Category Archives: Gene Medicine

Only half got BRCA screen, and more than half of those who didn't said doctors never recommended it

By Kathleen Doheny

HealthDay Reporter

TUESDAY, Feb. 7, 2017 (HealthDay News) -- Though testing for two genes that raise breast cancer risk has been around for decades, a new survey finds many high-risk women don't get the test, often because they aren't told to by their doctors.

Among women with the highest risk, about eight of 10 said they wanted testing for the BRCA1 and BRCA2 mutations. But, "only about half of them actually got the testing they should get," said study author Dr. Allison Kurian, from Stanford University's School of Medicine.

"Genetic cancer testing is not well matched to the medical needs of the patient, to a woman's risk of having a mutation," said Kurian, an associate professor of medicine and of health research and policy.

Why the gap?

About 56 percent of the high-risk women who were not tested said their doctors did not recommend it, the survey found.

In addition to the test itself, genetic counseling can help patients decide whether to seek testing or help them understand test results. But only about 40 percent of all high-risk women, and 60 percent of high-risk women who were tested, said they got such counseling, Kurian's team found.

In the survey, more than 2,500 women with breast cancer were questioned two months after surgery. The patients were asked if they had wanted genetic testing and, if so, whether they had received it. The women ranged in risk, with 31 percent having a high risk of carrying the BRCA mutations that raise both breast and ovarian cancer risk.

Asian Americans and older women were particularly likely to not have been tested, the survey found.

"I think it's very concerning," Kurian said of the findings. She noted that the survey was limited because it was based only on women's responses and recollections. For instance, doctors might have mentioned genetic testing and women might have forgotten that.

Genetic testing, when warranted, can help determine a woman's risk of future cancer and sometimes guide the best type of treatment, Kurian said. A woman can also alert close relatives, such as sisters and daughters, about positive results, in case they want to get tested.

Guidelines from organizations such as the National Comprehensive Cancer Network and the American College of Obstetricians and Gynecologists recommend genetic testing based on risk. An example of someone who should consider it, Kurian said, would be a woman who had breast cancer before age 50 and has a first-degree relative with the disease.

"It used to be this testing was very expensive, costing around $4,000," Kurian said. Then the U.S. Supreme Court ruled in 2013 that genes couldn't be patented, which opened the way for other companies to offer the testing. If not covered by insurance, women can now get the tests for about $250 to $500.

That change was reflected in the findings: Less than 14 percent of the women cited expense as a barrier to testing.

According to Dr. Leonard Lichtenfeld, deputy chief medical officer for the American Cancer Society, "The study hits home. It points out a fundamental problem in what we do and how we do it."

For genetic testing, he said, the science is there, the capability is there, but the implementation is lacking.

However, he cited some limitations with the survey. As Kurian said, the testing information was self-reported, so it may not have been entirely accurate.

Also, the timing of the survey -- from July 2013 to September 2014 -- could have affected the results, Lichtenfeld added.

"Genetic testing was available, but only through a single company, through June of 2013," he said. Other labs may still have been gearing up when the survey ended, so testing prices may not have dropped at that point, Lichtenfeld said.

The geographic area surveyed was also limited, he said, including just Georgia and California.

And while the testing has become less expensive, insurance coverage isn't universal, according to Lichtenfeld. Some plans won't cover testing until a woman is already diagnosed with cancer or they may set additional criteria, such as having a cancer diagnosis and a relative with cancer.

Health professionals need to do a better job of checking and updating family history and understanding what the genetic risk factors for breast cancer might be, Lichtenfeld said. And they need to talk more about genetic testing to patients, he added.

Kurian also said that more genetic counselors are needed.

The study was published Feb. 7 in the Journal of the American Medical Association, and was funded by the U.S. National Institutes of Health.

WebMD News from HealthDay

SOURCES: Allison Kurian, M.D., M.Sc., associate professor, medicine and of health research and policy, Stanford University School of Medicine, Stanford, Calif.; Leonard Lichtenfeld, M.D., deputy chief medical officer, American Cancer Society, Atlanta; Feb. 7, 2017, Journal of the American Medical Association

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High-Risk Women and Breast Cancer Gene Test - WebMD

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Bacteria are not the sole cause of caries; tooth resistance also plays an instrumental role. Researchers from the University of Zurich demonstrate that mutated genes lead to defects in the tooth enamel and can therefore encourage the development of caries.

Why do some people develop caries even though they always brush their teeth carefully while others are less stringent regarding dental hygiene yet do not have any holes? Ultimately, both have bacteria on the surface of their teeth which can attack the enamel. Enamel forms via the mineralization of specific enamel proteins. If the outer layer of the teeth is defective, tooth decay can strike.

Researchers from the University of Zurich have now pinpointed a gene complex for the first time that is responsible for the formation of tooth enamel. Two teams from the Centre of Dental Medicine and the Institute of Molecular Life Sciences used mice with varying mutations of the enamel proteins involved in the so-called Wnt signaling pathway. Thanks to this transmission route, human and animal cells respond to external signals and specifically activate selected genes in the cell nucleus. The signaling pathway is essential for embryonal development and also plays a pivotal role in the development of cancer or physical malformations.

Mutations in proteins trigger defective tooth enamel

"All mice with mutations in these proteins exhibit teeth with enamel defects," explains Pierfrancesco Pagella, one of the study's two first authors. "Therefore, we demonstrated that there is a direct link between mutations in the genetic blueprints for these proteins and the development of tooth enamel defects." This genetic discovery goes a long way towards improving our understanding of the production of tooth enamel.

The team of researchers was the first in the world to use modern genetic, molecular and biochemical methods to study tooth enamel defects in detail. "We discovered that three particular proteins involved in the Wnt signaling pathway aren't just involved in the development of severe illnesses, but also in the qualitative refinement of highly developed tissue," says co-first author Claudio Cant from the molecular biologist research group lead by Prof. Konrad Basler. "If the signal transmission isn't working properly, the structure of the tooth enamel can change."

Increased risk of caries with defective tooth enamel

The hardness and composition of the tooth enamel can affect the progression of caries. "We revealed that tooth decay isn't just linked to bacteria, but also the tooth's resistance," says Thimios Mitsiadis, Professor of Oral Biology at the Center of Dental Medicine. Bacteria and their toxic products can easily penetrate enamel with a less stable structure, which leads to carious lesions, even if oral hygiene is maintained.

Understanding the molecular-biological connections of tooth enamel development and the impact of mutations that lead to enamel defects opens up new possibilities for the prevention of caries. "New products that hinder the progress of tooth caries in the event of defective tooth enamel will enable us to improve the dental health of patients considerably," adds Mitsiadis.

Explore further: Hair proteins are important in tooth enamel structure

More information: C. Cant, P. Pagella, T. D. Shajiei, D. Zimmerli, T. Valenta, G. Hausmann, K. Basler and T. A. Mitsiadis. A cytoplasmic role of Wnt--catenin transcriptional cofactors in tooth enamel formation. Science Signaling. February 7, 2017. DOI: 10.1126/scisignal.aah4598

Tooth decay is one of the most common chronic diseases worldwide. While oral hygiene and dietary choices promote tooth decay, genetics are also a factor in cavity formation.

Today at the 93rd General Session and Exhibition of the International Association for Dental Research, researcher Olivier Duverger, National Institutes of Health-National Institute of Neurological Disorders and Stroke, Bethesda, ...

A new study has revealed that children's teeth are protected from damage during chewing by variation in enamel thickness along the tooth row.

Today, the International and American Associations for Dental Research (IADR/AADR) published an innovative developmental biology study by lead researcher Bernhard Ganss, University of Toronto, ON, Canada, that relates amelotin ...

Bacteria are not the sole cause of caries; tooth resistance also plays an instrumental role. Researchers from the University of Zurich demonstrate that mutated genes lead to defects in the tooth enamel and can therefore encourage ...

A new method of stimulating the renewal of living stem cells in tooth pulp using an Alzheimer's drug has been discovered by a team of researchers at King's College London.

A world-first vaccine developed by Melbourne scientists, which could eliminate or at least reduce the need for surgery and antibiotics for severe gum disease, has been validated by research published this weekend in a leading ...

Being struck by Cupid's arrow can be good for your teeth.

Researchers have developed computer simulations showing how lasers attack oral bacterial colonies, suggesting that benefits of using lasers in oral debridement include killing bacteria and promoting better dental health.

For decades, research has suggested a link between oral health and inflammatory diseases affecting the entire bodyin particular, heart attacks and strokes.

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Severe newborn jaundice could be preventable, mouse study shows Science Daily To better understand UGT1A1's role in human newborns, Tukey's collaborator and senior author Shujuan Chen, PhD, assistant professor of pharmacology at UC San Diego School of Medicine, replaced the native UGT1A1 gene in mice with the human ... and more »

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Severe newborn jaundice could be preventable, mouse study shows - Science Daily

Gene therapy delivered by a benign virus enabled deaf lab mice to hear for the first time, researchers said Monday, offering hope for people with genetic hearing impairments.

The breakthrough could pave the way for gene-based treatments, they reported in two studies, published in Nature Biotechnology.

"With more than 100 genes already known to cause deafness in humans, there are many patients who may eventually benefit from this technology," said Konstantina Stankovic, a professor at Harvard Medical School.

Genetic hearing disorders affect some 125 million people worldwide, according to the World Health Organization.

An expert not involved in the research welcomed the findings as "very encouraging", but cautioned the technique has yet to be proven safe, and that human trials are likely years away.

In the first study, Stankovic and colleagues used a harmless virus to transport -- deep into the mouse ear -- a gene that can fix a specific form of hereditary deafness.

Previous attempts had failed, but this time the viral package was delivered to the right address: the so-called outer hair cells that "tune" the inner ear to sound waves.

"Outer hair cells amplify sound, allowing inner hair cells to send a stronger signal to the brain," explained Gwenaelle Geleoc, a researcher at the F.M. Kirby Neurobiology Center at Boston Children's Hospital.

The technique bestowed hearing and balance "to a level that's never been achieved before," she said in a statement.

"Now you can whisper, and the mice can hear you."

In the second study, a team led by Geleoc used the same viral courier to treat mice with a mutated gene responsible for Usher syndrome, a rare childhood genetic disease that causes deafness, loss of balance, and in some cases blindness.

The virus carried a normal version of the same gene to damaged ear hair cells soon after the mice were born.

- Narrow time window -

The results far exceeded anything to date: 19 of 25 treated mice heard sounds quieter than 80 decibels. Normal human conversation is about 70 decibels.

A few of the mice could hear sounds as soft as 25 to 30 decibels -- roughly equivalent to whispering.

According to Margaret Kenna, a specialist in genetic hearing loss at Boston Children's Hospital not involved in the studies, "cochlear implants are great, but your own hearing is better."

Electronic implants work by bypassing damaged hair cells in the ear to send sound signals directly to the brain.

"Anything that could stabilise or improve native hearing at an early age would give a huge boost to a child's ability to learn and use spoken language," she said.

The need for early intervention, however, could be a problem in itself, other experts pointed out.

In humans, such an intervention would ideally have to happen before a child is born, said Jonathan Ashmore, a professor at University College London's Ear Institute.

Alan Boyd, president of Britain's Faculty of Pharmaceutical Medicine hailed "a very encouraging result".

"But it is only a mouse model," he cautioned, noting that it is still unknown how the human immune system might react.

Any gene deafness treatment is "at least three years away, if not more," Boyd conjectured.

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Gene therapy allows deaf mice to hear: study - Yahoo News

FDA grants Cellectis IND approval to proceed with the clinical development of UCART123, the first gene edited off-the-shelf CAR T-Cell product candidate developed in the U.S.

Cellectis, a biopharmaceutical company focused on developing immunotherapies based on gene edited CAR T-cells (UCART), has received an Investigational New Drug (IND) approval from the U.S. Food and Drug Administration (FDA) to conduct Phase 1 clinical trials with UCART123, the companys most advanced, wholly owned Talengene-edited product candidate, in patients with acute myeloid leukemia (AML) and blastic plasmacytoid dendritic cell neoplasm (BPDCN).

This marks the first allogeneic, off-the-shelf gene-edited CAR T-cell product candidate that the FDA has approved for clinical trials. Cellectis intends to initiate Phase 1 trials in the first half of 2017.

UCART123 is a gene-edited T-cell investigational drug that targets CD123, an antigen expressed at the surface of leukemic cells in AML, tumoral cells in BPDCN. The clinical research for AML will be led, at Weill Cornell, by principal investigator Dr. Gail J. Roboz, Director of the Clinical and Translational Leukemia Programs and Professor of Medicine. The UCART123 clinical program for BPDCN will be led, at the MD Anderson Cancer Center, by Dr. Naveen Pemmaraju, M.D., assistant professor, and Professor Hagop Kantarjian, M.D., department chair, Department of Leukemia, Division of Cancer Medicine.

AML is a devastating clonal hematopoietic stem cell neoplasm that is characterized by uncontrolled proliferation and accumulation of leukemic blasts in bone marrow, peripheral blood and, occasionally, in other tissues. These cells disrupt normal hematopoiesis and rapidly cause bone marrow failure and death. In the U.S. alone, there are an estimated 19,950 new AML cases per year, with 10,430 estimated deaths per year.

BPDCN is a very rare and aggressive hematological malignancy that is derived from plasmacytoid dendritic cell precursors. BPDCN is a disease of bone marrow and blood cells but also often affects skin and lymph nodes.

The FDAs approval of Cellectis UCART123 the first off-the-shelf CAR T-cell product candidate to enter clinical trials in the U.S. is a major milestone not only for the company but also for the medical community, global biotech and pharmaceutical industries at large, said Dr. Loan Hoang-Sayag, Cellectis chief medical officer. Cellectis allogeneic UCART products have the potential to create an important shift with regard to availability, and cost-effectiveness, to make these therapies widely accessible to patient population across the world.

After the National Institutes of Health's Recombinant DNA Advisory Committee (RAC)s unanimous approval of two Phase 1 study protocols for Cellectis UCART123 in December 2016, the FDAs approval of Cellectis IND is a new major regulatory milestone achieved, for having UCART123 proceed into clinical development and reaching cancer patients in need, added Stephan Reynier, chief regulatory and compliance officer, Cellectis.

Information about ongoing clinical trials are publically available on dedicated websites such as: http://www.clinicaltrials.govin the U.S. http://www.clinicaltrialsregister.euin Europe.

(Source: Business Wire)

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A US First: Gene Edited Off-the-Shelf CAR T-Cell Product Candidate - Pharmaceutical Processing

An orthopedist orders special testing to determine if an elder patient with right hip pain which limits walking and driving might need surgery to improve their quality of life.

Physicians are rigorously trained to make decisions in the best interest of their patients. Even after medical school and residency, doctors must follow the challenges of evidence-based medicine, standard of care, peer review, and muster the time for continuing medical education and certification.

Doctrors are not only held accountable by their peers, but also legally as they could be subject to lawsuits. Additionally, state licensing agencies overseeing medical professionals can discipline them should they not practice medicine up to the standards of quality medical decision-making.

However, what if the teens pediatrician feels hospitalization is acutely needed for mental illness, but it is denied by the insurance company? What if the Workers Comp physician orders an MRI for the powerline workers ailing right arm, but it is denied? Or, if special testing to evaluate grandmas worsening mobility and pain is turned down by the HMO? Who is held accountable?

To justify requests for specific patient care, physicians are forced to have Peer-to-Peer phone discussions with doctors employed by insurance companies, Workers Comp, and HMOs. Frequently, these conversations result in denial of further care without medical justification. A controversial question arises: Are denials by these company doctors considered a medical decision?

They are not. These decisions are considered utilization review. What does this mean? They are making decisions based on controlling costs, which is in the financial interest of the for-profit agencies they serve, but not necessarily in the best interest of the patient. Even though they are licensed doctors practicing medicine, their role in patient care is under the guise of utilization review, and therefore not under the scrutiny of state licensing agencies.

What if these physicians deny care because they are incentivized to enhance personal bonuses? More so, what if some are making decisions outside the realm of their medical expertise (e.g. a urologist on a diabetic)? Who holds these physicians accountable for moral transgressions, or lack of judgement?

In California, we have a Medical Board which oversees licensing for all state physicians. If you report a licensed physician for making substandard medical decisions, an investigation ensues. If though the doctor is employed by an insurance company, Workers Comp, or HMO and makes denial decisions on their behalf, it is considered utilization review and they are not held accountable.

I do not pretend to understand every law and rule governing the Medical Board. But these companies have created legal barriers protecting doctors who might make substandard medical decisions.

Many physicians continue to fight for patient care rights despite frustration and helplessness of ongoing phone calls and paperwork they face. Yet substandard medical care will hamper their efforts as laws are manipulated and oversight is negligible.

Making medical decisions has never been easy. Assuring accountability makes it even harder.

Gene Uzawa Dorio, M.D.

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Dr. Gene Dorio: Making Medical Decisions Without Accountability - KHTS Radio

BOSTON, Feb. 6, 2017 /PRNewswire-USNewswire/ -- In the summer of 2015, a team at Boston Children's Hospital and Harvard Medical School reported restoring rudimentary hearing in genetically deaf mice using gene therapy. Now the Boston Children's research team reports restoring a much higher level of hearing down to 25 decibels, the equivalent of a whisper using an improved gene therapy vector developed at Massachusetts Eye and Ear.

The new vector and the mouse studies are described in two back-to-back papers in Nature Biotechnology (published online February 6).

While previous vectors have only been able to penetrate the cochlea's inner hair cells, the first Nature Biotechnology study showed that a new synthetic vector, Anc80, safely transferred genes to the hard-to-reach outer hair cells when introduced into the cochlea (see images). This study's three Harvard Medical School senior investigators were Jeffrey R. Holt PhD, of Boston Children's Hospital; Konstantina Stankovic, MD, PhD,of Mass. Eye and Ear and Luk H. Vandenberghe, PhD, who led Anc80's development in 2015 at Mass. Eye and Ear's Grousbeck Gene Therapy Center.

"We have shown that Anc80 works remarkably well in terms of infecting cells of interest in the inner ear," says Stankovic,an otologic surgeon at Mass. Eye and Ear and associate professor of otolaryngology at Harvard Medical School. "With more than 100 genes already known to cause deafness in humans, there are many patients who may eventually benefit from this technology."

The second study, led by Gwenalle Gloc, PhD, of the Department of Otolaryngology and F.M. Kirby Neurobiology Center at Boston Children's, used Anc80 to deliver a specific corrected gene in a mouse model of Usher syndrome, the most common genetic form of deaf-blindness that also impairs balance function.

"This strategy is the most effective one we've tested," Gloc says. "Outer hair cells amplify sound, allowing inner hair cells to send a stronger signal to the brain. We now have a system that works well and rescues auditory and vestibular function to a level that's never been achieved before."

Ushering in gene therapy for deafness

Gloc and colleagues at Boston Children's Hospital studied mice with a mutation in Ush1c, the same mutation that causes Usher type 1c in humans. The mutation causes a protein called harmonin to be nonfunctional. As a result, the sensory hair cell bundles that receive sound and signal the brain deteriorate and become disorganized, leading to profound hearing loss.

When a corrected Ush1c gene was introduced into the inner ears of the mice, the inner and outer hair cells in the cochlea began to produce normal full-length harmonin. The hair cells formed normal bundles (see images) that responded to sound waves and signaled the brain, as measured by electrical recordings.

Most importantly, deaf mice treated soon after birth began to hear. Gloc and colleagues showed this first in a "startle box," which detects whether a mouse jumps in response to sudden loud sounds. When they next measured responses in the auditory regions of the brain, a more sensitive test, the mice responded to much quieter sounds: 19 of 25 mice heard sounds quieter than 80 decibels, and a few could heard sounds as soft as 25-30 decibels, like normal mice.

"Now, you can whisper, and they can hear you," says Gloc, also an assistant professor of otolaryngology at Harvard Medical School.

Margaret Kenna, MD, MPH, a specialist in genetic hearing loss at Boston Children's who does research on Usher syndrome, is excited about the work. "Anything that could stabilize or improve native hearing at an early age would give a huge boost to a child's ability to learn and use spoken language," she says. "Cochlear implants are great, but your own hearing is better in terms of range of frequencies, nuance for hearing voices, music and background noise, and figuring out which direction a sound is coming from. In addition, the improvement in balance could translate to better and safer mobility for Usher Syndrome patients."

Restoring balance and potentially vision

Since patients (and mice) with Usher 1c also have balance problems caused by hair-cell damage in the vestibular organs, the researchers also tested whether gene therapy restored balance. It did, eliminating the erratic movements of mice with vestibular dysfunction (see images) and, in another test, enabled the mice to stay on a rotating rod for longer periods without falling off.

Further work is needed before the technology can be brought to patients. One caveat is that the mice were treated right after birth; hearing and balance were not restored when gene therapy was delayed 10-12 days. The researchers will do further studies to determine the reasons for this. However, when treated early, the effects persisted for at least six months, with only a slight decline between 6 weeks and 3 months. The researchers also hope to test gene therapy in larger animals, and plan to develop novel therapies for other forms of genetic hearing loss.

Usher syndrome also causes blindness by causing the light-sensing cells in the retina to gradually deteriorate. Although these studies did not test for vision restoration, gene therapy in the eye is already starting to be done for other disorders.

"We already know the vector works in the retina," says Gloc, "and because deterioration is slower in the retina, there is a longer window for treatment."

"Progress in gene therapy for blindness is much further along than for hearing, and I believe our studies take an important step toward unlocking a future of hearing gene therapy," says Vandenberghe, also an assistant professor of ophthalmology at Harvard Medical School. "In the case of Usher syndrome, combining both approaches to ultimately treat both the blinding and hearing aspects of disease is very compelling, and something we hope to work toward."

"This is a landmark study," says Holt, director of otolaryngology research at Boston Children's Hospital, who was also a co-author on the second paper. "Here we show, for the first time, that by delivering the correct gene sequence to a large number of sensory cells in the ear, we can restore both hearing and balance to near-normal levels."

Bifeng Pan,Charles Askew and Alice Galvin of Boston Children's were co-first authors on the study led by Gloc. Lukas Landegger of Mass. Eye and Ear, Pan, and Askew were co-first authors on the study of the vector. The work was supported by the Bertarelli Foundation, the Kidz-b-Kidz Foundation, the Foundation Fighting Blindness, the Jeff and Kimberly Barber Gene Therapy Research Fund and the Manton Center for Orphan Disease Research at Boston Children's Hospital. Luk Vandenberghe is an inventor on Anc80 (patent #WO/2015/054653) and other gene transfer technologies, for which he receives royalties. These technologies are licensed to several gene therapy companies, some of which fund research in Vandenberghe's laboratory (Selecta Biosciences and Lonza Houston).

About Boston Children's Hospital Boston Children's Hospitalis home to the world's largest research enterprise based at a pediatric medical center, where its discoveries have benefited both children and adults since 1869. More than 1,100 scientists, including sevenmembers of the National Academy of Sciences,11members of the Institute of Medicine and10members of the Howard Hughes Medical Institute comprise Boston Children's research community. Founded as a 20-bed hospital for children, Boston Children's today is a 404-bed comprehensive center for pediatric and adolescent health care. Boston Children's is also the primary pediatric teaching affiliate of Harvard Medical School.For more, visit ourVector and Thriving blogsand follow us @BostonChildrens , @BCH_Innovation , FacebookandYouTube .

About Massachusetts Eye and Ear Mass. Eye and Ear clinicians and scientists are driven by a mission to find cures for blindness, deafness and diseases of the head and neck. Now united with Schepens Eye Research Institute, Mass. Eye and Ear is the world's largest vision and hearing research center, developing new treatments and cures through discovery and innovation. Mass. Eye and Ear is a Harvard Medical School teaching hospital and trains future medical leaders in ophthalmology and otolaryngology, through residency as well as clinical and research fellowships. Internationally acclaimed since its founding in 1824, Mass. Eye and Ear employs full-time, board-certified physicians who offer high-quality and affordable specialty care that ranges from the routine to the very complex. In the 20162017 "Best Hospitals Survey," U.S. News & World Report ranked Mass. Eye and Ear #1 in the nation for ear, nose and throat care and #1 in the New England for eye care. For more information about life-changing care and research, or to learn how you can help, please visit MassEyeAndEar.org.

CONTACTS: Bethany Tripp Boston Children's Hospital 617-919-3110 bethany.tripp@childrens.harvard.edu

Suzanne Day Mass. Eye and Ear 617-573-3897 Suzanne_Day@meei.harvard.edu

To view the original version on PR Newswire, visit:http://www.prnewswire.com/news-releases/gene-therapy-restores-hearing-in-deaf-mice-down-to-a-whisper-300401622.html

SOURCE Boston Children's Hospital

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Gene therapy restores hearing in deaf mice down to a whisper - Yahoo News

On a wet Wednesday morning Im reading a glossy, A3-sized health report that promises to unpack the secrets of my DNA. It informs me that Im twice as likely to get heart disease as the average person. How cheery: Im in my mid-30s and have so far had a reasonably clean bill of health, so seeing those words makes my stomach drop. As far as I can recall there isnt any family history of heart disease. The only relief is that my chances of dying from sudden cardiac arrest or Alzheimers are normal.

This insight into my health is the result of a new DNA test from Pure Genetic Lifestyle. Promising a 99.97 per cent accurate test process, it sets itself apart from the myriad other DNA tests available but will set you back 1,300. The process is simple: you fill out a health questionnaire and post three mouth swabs to Holland. Within four weeks you receive an elegant-looking book that promises revelations about your body.

Pure Genetic Lifestyle

Heart disease aside, my results are riveting: as well as assessing my risks of illness and how to minimise them the report describes which foods will make me put on weight; the sports that I should be naturally good at; even the medicines my body can utilise and the ones I wont be able to break down. Such tests herald a revolution in our understanding of health, but first things first. What is DNA, exactly?

Deoxyribonucleic acid (DNA) contains the genetic blueprint that tells our cells how to grow and function. It is shaped in two strands that wrap around each other in a double-helix (famously discovered by Watson and Crick). DNA is made up of four basic building blocks, known as bases. The sequence of these bases determines our genetic makeup, containing enough information to make a particular protein that is called a gene. We have some 20,000 genes. Pure Genetic Lifestyle says it tests the 427 genes that commonly contain faults which increase your risk of disease and where the risks can be mitigated by lifestyle changes. It does not analyse the genes whose effects you can do nothing about.

Still, it isnt every day I learn I may be heading toward heart disease. Is a twice higher than average risk bad? Ethically, we cannot do more than give you a comparison to the average risk, explains the companys founder Maarten van Dijk, a remarkably tall and hearty Dutchman who previously ran Hollands premier health and beauty spa, Elysium. If, for example, you are 85 years old, your risk of Alzheimers is already one in five. You may well not wish to know that. The results we give are not about scaring people, they are about encouraging people to change their lives and be well.

Now that Ive been told my risk factor, I will do my best to follow the heart-related advice, but I suspect it will prove easy to stick to the bits I already do exercise, eat healthily, dont smoke but Ill struggle to keep alcohol down to one drink a day. Perhaps more achievable are recommendations related to other health risks to check my breasts for lumps, and to switch up the amount of impact sport I do (my risk of osteoporosis was also double the norm). But the advice all seems quite generic.

I asked Dr Daniel Wallerstorfer, the Austrian epigeneticist who developed the Pure Genetic Lifestyle programme, for some more bespoke examples. The test might discover you have a gene for haemochromatosis. This is a disorder where your body absorbs too much iron, which, over time, can lead to liver cirrhosis. If the test tells you that you are at risk, it may be that giving blood regularly will bring your iron levels down, and save you from a potentially life-threatening disease, he says.

We began doing these tests thinking in terms of disease-prevention, he continues. But, in fact, weight-management is a far more popular use for them than not dying of a disease. Knowing your genetic predisposition to burn fat, or your bodys ability to break down carbs, can enable you to determine a diet that may be terrifically more effective. Clients following the Pure Genetic Lifestyle nutrition programme lost more than double the control group.

The nutritional element of the test also cross-references a long list of foods with some 40 factors (how well you break down mercury, how much you need antioxidants to avoid various illnesses, whether you are at risk of heart disease from cholesterol etc) to determine your optimal diet. My results suggest that I should take extra magnesium, as I have a larger than average genetic requirement, and drink low-fat milk to reduce the risk for my heart. My body seems to break down most medicine normally, including antibiotics.

The 1,300 DNA test that could save your life - Credit: Illustrations: Tommy Parker

How much, though, can these results and their interpretations be trusted? My feelings are mixed, says Stephen Jones, emeritus professor of human genetics at University College London. There are certain cases where genetic tests are tremendously beneficial. Take hypercholesterolaemia. It is an inherited, genetic condition in which your body cannot break down bad cholesterol. If one person has it, you can test their family to assess who has the genetic risk, and give them advice that may be live-saving.

Using genetic tests as a first line of health investigation will eventually be the norm, but we do not have sufficient knowledge to do it yet, Jones adds. Dr Sharon Moalem, a geneticist and bestselling author of Survival of the Sickest (about how some illnesses confer an evolutionary advantage), agrees. I have a lot of hesitation, he tells me over the phone from New York. There are too many claims being made, too soon.

We know that identical twins, with the same genomes, have different health patterns. The epigenetics, the environment in which your genes function, are tremendously important, Moalem adds. He also points out the hazards of testing: If you take a genetic test and find you are at higher risk of something serious, an insurance company can discriminate. A client of mine found a certain gene variant which meant his whole family lost their medical insurance. While that would be concerning in the UK, it could mean disaster in the States.

To this end, Moalems new book The Gene Restart suggests simple tests that can be done at home as an insight into losing weight. If you chew a water biscuit, for some people the taste turns sweet. Those people have the genetic ability to break down carbohydrates and burn up their energy. If it doesnt turn sweet, you may be wise to lay off potatoes. After speaking to Moalem, I was mindful of writing this article and sharing my data. However, I had been lucky with my results. I am, though, taking them with a pinch of scepticism.

I put the recommendation for me to eat low-fat dairy and vegetable oils to Karen Alexander, a nutritional therapist at Wild Nutrition. This is archaic advice: corn oil can be very inflammatory and bad for the heart. Also, rather than low-fat milk, it would be far better to have a small amount of full fat. When I talked about the test with one friend, he told me he sent off for one because there is a lot of cancer in his family. When he got an apparent genetic All clear, he went back to smoking.

That is lethal, comments Jones. If he responds like that, the worst thing he ever did was to take that test. Worse still if he went for a test like 23andMes, whose accuracy is around 65 per cent, and which in 2013 was banned from giving patients health reports by the US Food and Drug Administration as the reports were deemed unreliable. This year, it relaunched in the States with wellness data, but not the genetic risk factors of its original UK test.

Writing this article has made me promise myself I will learn how to check my breasts, and be sure to read up on osteoporosis. The real revelation was not about me, but about where genetic medicine is heading. I ask Wallerstorfer about the future of genetic medicine. He jokes that he knows his own future: if he has children with his girlfriend, because of his ginger gene every second child will be strawberry blond.

More seriously, he adds that by 2050, I think we will test children at birth, you will be able to alter their risk of genetic diseases at that time and then bring them up with the ultimate nutrition and exercise programmes for their genes. For the moment, though, unless you have plenty of money to throw around, you may be better off taking regular exercise, drinking less, eating well and maybe investing 80p in some water biscuits.

The Pure Genetic Lifestyle test costs 450 for a fullPharma, Nutrition and Weighttest, and 1,365 for the book;puregeneticlifestyle.com .

Mood boosters

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Would you take a new 1300 DNA test that could save your life? - Yahoo News

It sounds like a godsend for America's opioid epidemic: genetic tests that can predict how a patient will respond to narcotic painkillers, as well as an individual's risk of misuse, addiction, and potentially deadly side effects.

Proove Biosciences of Irvine, Calif., claims its "opioid response" and "opioid risk" tests are the only precision medicine tools on the market to do all that, giving doctors information "to guide opioid selection and dosage decisions as well as treat side effects."

But while the concept is captivating, addiction researchers say it is not yet possible to use genetic variation to gauge the risk of drug abuse. And ECRI Institute, a Plymouth Meeting nonprofit center that evaluates medical technology, says Proove has not published independently reviewed studies to support its claims.

"We cant say it doesnt work. All we can say is, theres no evidence it does," said ECRI research analyst Jeff Oristaglio.

In an interview, Proove CEO Brian Meshkin defended his five-year-old products, which he said retail for $1,000 a test and were used by about 400 doctors last year in treating 50,000 patients. He said he expects scientific journals to publish results from studies "within the next six months." Three clinical trials of the opioid response test are ongoing.

Consumers may assume that such high-tech genetic tests have to demonstrate safety and effectiveness to win regulatory approval, but they do not. Even though these complex diagnostics use the latest gene-sequencing and data-crunching techniques, they can come to market under 1988 federal regulations designed to ensure the quality of clinical laboratories.

Two years ago, the U.S. Food and Drug Administration proposed a new framework for overseeing "lab-developed tests" that would take into account their complexity and riskiness, because inaccurate or false results can harm patients. But the agency withdrew the controversial proposal after the November election, saying it needed "to continue to work with stakeholders, our new administration, and Congress."

Proove is one of many companies in the fast-growing genetic-susceptibility testing market, a multi-billion industry built on trying to foresee and thus, forestall disease, disability, and death.

Opioid-related deaths have become an urgent public-health crisis. Every day, on average, 3,900 people start abusing prescription painkillers, 580 graduate to cheaper heroin, and 78 die of a narcotic overdose, according to federal data.

In theory, genetics provides an opportunity to reduce this toll. Researchers have linked a predisposition to opioid dependency to gene variants involved in the brain's signaling of reward and pleasure. Addictive behavior, particularly alcohol abuse, is known to run in families.

But addiction experts say risky behavior involves the largely unpredictable interplay of environmental, cultural, and biological factors.

"It is hard to conceive of a genetic test or a genetic score that would be valuable as a predictor of opiate abuse or addiction in general," said Michael Vanyukov, a University of Pittsburgh professor of pharmaceutical sciences, psychiatry and human genetics.

Vanyukov, who wasn't familiar with Proove's products, said heredity plays a relatively small role in determining variation in addiction risk, while choices and perceptions can play a big role. "If the individual is informed of, say, a 'low' risk score, this very piece of information will change the risk. The error of a genetic score is likely to be great, and reliance on it in practice may be dangerous."

Psychiatrist Charles OBrien, founding director of the University of Pennsylvania's Center for Studies of Addiction, was also unfamiliar with Proove's test, but echoed that sentiment: "I could not in good conscience recommend that someone spend money on these tests."

O'Brien's own center recently identified gene variants associated with response to naltrexone, a drug that blocks the intoxicating effects of alcohol. But when the center studied alcoholics on naltrexone, strong and weak responders had the same number of heavy drinking days.

"We were very disappointed because we're all looking for precision medicine," O'Brien said.

Proove's tests analyze DNA from a cheek swab. The opioid risk test gives the patient a score low, moderate, or high risk of opioid abuse that is based on detecting variants in 12 genes, combined with clinical information such as a history of depression. The company's website claims the algorithm is 93 percent accurate.

But when ECRI scientists looked to validate that claim, all they could find were brief summaries of two studies that the company presented at medical conferences. One studyof 290 patients compared the Proove risk test with the "opioid risk tool," a standard, one-minute screening questionnaire that doctors use to ask chronic pain patients about risk factors such as a history of mental illness or substance abuse.

"We cannot determine ... whether the test performs better or worse than the opioid risk tool in predicting opioid misuse," ECRI concluded.

Insurance plans either consider Proove's tests unnecessary or have no specific policies, ECRI found, although Meshkin said insurers are covering the cost "on a case-by-case basis."

"At some point, you've got to stop and produce the evidence if you want people to pay," said Diane Robertson, director of ECRI's health technology assessment service. "Why would anyone want to use something if there is no evidence that it has benefit?"

Published: February 6, 2017 10:09 AM EST The Philadelphia Inquirer

Read more here:
Genetic test to predict opioid risk lacks proof, experts say - Philly.com

But the 49-year-old, who had pursued a career in football before joining the world of science, was not one to be deterred. Born in Londons East End into a single-parent, working-class family, his journey into the fields of science, academia and business has been anything but conventional. When my mother fell pregnant with me my father was on the run from prison, he says.

There had been 10 years of investment in this editing tool we bought and when we got the IP we went around to all the universities who had used it over the past decade and made models and offered them a route to selling those models, in return for a nice royalty payment, he says.

Within weeks, Horizon started selling these genetically engineered cell lines and in the first year made $500,000 in revenue and turned a profit. In 2009, sales rose to $1.2m.

At that point we started getting real interest because sequencing costs had come down even more and we were doing well in a recession, Disley recalls. That led to further investment. Companies such as Genentech, later acquired by Roche, put in 1m, existing investors stumped up more cash, and venture capital flowed in.

See more here:
How gene editing is revolutionising the pharmaceuticals industry - Telegraph.co.uk