapy Companies – Xconomy

Xconomy Boston

Dimension Therapeutics has agreed to be acquired by RegenxBio, the gene therapy developer that originally helped form the company four years ago.

RegenxBio (NASDAQ: RGNX), based in Rockville, MD, will pay $3.41 per share in the all-stock deal valued at approximately $86 million. By comparison, Cambridge, MA-based Dimension (NASDAQ: DMTX) went public at $13 per share in 2015. Dimensions closing stock price on Thursday was $1.20.

The acquisition agreement comes two months after Dimension laid off a quarter of its staff and shifted its priorities away from its experimental hemophilia B gene therapy, DTX101. Dimension made those moves in the wake of early clinical trial results that suggested the therapy prompted a possible immune system response. While immunosuppressive steroids can tamp down these responses, such treatment can also diminish the effect of gene therapy. Dimensions stock price tumbled by nearly 50 percent on those January results.

Gene therapies aim to treat inherited disorders by transplanting normal genes that correct or fix genes that are missing or defective. Fixing the gene is meant to address the root cause of a disease and offer a long-lasting treatment, and perhaps even a cure. The FDA has not yet approved any gene therapies, but at one point, Dimension was in the mix of companies aiming to bring these treatments to the market. Spark Therapeutics (NASDAQ: ONCE) has since emerged as the company likely to receive the first U.S. gene therapy approval. The Philadelphia biotechs lead gene therapy candidate, a potential treatment for an inherited form of blindness, is currently being reviewed by the FDA. Spark has also reported progress in early-stage clinical trials for its hemophilia B gene therapy candidate.

Dimensions gene therapies deliver healthy genes using a modified virus, a gene delivery technology that was developed by RegenexBio. In 2013, RegenxBio joined with Fidelity Biosciences to form Dimension. Dimensions scientific and technical advisory board was led by James Wilson, a University of Pennsylvania geneticist who was RegenxBios scientific founder.

In acquiring Dimension, RegenxBio will add to its pipeline two Dimension gene therapy candidates: One compound, called DTX301, is being prepared to start clinical testing in patients who have ornithine transcarbamylase (OTC) deficiency, a disorder characterized by the lack of an enzyme key to breaking down and removing nitrogen from the body. The other compound, DTX401, is in development as a potential treatment for glycogen storage disease type 1a (GSD1a), an inherited disorder that leads to the buildup of a complex sugar called glycogen. RegenxBio will also acquire other preclinical compounds in development, as well as intellectual property that Dimension developed using RegenxBios technology.

The merger agreement prohibits Dimension from seeking a better deal, and the company has agreed to unspecified certain restrictions on responding to any proposals that may come its way, according to a securities filing. Dimension shareholders still need to sign off on the deal, which has received approval from the boards of directors of both companies. But if Dimension calls off the deal, it must pay RegenxBio a $2.85 million termination fee, according to the filing.

The companies expect to close the acquisition by the end of 2017. Upon closing, Dimension will become a subsidiary of RegenxBio; Dimension shareholders will own approximately 10.9 percent of the combined company, according to the agreement.

Image from Depositphotos.

Frank Vinluan is editor of Xconomy Raleigh-Durham, based in Research Triangle Park. You can reach him at fvinluan [at]

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Cambridge gene therapy firm Dimension Therapeutics to be acquired – Boston Business Journal

Boston Business Journal
Cambridge gene therapy firm Dimension Therapeutics to be acquired
Boston Business Journal
One of the three gene therapy biotechs in Cambridge, Dimension Therapeutics, has agreed to be acquired by a Maryland company in an all-stock transaction that values Dimension at just $86 million a fraction of its value a year ago. … team and of

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Global Gene Therapy Partnering Terms and Agreements 2010 to … – Business Wire (press release)

DUBLIN–(BUSINESS WIRE)–The “Global Gene Therapy Partnering Terms and Agreements 2010 to 2017” report has been added to Research and Markets’ offering.

The Global Gene Therapy Partnering Terms and Agreements 2010-2017 report provides an understanding and access to the gene therapy partnering deals and agreements entered into by the worlds leading healthcare companies.

The report provides a detailed understanding and analysis of how and why companies enter gene therapy partnering deals. The majority of deals are early development stage whereby the licensee obtains a right or an option right to license the licensors gene therapy technology or product candidates. These deals tend to be multicomponent, starting with collaborative R&D, and commercialization of outcomes.

This report provides details of the latest gene therapy, oligonucletides including aptamers agreements announced in the healthcare sectors.

Global Gene Therapy Partnering Terms and Agreements includes:

In Global Gene Therapy Partnering Terms and Agreements, the available contracts are listed by:

Key Topics Covered:

Executive Summary

Chapter 1 – Introduction

Chapter 2 – Trends in Gene therapy dealmaking

Chapter 3 – Leading Gene therapy deals

Chapter 4 – Most active Gene therapy dealmakers

Chapter 5 – Gene therapy contracts dealmaking directory

Chapter 6 – Gene therapy dealmaking by technology type

Chapter 7 – Partnering resource center

For more information about this report visit

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Nature’s ‘Virgin Birth’ – Juneau Empire (subscription)

Parthenogenesis means virgin birth or the production of offspring by one parent (a female) without genetic input from a male: the females egg is not fertilized by sperm. Thus, the offspring have only their mothers genes and in most cases will be just like their mother. This asexual mode of reproduction is widespread in plants and animals, although it happens in various ways, and the resulting offspring may differ, depending on the way they were made. For example, in alpine bistort (see my recent essay in this section of the paper), the offspring are tiny plantlets, in honeybees only the males are produced parthenogenetically, and in fishes and salamanders this way of reproduction produces only females.

There are so many different life histories and such a variety of organisms that engage in parthenogenesis that it is hard to know where to start a short essay on the subject. So, of necessity, I will simplify things by, first, dealing with some basic distinctions and, second, by focusing chiefly on vertebrates.

Individuals of some organisms can reproduce both sexually and asexually. For example, a honeybee queen makes her worker broods (all females) from fertilized eggs (with two sets of chromosomes) but toward the end of the season, she produces males from unfertilized eggs (with only one set of chromosomes). Dandelions produce most of their seeds by asexual means but reportedly a small fraction of their seeds can be the result of pollination and fertilization.

Some organisms have complex life cycles in which a sexual generation alternates with an asexual, parthenogenetic generation. This pattern is found among lots of plants, such as mosses and ferns, in which the spores are produced asexually but give rise to individuals that are sexual. The pattern is also found in a variety of invertebrates, such as some crustaceans and aphids. Many aphids, for example, reproduce parthenogenetically (and viviparously) in spring and summer, producing only female offspring. As fall approaches, however, female aphids start to produce some males (with one fewer chromosome than females) also. Males and females mate, females lay overwintering, fertilized eggs, and a new generation of parthenogens emerges the following spring.

Among vertebrates, regular parthenogenesis occurs in certain populations of lizards, salamanders, a frog, a snake, and some small fishes. Most of these populations are reported to be hybrids between two or even three other species, and some are polyploid (having more than the usual two sets of chromosomes). Typically, all the offspring are female. Interestingly, in some of these all-female species, females apparently need to go through the courtship process with a male of a related species and may even need to mate with him, but the males genes never contribute to the ensuing offspring. The intricate genetics of how all those females make young with two sets of their own chromosomes are complex and differ among species; I will leave all that aside!

However, for mammals and birds, I have to deal with some genetics. In mammals, each of the normal two sets of chromosomes includes two chromosomes that determine the gender of the offspring. Females have two X chromosomes and males have one X and one Y chromosome (the labels are arbitrary). If a female were to reproduce parthenogenetically, all her offspring would also be female (XX), lacking the necessary Y chromosome to be a male. However, this mode of reproduction is unknown in naturally reproducing mammals, although reportedly it can be induced by experimental tinkering with laboratory mice.

Birds normally reproduce sexually, but here it is the males that have a pair of similar sex chromosomes (called ZZ) and the females that have dissimilar ones (ZW). I know of no reports of parthenogenesis in wild populations of birds, but the females of some varieties of domestic turkeys are known to reproduce parthenogenetically. They produce only male offspring, because, in the process, somehow the W chromosomes get lost.

Why do these organisms reproduce parthenogenetically? They have relinquished the advantages of sexual reproduction, which provide new genetic combinations every generation and hence the ability to adapt to new and changing conditions. Organisms that are sometimes sexual and sometimes parthenogenetic retain this adaptability. In contrast, organisms that are strictly parthenogenetic produce offspring just like themselves (barring mutation), so their offspring typically require exactly the same living conditions as the parents and there is little or no ability to adapt to changing circumstances. Therefore, in general, parthenogenetic reproduction is thought to have a limited evolutionary future, as each lineage meets unsuitable conditions and dies out. So it is not surprising that strict parthenogenesis is not very common in nature.

Mary F. Willson is a retired professor of ecology.

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Science recognizes transgender people – LancasterOnline

There is no possible argument that can change a faith. I respect the Aug. 14 letter writers belief (Trump transgender ban the right call). However, his statement that there is no scientific evidence supporting the existence of transgender people begs a disclaimer.

Studies have shown the amygdala a part of the human brain in gay men resembles the amygdala in the female brain. The journal Endocrine Practice noted that researchers reviewed disorders of sexual development, neuroanatomical differences in the male and female brain, and steroid hormone genetics. They concluded the data suggests a biological origin for transgender persons.

The Diagnostic and Statistical Manual of the American Psychiatric Association recognizes the existence of transgender people as does the American Psychological Association.

Does the writer know that for the first six weeks of his life in utero that he was female? That would be when his mother released the hormones to change his fetus to male. But what if some mothers dont produce enough of that hormone? Or it is delivered a tad late?

We talk a lot about how wonderful diversity is, but when it shows up in humans it scares the heck out of some people.

Thousands of transgender persons served and thousands continue to serve in the military. I had the privilege of meeting Kristin Beck, who was Christian Beck, Navy Seal Team 6, before she transitioned. Im sorry the writer believes that transgender people are sinners simply because they exist.

To use a biblical reference, Id suggest Genesis 1:27, which tells us God created people in his image, both male and female. So if we are created in his image, then every person has some male and some female in them. I wonder what might happen if a person with male plumbing has a female brain? Hmm?

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Pet of of the Week: Sweet Pea – Northwest Herald

Sweet Pea3 years 2 months old femaleCalico/Tortie DSH

She was abandoned with 3 other cats by their guardians when they moved. She lived with dogs as well as cats, but not with children. She is strikingly beautiful with her black, orange and white on her face, neck and toes. Did you know Calicos and Torties are always female due to genetics? Her bright green eyes are a contrast to her fantastic markings and then there is her little pink nose. She’s a petite girl at only 7 pounds. She has the softest fur and she loves to be petted. She is not the kind of cat that likes to be picked up or held but she does enjoy getting attention.

Her new favorite spot is on the counter so she can watch what is going on in the room. She was having a hard time adjusting to all the cats but she seems to be settling down now. One of the 4 cats that were abandoned has been adopted but we still have Polly Bear, Panda Anne and Sweet Pea. Come meet all three of them in Cat Country. Helping Paws is located at 2500 Harding Lane, Woodstock, Illinois (Off Route 14 at the Lake Shore Drive traffic light). Give us a call at 815-338-4400 or visit us online at

Sweet Pea is a volunteer favorite!

Photo provided by Helping Paws Animal Shelter

Photo provided by Helping Paws Animal Shelter

Pet of of the Week: Sweet Pea – Northwest Herald

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Hendrix Genetics expand layer distribution in the US – Poultry World (subscription)


News Aug 25, 2017337views

Hendrix Genetics has officially opened a new $18.5m hatchery in Nebraska, creating 45 jobs, as it aims to expand its share of the market.

The new layer hatchery has a capacity to produce 24m female chicks per year.

Key contract growers located near the new hatchery will rear and house the birds during production. The company is already working with 8 contract growers in the Grand Island area who have invested in new barns with a capacity of 40,000 birds per barn.

The Grand Island contract growers will complete the new national production hub for Hendrix Genetics in the US, enabling the firm to meet another 10% of the total US layer market needs.

Ron Joerissen, Hendrix Genetics production director layers, said: The new hatchery signifies a major step in supplying the US layer market with top quality laying hens. We are dedicated to breed for the egg producing industry of today and tomorrow.

Nebraskas Governor Pete Ricketts described the plant as a great example of value-added agriculture.

It is not only a $20m investment here that will create between 40 to 50 jobs but it is going to allow area farmers to put up these barns for the eggs that will supply this hatchery and a diversified revenue stream for those farmers who are participating, he said.

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Female cialis source – Buy female cialis online cheap – You Know I Got Soul

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CRISPR May One Day Cure Sickle-Cell Disease – Futurism

In BriefSickle-cell disease, which afflicts approximately 100,000 Americans with immense pain and shortened life-span, is caused by a single mutated nucleotide within the gene that codes for hemoglobin, making it a top candidate for CRISPR and maybe a cure.

Approximately 100,000 people in the US have sickle-cell disease. Most sufferers are African-Americans, but there are also many Latino patients as well as people of Mediterranean, Middle Eastern, Asian, and Southeast Asian descent who have sickle-cell disease. The disease is painful, and shortens the lifespan of sufferers to about 40 to 60 years.

Although its cause has been understood for more than a century, patients with sickle-cell have historically been underserved by both the pharmaceutical industry and the medical establishment. However, as CRISPR is changing the face of medicine, it may also be changing this lived reality for people with sickle-cell disease, which is caused by a single mutation that is well-studied, making it an appealing candidate for correction with the gene-editing tool.

CRISPR works by cutting into a DNA sequence in a specific place and either deleting a sequence or editing it. In the case of sickle-cell disease, the mutation that causes the illness is a single nucleotide: a T where an A should be within the HBB gene, which codes for hemoglobin. Red blood cells with healthy hemoglobin are the typical disc-shaped red cells seen microscopically, but the mutation causes unhealthy sickle-shaped cells that stick together. Eventually this causes a buildup of cells, blocked blood vessels, and lack of oxygen to different regions in the body along with pain, organ damage, and eventually premature death.

This one mutated nucleotide is an easy fix for CRISPR, which can simply cut and edit that nucleotide. Thus far researchers have had great success with CRISPR in mice and on human sickle cells in the lab, making the next step a clinical trial and maybe a cure.

CRISPR as a tool is not free from safety concerns, but many sickle-cell patients are eager to take part in clinical trials. Lab experiments have shown impressive results, with CRISPR successfully editing about 85 percent of stem cells extracted from sickle-cell patients in order to create healthy red blood cells a great result, given that patients with sickle cells below 30 percent exhibit no symptoms.

Once those healthy cells are reintroduced to the body, they go back to the bone marrow where they create more healthy blood cells for the body. The researchers say these healthy blood cells will proliferate because they will outnumber the sickled cells, particularly since they live 4.5 to 12 times longer.Click to View Full Infographic

Although CRISPR clinical trials have yet to begin in the US, the National Institutes of Health (NIH) is launching a study at the end of August 2017 to explore the opinions people with sickle-cell have about CRISPR technology. If a CRISPR sickle-cell cure does hit the market, access to it will be a defining issue. Ghana-born physician Isaac Odame, who specializes in sickle-cell disease and works at the Hospital for Sick Children in Toronto, told MIT Technology Review that drug costs for hydroxyurea, commonly used to treat the disease, are too expensive for many to afford, even at one to two dollars per day. Scientists and others from all over the world have been meeting and talking about ensuring that people have equal access to CRISPR, although thus far the issue has not passed the discussion stage.

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Five myths about gene editing – The Washington Post – Washington Post

Gene editing made great strides this month when scientists reported success using a technique called CRISPR Clustered Regularly Interspaced Short Palindromic Repeats to correct a serious, disease-causing mutation in human embryos. Researchers fixed a mutation that leads to hypertrophic cardiomyopathy, a relatively common inherited disease of the heart muscle that affects about 1 in 500 people. The public response was wildly enthusiastic. But any new technology can spur confusion and hyperbole, and this one is no exception. Here are five myths about what CRISPR can and cant do.

Myth No. 1

CRISPR can build customized babies.

In February 2016, one CRISPR critic predicted in Mother Jones, We are this close to designer babies. And this month, biologist Richard Dawkins mused that the genetically edited designer babies on the horizon shouldnt be any more worrisome than children who are pushed by their parents to hone their natural talents.

But CRISPR is not on the cusp of creating a super-race for one main reason: We dont know how to do that. We dont know how to build baby Einsteins or order up a finely chiseled and uber-flexible Simone Biles, because there is no single smart gene or spunky, lithe gymnast gene.

Much of what goes on inside our bodies and our brains is influenced by a combination of genes and environment, nature and nurture. Beauty, athleticism and musicality dont hinge on a single sequence of base-pairs. Instead, these characteristics are considered complex traits that are shaped by the input of multiple genes, along with lifestyle and environmental factors. This is especially true of intelligence. Studies, many of which have tracked adopted children and twins, have indicated that just 50 percent of the variation in intelligence among people can be chalked up to genetics.

Myth No. 2

CRISPR is the only hope for would-be parents with genetic conditions.

The Genetic Literacy Project, a group dedicated to increasing the publics understanding of gene research, wrote this year that parents worried about passing on genetic disorders to their children have hope: Gene editing. Likewise, an Australian newspaper greeted this months CRISPR news with an ebullient headline: Hope for parents as science deletes mutant killer gene.

While its undeniable that the ability to home in on and fix a genetic error would enable some would-be parents to sidestep the possibility of transmitting a disease to their offspring, gene editing is not the only option in such cases. Preimplantation genetic diagnosis has been used for decades to help couples who go through IVF ensure that they select healthy embryos from among those fertilized in a clinic. The technology has allowed carriers of genetic disease to conceive unaffected children, starting in 1991, when it was first used to avoid cystic fibrosis.

In the event that not enough healthy embryos are created during the IVF process, CRISPR could one day lend a helping hand and repair defective embryos, giving a couple more choices. Still, an essay that accompanied this months research report, published in Nature, concluded that embryo genetic testing during IVF remains the standard way to prevent the transmission of inherited diseases in human embryos.

Myth No. 3

CRISPR will be available for widespread use soon.

I think its really likely that in the not-too-distant future it will cure genetic disease, Jennifer Doudna, one of the scientists behind CRISPR, said at a recent conference . The Chicago Tribunes editorial board shared the sentiment in April 2016, claiming that for some people born with debilitating genetic diseases, scientists could give them relief from their symptoms and maybe even cure them in the not-too-distant future.

Not so fast. In the United States, a human-embryo research ban has been in place since 1996, prohibiting the use of federal money to support research in which embryos are created, destroyed or discarded. Recent embryo-editing studies were paid for by universities and foundations, but the lack of federal funding slows the science down.

Moreover, just because one experiment was successful doesnt mean the next one will be. In fact, even though most embryos were successfully repaired in the recently reported study, more than a quarter werent. Another concern is that CRISPR may solve one problem while unintentionally creating another. A challenge is to avoid off-target edits or mosaicism, a condition that occurred in previous attempts, in which CRISPR successfully edited the specific mutation in some but not all cells. The technique needs much more practice before its ready for widespread public use.

Myth No. 4

CRISPR means a future without genetic diseases.

There is widespread interest in using CRISPR, which allows the targeted editing of specific genes, to potentially end genetic disease in humans, Vice reported in December 2015 . A more recent headline from Wired cheered that CRISPR may cure all genetic disease one day.

While that would certainly be nice, its impossible to edit out all genetic diseases, because not all genetic diseases are simply inherited. There are about 10,000 single-gene disorders that weve discovered diseases caused by a specific, individual gene mutation. But there are thousands more that are caused by multiple genetic factors. Moreover, some genetic conditions are the result of new, spontaneous changes in DNA, called de novo mutations.

Cancer is a prime example. While some types of cancer can be inherited, many others dont appear to have a primary genetic component, and often respond to a variety of environmental factors and other outside causes. Ending genetic disease is a worthy goal, but an extremely complicated one that will require more than eliminating heritable disease.

Myth No. 5

CRISPR technology will one day be broadly available.

Recent advances in gene-editing technology have made the process cheaper , causing some commentators to predict a quick CRISPR proliferation on the horizon. Gene Editing Is Now Cheap and Easy, one 2015 headline claimed. A Wall Street Journal article concerned with amateurs imitating CRISPRs technology likewise fretted that DIY gene editing is fast, cheap and worrisome.

CRISPR may be cheaper than it once was, but its hard to foresee a future when all prospective parents who could benefit will be able to afford it. As a rule, genetic technologies are very expensive: Patients dont pay just for the supplies used, but for doctors time, labor and equipment, often over a number of appointments. You dont have to look any further than IVF to be reminded that using science to have babies costs a lot of money: The median cost of a single IVF cycle is $7,500. It is unclear whether insurance would cover CRISPR gene editing, but its highly unlikely considering that few pay for preimplantation genetic diagnosis or IVF in the first place.

If CRISPR were to become a safe, accepted embryo-editing technique, its likely that only the well-to-do would be able to afford it, essentially making genetic diseases into diseases of poverty. Its not too hard to imagine a wildly disparate economic playing field a dystopian vision, in the words of StatNews writer Jim Kozubek, in which these treatments will be available to only the wealthiest among us who can pay for them.


Five myths is a weekly feature challenging everything you think you know. You can check out previous myths, read more from Outlook or follow our updates on Facebook and Twitter.

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Building up its I/O ops, CRISPR Therapeutics allies with Marcela Maus at Mass General – Endpoints News

Marcela V. Maus

CRISPR Therapeutics $CRSP is allying with some top immuno-oncology researchers at Mass General to collaborate on some new gene editing working aimed at creating a new and better generation of T cell therapies.

The biotech based in Switzerland with a big research group in Cambridge, MA has tied the partnership knot with Marcela V. Maus, who runs the cellular immunotherapy group at Mass General. Shell be using the biotechs pioneering CRISPR/Cas9 tech to see how it works in building a new-and-improved T cell therapy just as the original models appear poised to hit the market later in the year.

This is by no means the first such gene editing effort in I/O, but it does reflect the companys continuing effort to build a pipeline of I/O drugs. They hired Jon Terrett (a vet at the South San Francisco-based cancer biotech CytomX) to run the operation on I/O back in February and struck a deal with MaSTherCell SA on making their CAR-T CTX101, targeting CD19 cancers. And they believe that they have potential for next-gen therapies that can work in both liquid as well as solid tumors the Holy Grail in I/O now.

A little more than a year ago Carl June and his team at the University of Pennsylvania, backed by The Parker Institute, obtained permission to run the first gene editing experiment for an immunotherapy with human subjects. That project involved using CRISPR in 18 subjects, extracting T cells and then editing them to add a protein that recognizes cancer cells and issues an attack order, then edit out a protein that interferes with the attack and finally disable the cloaking mechanism cancer cells use to hide from the immune system.

We have already seen the profound benefit that T cell therapies can have for certain patients with a specific set of tumor types, said Maus in a prepared statement.Now the potential with gene editing, and specifically CRISPR/Cas9, exists to create improved versions of these cells that may work for a wider variety of patients with a more diverse set of tumor types. Im glad to see the commitment CRISPR Therapeutics is making to this area, and am excited to collaborate with them.

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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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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

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Trying to Find a Healthy Diet? Look to Your Genes –

The latest trend in nutrition isn’t a fad diet or newly discovered supplement; it’s your DNA.

Unlocking the secrets of one’s genetic code used to be confined to the laboratory, but increasingly, the big business of DNA is now going after your eating habits.

Scientists already know that variations in our genes determine how well our bodies metabolize certain compounds for example, people with a variation of the CYP1A2 gene metabolize caffeine more slowly, and are at an increased risk of heart attack and hypertension if they drink more than a couple of cups of coffee a day.

Companies now want to take the buzz over DNA testing one step further and market the tests as a way to determine how peoples bodies handle nutrients. And tech firms are stepping up to fill that demand. More and more genetics startups are getting into nutrition, with tests that claim to help people choose the best food to eat to feel good and even lose weight.

Genetic testing service 23andMe has genotyped more than 2 million customers to determine ancestry and genetic health risks, and Nutrigenomix offers tests designed to help medical professionals make recommendations for a person’s intake of sodium, omega-3 fatty acids, vitamin C, and yes, caffeine.

Ahmed El-Sohemy, a professor of nutritional sciences at the University of Toronto and the founder of Nutrigenomix, points to research that shows the “one-size-fits-all model of nutritional guidance” is not the most effective way for people to eat healthily or lose weight.

“There’s research now showing that people who get DNA-based dietary advice are more likely to follow recommendations. So not only are people getting more accurate dietary advice, but they are more likely to follow it,” said El-Sohemy.

Now, there’s a new kid on the block: Oakland-based personalized nutrition company Habit.

“We think we’re going to disrupt the diet industry,” Habit founder and CEO Neil Grimmer told NBC News. “When you think about moving from a one-size-fits-all approach to food to something that’s highly personalized, it changes everything. It changes the way you shop. It changes the way you eat. And quite frankly, it even changes the way you think about your own health and well-being.”

Habit’s home testing kit containing DNA cheek swabs, three finger-prick blood tests, and a special shake. The bloodwork is designed to show how your body metabolizes the huge amounts of carbohydrates, fats, and proteins in the shake. Chiara Sottile

At Habit, it’s not just DNA data they’re using to make diet recommendations. For $299, Habit sends customers an at-home test kit containing DNA cheek swabs, three finger-prick blood tests, and a “metabolic challenge shake loaded with 950 calories. Users take one blood test prior to drinking the shake, and two more timed blood pricks afterwards. The bloodwork is designed to show how your body metabolizes the huge amounts of carbohydrates, fats, and proteins in the shake.

“You layer in your blood work, your fasting blood work, and you layer in your metabolism, and all of a sudden you have a really clear picture of what’s going on inside yourself,” said Grimmer.

The Habit test kit also asks you to measure your waist circumference and provide information about your weight and activity level. Users send in the DNA swabs and blood sample testing cards sealed in a pre-paid envelope, and then get their results back a couple weeks later.

Health-conscious San Francisco resident Michelle Hillier was introduced to Habit through a friend. When she received her test results, she was surprised to learn she is a diet type Habit calls a “Range Seeker” meaning she should eat about 50 percent of her daily calories in carbohydrates, about 30 percent from fat, and 20 percent from protein.

“You hear so much about how you need so much protein, and I’m a pretty active person so I had been really upping my protein. And to find out that I’m supposed to have more carbs than anything else was really surprising to me,” said Hillier, who is not affiliated with the company.

She also learned that she has genes that are impactful for lactose and caffeine sensitivity, something she had suspected. Like all Habit users get for the $299, after she received her test results, Hillier had a 25-minute phone consultation with a registered dietitian from the Habit team.

Michelle Hillier, pictured, learned she is a “Range Seeker,” which means she should eat about 50 percent of her daily calories in carbohydrates, about 30 percent from fat, and 20 percent from protein. Chiara Sottile

The Habit test kit is now available nationally (except in New York, New Jersey, and Rhode Island, because of regulatory restrictions). In the San Francisco Bay Area, Habit users get an added perk: the company will cook you fresh meals in their Oakland kitchen based on your diet recommendations and deliver them to your door weekly.

Hillier receives about three dinners a week costing between $10 and $15 a meal and she can choose her meals with Habit’s online dashboard.

For Hillier, the Habit meals have been a positive addition to her already healthy lifestyle, though she admits: “The shake was awful,” referring to the metabolic challenge shake. “It was like drinking seven coffees, four avocados, and a scoop of ice cream,” said Hillier with a laugh.

Blood pricks and a “Challenge Shake” that lives up to its name could be barriers for some people but, Hillier says, it was well worth it for her.

“I’ve noticed that my clothes are looser on my body, I feel better. I noticed that I have more energy, honestly, since I started doing the meal plans,” said Hillier in an interview, noting she’s lost about seven pounds since she started receiving the Habit meal plans in May.

Kristin Kirkpatrick is a registered dietitian at the Cleveland Clinic Wellness Institute, where they offer DNA testing kits from Nutrigenomix.

“Many of my patients have mentioned to me that it [nutrigenomics] has truly changed the way that they eat. But I don’t think it’s the first step. I think seeing a professional and going over what those important goals and barriers are is definitely what you want to do first, said Kirkpatrick in an interview with NBCs Jo Ling Kent.

As some urge potential consumers to do their homework and speak with their own healthcare professional before they take the plunge into their genetics, the market for DNA-based products is racing ahead. Just last month, Helix, a personal genomics company, launched the first online “marketplace.”

Customers who have their genome sequenced with Helix get access to a slew of services from other emerging genomics companies ranging from Vinome,which aims to pick wine for you based on your genes, to EverlyWell, which offers food sensitivity and metabolism tests.

“People are very interested to go beyond the generalities that they’ve seen and get more specific to what’s actually impacting their genes,” said Kirkpatrick, though she warns this kind of testing “may not be ready for primetime.”

The Academy of Nutrition and Dietetics agrees, writing in a 2014 opinion paper that, “…the use of nutrigenetic testing to provide dietary advice is not ready for routine dietetics practice.” In the same paper, the Academy did also characterize nutritional genomics as insightful into how diet and genes impact our phenotypes.

“I don’t think it’s going to answer every single question that you may have about your health and it’s definitely not going to answer things that are very specific to health ailments that you may have,” Kirkpatrick told NBC News.

“Will it put you in the right direction towards knowing what foods you need to increase? What foods perhaps you should have less of and what’s the best source of protein or fat related to weight loss? Absolutely,” Kirkpatrick continued.

By 2020, the genomics market is expected to generate a staggering $50 billion globally, and diagnostic tools, health tech, and wireless wearables are expected to boom from $2 billion to $150 billion globally, according to one analysis.

“I think this is the start of a highly personalized future,” said Habit CEO Neil Grimmer. “What we really hope to do is actually dispel a lot of the myths, get rid of the fad diets and actually get something that’s personal to you.”

Michelle Hillier says her Habit “nutrition coach,” a registered dietitian, also advised her that she should consider factors beyond just her test results.

“She said take the results with a grain of salt, because you have to first see how you feel when you eat this way. It’s not meant to be the ‘end all be all,’ but it is a guide like anything else,” said Hillier.

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Trying to Find a Healthy Diet? Look to Your Genes –

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You can be denied life insurance based on genetic tests and there’s little protection – ABC Online

By Jane Tiller and Paul Lacaze, Monash University

Posted August 25, 2017 17:11:23

A parliamentary inquiry is currently underway into Australia’s life insurance industry, which has raised several issues including discrimination by insurers against people with mental health problems.

In our submission to the inquiry, we argue comparable discrimination is possible based on genetics, with insurers denying applicants life insurance and raising premiums inappropriately based on genetic test results.

There is a concerning lack of regulation over the use of genetic information by the Australian life insurance industry.

Insurance companies are allowed to use genetic test results to discriminate against applicants for life, permanent disability, and income protection insurance (which all come under the life-insurance product category), with little independent oversight or consumer transparency.

This discrimination can deter people from getting genetic tests and being involved in medical research that could prove useful for their future health and scientific understanding of diseases.

Australian insurers can increase premiums, exclude insurance cover for certain conditions such as cancer, or refuse insurance cover altogether purely based on your genetic test results.

Genetic tests look at DNA, the material that contains the instructions for our bodies to grow, develop and function.

Some DNA changes cause diseases such as cystic fibrosis or Huntington’s Disease, while others can make us more susceptible to conditions such as cancer.

Doctors can refer patients to a genetics service if they consider such tests might be of value due to family or personal history.

Although cases of genetic discrimination are difficult to identify, they have been documented in Australia.

In one case, a woman with a BRCA gene, which is known to increase breast cancer risk, elected to have both breasts removed to reduce her risk.

However, the consequent, significant risk reduction wasn’t taken into account by the insurer.

When she applied for death and critical illness cover, the insurer excluded any cancer cover and imposed a 50 per cent premium loading for death cover.

In another case, a man whose mother had bowel cancer was found to carry a gene increasing his risk of also developing bowel cancer.

He was refused cancer cover despite proactively seeking increased surveillance through colonoscopies, which reduced his risk back down to population average.

The man eventually obtained cover, but only after taking a complaint to the Human Rights Commission.

Under Australian law, life insurance applicants must disclose any known genetic test results if requested by the insurer.

This includes results from approved clinical genetic tests, but also less reliable findings from research or direct-to-consumer (DTC) genetic tests, if they are known to the applicant.

Direct-to-consumer genetic tests are a new concept whereby consumers have genes tested directly through a private company without medical consultation.

Although most of these lack evidence of any predictive medical value, the law does not distinguish between types of genetic tests.

Australian life insurance companies are technically required by law to justify decisions based on genetic results.

In practice, however, consumers have no way of requiring insurers to provide information about how decisions are made.

The Australian Government leaves the life insurance industry to self-regulate its policy through the Financial Services Council (FSC).

This essentially means the insurance industry writes its own rules on the use of genetic data, raising obvious conflicts of interest.

Recently the FSC updated its genetic testing policy to suggest that insurance companies ask applicants if they are considering having a genetic test. This is a concerning development.

Many other countries have protected consumers by restricting or banning the use of genetic information for insurance altogether.

In the UK, a moratorium established in 2001 sets out an agreement between the government and the insurance industry not to ask for, or use, genetic test results (except for Huntington’s Disease for policies worth over 500,000).

Canada has just passed legislation prohibiting insurance companies from asking for any genetic test results.

And many European countries such as Belgium, Austria, Denmark, France, Germany, Lithuania, Norway, Portugal, and Sweden have implemented outright bans or other regulation in accordance with the Council of Europe’s Oviedo (human rights and biomedicine) Convention.

In Australia, the situation is very different. Patients considering predictive or family-based clinical genetic testing are frequently advised to review their life insurance situation prior to taking the test, due to the obligation to disclose results to insurers.

The fear of unknown insurance implications deters some of these people from having this testing.

This can sometimes mean passing up critical information that can be used to help prevent cancers and other serious diseases.

For example, one study looked at patients at risk of bowel cancer due to family history.

It found more than double the patients, who had been advised of the possible effect of having a positive test on their insurance claim, declined testing compared with patients who had not been advised of this possible effect.

Some participants are also being deterred from involvement in medical research, which can sometimes involve the return of genetic findings.

Fortunately, this issue only affects life insurance and related policies in Australia, not private health insurance, which is treated differently.

However, this distinction isn’t always understood by consumers, who may mistakenly believe that these issues affect all insurance types.

As genetic testing becomes more widespread in our society and offers increased potential to help manage patient risk, we must find a way of regulating the insurance implications.

The Australian Government must take action towards an immediate ban (moratorium) on the use of genetic test results in insurance, until adequate long-term regulation is in place.

This would bring us in line with other countries.

Jane Tiller is ethical, legal and social adviser in public health genomics at Monash University.

Paul Lacaze heads Monash University’s public health genomics program.

Originally published in The Conversation


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You can be denied life insurance based on genetic tests and there’s little protection – ABC Online

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Most Women with History of Ovarian or Breast Cancer Are Not Receiving Recommended Genetic Tests, Study Finds – Ovarian Cancer News Today

Genetic screening to detect mutations that can predispose women to the development of breast or ovarian cancer has available since the mid-1990s. However, more than 80 percent of women at risk for these malignancies have not taken the test or discussed it with their physician or healthcare provider, a new study says.

The study National Estimates of Genetic Testing in Women With a History of Breast or Ovarian Cancer was published in the Journal of Clinical Oncology.

In the United States, about 15 percent of ovarian and breast cancers cases are caused by heritable genetic mutations, including those affecting the BRCA1 and BRCA2 genes.

Because these patients are at risk of developing a second cancer, and their relatives also might have higher chances of getting cancer if they share the same mutations, it is important that they undergo genetic testing.Early identification of these risk factors is critical for treatment decisions and preventive care.

Many of these women have inherited genetic changes that put them and their family members at risk for future cancers, Christopher Childers, MD, first author of the study, said in a press release. Childers is resident physician in the department of surgery at the David Geffen School of Medicine at UCLA.

Identifying a mutation is often important for surgical decision-making and cancer therapy, but its importance extends further than that. If individuals are aware that they have these mutations, they can take steps to lower their future cancer risk, Childers said.

Aiming to determine how many patients at risk for these mutations have not been tested, researchers at the UCLA Fielding School of Public Healthanalyzed pooled data from the 2005, 2010, and 2015 National Health Interview Surveys, which are administered by the Centers for Disease Control and Prevention.

To determine women for whom the genetic test would be more beneficial, the team used theNational Cancer Center Network(NCCN)s guidelines for managing care for cancer patients. Women who had had ovarian cancer, or women who had breast cancer at a younger age, or had a mother, sister or daughter who had breast or ovarian cancer, were those for whom a genetic test wouldbe recommended.

Among the 47,218 women included in the surveys,2.7 percent had had breast cancer. Among them, only 29 percent discussed the genetic test with their healthcare provider, and 20.2 percent were advised to be tested; but only 15.3 percent actually took the test.

For the 0.4 percent who had had ovarian cancer, 15.1 percent had discussed the matter with a physician or healthcare provider, and 13.1 percent were advised to undergo genetic testing. But only 10.5 percent were actually tested.

These numbers show that less than one in five women with a history of breast or ovarian cancer who met the NCCN criteria undergo genetic testing.

Many women are not receiving vital information that can aid with cancer prevention and early detection for them and their family, said co-author Kimberly Childers, genetic counselor and regional manager of the Providence Health and Services Southern Californias clinical genetics and genomics program. Thus, we have identified an incredible unmet need for genetic testing across the country.

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Most Women with History of Ovarian or Breast Cancer Are Not Receiving Recommended Genetic Tests, Study Finds – Ovarian Cancer News Today

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