StemCell Therapy

Clinical genetics experts see value in testing more women for BRCA mutations.

Two widely tested cancer-predisposition genes areBRCA1andBRCA2. Certain inherited mutations in these genes are known to greatly increase the risk of developing several types of cancer, includingbreast,ovarian,prostate, andpancreaticcancers. Genetic testing for BRCA mutations can identify people who may benefit from risk-reduction surgery, like a mastectomy; preventive medications; or targeted therapies.

But there is a huge catch: Commercial testing kits, like the one from 23andMe authorized by the US Food and Drug Administration, test for only the three most common BRCA mutations known to run in families of Ashkenazi Jewish ancestry. Someone could test negative for these specific mutations and still be at risk for cancer from other BRCA mutations that arent included in the test. This false sense of security might dissuade someone from finding out the full extent of their cancer risk.

This is just one of the many reasons why doctors typically recommend that genetic testing be done under the guidance of a clinical genetics expert who can test for more than the most common BRCA mutations and help explain the results. Even then, questions remain about who should have testing.

What the Experts SayCurrently, doctors refer someone for genetic testing if they meet various clinical criteria, like having a family history of cancer or being diagnosed with certain cancers at a young age. But there is evidence that by limiting testing to just these individuals, some people with a BRCA mutation will be missed.

We know from our data at Memorial Sloan Kettering that if you only test people with strong family histories, you miss half the cases, saysLarry Norton, Senior Vice President in the Office of the President and Medical Director of the Evelyn H. Lauder Breast Center at MSK.

Between those with a family history and the entire US population is a large unmapped territory. Just 0.3% of the population (one in 300 individuals) has a dangerous BRCA mutation. Its not clear how to step up testing in a logical and efficient manner to capture those who are at risk.

But testing guidelines are indeed becoming moreinclusive. In August, the US Preventive Services Task Force, an independent panel of health experts, issued updated BRCA testing recommendations. In addition to women with a known family history of breast or ovarian cancer, the updated recommendations include two additional groups: women who previously had breast or ovarian cancer and are now considered cancer free and women of an ancestry known to be at a higher risk, such as Ashkenazi Jewish women.One in 40 individuals of Ashkenazi Jewish ancestry (2.5%) have a harmful BRCA mutation. The updated recommendations were published August 20 in theJournal of the American Medical Association.

In anaccompanying editorial,Mark Robson, Chief of the Breast Medicine Service at MSK, and Susan Domcheck from the University of Pennsylvania, call the addition of women with prior breast and ovarian cancer an important step forward and applaud the decision to include ancestry as a reason for testing.

Identification of individuals at risk of carrying aBRCA1/2mutation can be lifesaving and should be a part of routine medical care, they write.

Low Uptake, Risks of OvertestingEven as testing guidelines are becoming broader, there is evidence that people who are good candidates for testing are not currently availing themselves of it. For example, approximately 15% of women with epithelial ovarian cancer have aBRCA1/2mutation. Given this high frequency, experts recommend testing for all people with ovarian cancer. But that doesnt happen: Less than 30% of such women are actually tested. The numbers are even lower for underrepresented minorities and those from a low socioeconomic background.

On the flip side, Dr. Robson and his co-author caution that there are dangers to overtesting, especially when the tests in question are large multigene panels that can include up to 80 genes.

While there may be value in expanding BRCAtesting, particularly in the Ashkenazi Jewish population, this does not automatically mean that this expansion should be conducted using multigene panel tests, they write.

MSK scientists, including a team led byKenneth Offit, Chief of the Clinical Genetics Service, are actively exploring the best and most strategically effective ways of testing. They are committed to making sure that the most beneficial testing is offered to the people who need it.

Information provided by MSK (Information) is not intended as a substitute for medical professional help or advice but is to be used only as an educational aid in understanding current medical knowledge. A physician should always be consulted for any health problem or medical condition. Use of the Information is further subject toMSKs Website Terms and Conditions.

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Who Should Be Tested for a BRCA Mutation? The Science Is Evolving - Curetoday.com

(MENAFN - The Peninsula) The legal and ethical implications of using stem cells and artificial intelligence (AI) in medicine were discussed at the latest instalment of Weill Cornell Medicine-Qatar's (WCM-Q) Intersection of Law & Medicine series.Expert speakers at the event discussed the impact of recent advances in stem cell science and AI on the practice of medicine in Qatar and explored how new legal frameworks could be developed to protect the rights and safety of patients in the MENA region. The day-long event was organized by WCM-Q in collaboration with Hamad Bin Khalifa University and the University of Malaya of Kuala Lumpur, Malaysia.Stem cells are an exciting area for medical researchers because they have the potential to repair damaged or diseased tissues in people with conditions such as Parkinson's disease, type 1 diabetes, stroke, cancer, and Alzheimer's disease, among many others. Stem cells can also be used by researchers to test new drugs for safety and effectiveness.WCM-Q's Dr. Amal Robay, WCM-Q assistant professor in genetic medicine and director of research compliance, said: 'Stem cells have the capacity for unlimited or prolonged self-renewal, and they can differentiate themselves into many different cell types to become tissue- or organ-specific cells with special functions. The central ethical dilemma of stem cell science arises from the fact that embryonic stem cells are derived from human embryos or by cloning, she explained.Visiting bioethics expert Dr. Jeremy Sugarman of Johns Hopkins University in Baltimore, US said that the public image of stem cell research had been damaged by a small number of high-profile cases in which scientists had behaved unethically. The field had also been hampered by different countries applying different laws to stem cell research, making international collaboration problematic, he said.Meanwhile, the use of AI in healthcare has the potential to leverage analysis of large amounts of data to improve patient outcomes, but poses ethical concerns regarding privacy, the diversity of data sources, biases and relying on non-human entities for potentially life-changing decisions.Dr. Barry Solaiman, assistant professor of law in the College of Law and Public Policy at HBKU said: 'It's very important that we bridge that gap between the professions of law and medicine, and that we understand the fundamental importance of ethicists to the advance of science. We need to consider how lawyers can help to develop laws to ensure that science advances and that it does so in ways that protect everyone involved.The event, which was co-directed by Dr. Solaiman and Dr. Thurayya Arayssi, professor of clinical medicine and senior associate dean for medical education and continuing professional development at WCM-Q, also featured other expert speakers.The event was accredited locally by the Qatar Council for Healthcare Practitioners-Accreditation Department (QCHP-AD) and internationally by the Accreditation Council for Continuing Medical Education (ACCME).

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Researchers from the University of California, Irvine developed a breakthrough cell therapy to improve memory and prevent seizures in mice following traumatic brain injury. The study, titled Transplanted interneurons improve memory precision after traumatic brain injury, was published today inNature Communications.

Traumatic brain injuries affect 2 million Americans each year and cause cell death and inflammation in the brain. People who experience a head injury often suffer from lifelong memory loss and can develop epilepsy.

In the study, the UCI team transplanted embryonic progenitor cells capable of generating inhibitory interneurons, a specific type of nerve cell that controls the activity of brain circuits, into the brains of mice with traumatic brain injury. They targeted the hippocampus, a brain region responsible for learning and memory.

The researchers discovered that the transplanted neurons migrated into the injury where they formed new connections with the injured brain cells and thrived long term. Within a month after treatment, the mice showed signs of memory improvement, such as being able to tell the difference between a box where they had an unpleasant experience from one where they did not. They were able to do this just as well as mice that never had a brain injury. The cell transplants also prevented the mice from developing epilepsy, which affected more than half of the mice who were not treated with new interneurons.

Inhibitory neurons are critically involved in many aspects of memory, and they are extremely vulnerable to dying after a brain injury, saidRobert Hunt, PhD, assistant professor of anatomy and neurobiology at UCI School of Medicine who led the study. While we cannot stop interneurons from dying, it was exciting to find that we can replace them and rebuild their circuits.

This is not the first time Hunt and his team has used interneuron transplantation therapy to restore memory in mice. In 2018, the UCI team used asimilar approach, delivered the same way but to newborn mice, to improve memory of mice with a genetic disorder.

Still, this was an exciting advance for the researchers. The idea to regrow neurons that die off after a brain injury is something that neuroscientists have been trying to do for a long time, Hunt said. But often, the transplanted cells dont survive, or they arent able to migrate or develop into functional neurons.

To further test their observations, Hunt and his team silenced the transplanted neurons with a drug, which caused the memory problems to return.

"It was exciting to see the animals memory problems come back after we silenced the transplanted cells, because it showed that the new neurons really were the reason for the memory improvement, said Bingyao Zhu, a junior specialist and first author of the study.

Currently, there are no treatments for people who experience a head injury. If the results in mice can be replicated in humans, it could have a tremendous impact for patients. The next step is to create interneurons from human stem cells.

So far, nobody has been able to convincingly create the same types of interneurons from human pluripotent stem cells, Hunt said. But I think were close to being able to do this.

Jisu Eom, an undergraduate researcher, also contributed to this study. Funding was provided by the National Institutes of Health.

Reference: Zhu, et al. (2019) Transplanted interneurons improve memory precision after traumatic brain injury. Nature Communications. DOI:https://doi.org/10.1038/s41467-019-13170-w

This article has been republished from the following materials. Note: material may have been edited for length and content. For further information, please contact the cited source.

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Cell Therapy Aims To Improve Memory and Prevent Seizures Following Traumatic Brain Injury - Technology Networks

On this we can all agree: The lifespan of a dog is far too short. The Dog Aging Project hopes to change that.Researchers are hoping to study a group of 10,000 dogs over the course of 10 years to see whether they can improve the life expectancy of canines and their overall quality of life.Dogs' lives are six to 12 times shorter than that of humans, according to a study by the Frontiers in Veterinary Science.The researchers, which include teams from the University of Washington School of Medicine and the Texas A&M University College of Veterinary Medicine & Biomedical Sciences, are being funded by the National Institute of Aging, a division the National Institutes of Health.The researchers' expertise comes from a wide range of fields and institutions. All together, it will be the largest-ever study on aging in dogs. But their scope expands far beyond: The researchers hope that the information they learn could eventually be applied to humans as well."Dogs truly are science's best friends," the research team told CNN in a joint statement. "Though they age more rapidly than humans, they get the same diseases of aging, have a rich genetic makeup, and share our environment.""By studying aging in dogs," they said, "we can more quickly expand our knowledge of aging not just in dogs but also in humans." They added that the group is hopeful that their discoveries could lead to better "prediction, diagnosis, prognosis, treatment and prevention of disease."Now accepting applicantsApplications to the project are officially open.Owners can visit the Dog Aging Project's website to nominate their pooch. The submission process takes less than 10 minutes, and generally consists of questions about your canine to help the researchers learn whether he or she is the right fit.Have more questions? Here's a helpful FAQ.Dogs from all 50 states, and of all ages, sizes and breeds may apply. The researchers will even consider dogs with chronic illnesses, hoping to include as much genetic diversity as possible.That will help them identify biological and environmental factors critical to improving overall health and lifespan.And humans -- your participation is welcome too."Dogs and their owners are the heart of the Dog Aging Project," the researchers said. "People who nominate a dog will have the opportunity to partner with our research team as a citizen scientist."Owners will be asked to fill out surveys about their dog's health and life experience, and sample the dog's saliva, too.

On this we can all agree: The lifespan of a dog is far too short. The Dog Aging Project hopes to change that.

Researchers are hoping to study a group of 10,000 dogs over the course of 10 years to see whether they can improve the life expectancy of canines and their overall quality of life.

Dogs' lives are six to 12 times shorter than that of humans, according to a study by the Frontiers in Veterinary Science.

The researchers, which include teams from the University of Washington School of Medicine and the Texas A&M University College of Veterinary Medicine & Biomedical Sciences, are being funded by the National Institute of Aging, a division the National Institutes of Health.

The researchers' expertise comes from a wide range of fields and institutions. All together, it will be the largest-ever study on aging in dogs. But their scope expands far beyond: The researchers hope that the information they learn could eventually be applied to humans as well.

"Dogs truly are science's best friends," the research team told CNN in a joint statement. "Though they age more rapidly than humans, they get the same diseases of aging, have a rich genetic makeup, and share our environment."

"By studying aging in dogs," they said, "we can more quickly expand our knowledge of aging not just in dogs but also in humans." They added that the group is hopeful that their discoveries could lead to better "prediction, diagnosis, prognosis, treatment and prevention of disease."

Applications to the project are officially open.

Owners can visit the Dog Aging Project's website to nominate their pooch. The submission process takes less than 10 minutes, and generally consists of questions about your canine to help the researchers learn whether he or she is the right fit.

Have more questions? Here's a helpful FAQ.

Dogs from all 50 states, and of all ages, sizes and breeds may apply. The researchers will even consider dogs with chronic illnesses, hoping to include as much genetic diversity as possible.

That will help them identify biological and environmental factors critical to improving overall health and lifespan.

And humans -- your participation is welcome too.

"Dogs and their owners are the heart of the Dog Aging Project," the researchers said. "People who nominate a dog will have the opportunity to partner with our research team as a citizen scientist."

Owners will be asked to fill out surveys about their dog's health and life experience, and sample the dog's saliva, too.

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Wanted: 10,000 dogs for the largest-ever study on aging in canines - WBAL Baltimore

Columnist Ben Maldonado traces the eugenicist history of Ray Lyman Wilbur. (Courtesy of Wikimedia Commons)

On Jan. 22, 1916, Ray Lyman Wilbur became the third president of Stanford University. In his inaugural speech, Wilbur promised that Stanford would aim for control of those unnecessary diseases that devour the very marrow of the [human] race and would lead in the fight against oppression, evil, ignorance, filth. These words would have perhaps been less ominous if Wilbur was not a eugenicist.

Between 1916 and 1929 and between 1933 and 1943, Ray Lyman Wilbur served as Stanfords president, leading the same university where he received his bachelors and masters degrees. A physician by training, Wilbur was influential in the development of Stanfords School of Medicine, first as dean then as university president. Wilburs key academic focus was public health: studying the health of America and methods of bettering it. This interest showed clearly in both his work at Stanford and in the Hoover Administration, where he served as Secretary of the Interior.

Wilburs interest in public health, however, also inspired his support of eugenics, the science of human improvement through selective breeding. As historian Martin S. Pernick has argued, public health and eugenics often historically went hand-in-hand what better way could there be of creating an ideal population than controlling who could reproduce and who could be born? Besides being a member of many health associations, Wilbur was also a prominent figure in eugenic organizations, such as the American Eugenics Society and the Eugenics Research Association, and often combined these two pursuits. As he put it in his 1937 article on the health of Black people, a pair of healthy grandfathers and of healthy grandmothers is the greatest personal asset a human being can have. In the name of public health, eugenic policies were therefore a necessity to Wilbur: We would not dream of treating a strain of race horses, he argued before Stanford alumni in 1935, the way we treat ourselves.

This emphasis on eugenics as a form of public health advocacy manifested in Wilburs work in the Hoover Administration as well. As historian Wendy Klein recounts, Wilbur served as conference chair at the 1930 White House Conference on Child Health and Protection, a massive convention attended by thousands of experts on child health, development and education. In his opening speech, Wilbur used eugenic language to emphasize the importance of fit future citizenry, encouraging the United States to become a fitter country in which to bring up children. Wilbur was not just supporting the health of children; he was supporting the goal of breeding eugenically fit children. As he put it in a 1913 speech, Wilbur believed that the products of the marriage of the weak and the unfit, of the criminal, of the syphilis and of the alcohol that fill many of our most splendid governmental buildings must largely disappear.

One of Wilburs greatest contributions to Stanford University as president was the development of the Stanford University School of Medicine, turning it into an organization at the forefront of medical education as well as eugenic education. Wilbur believed that all medical students should be taught the science of eugenics. He encouraged medical universities to study both the health and economic impact of the physically and mentally handicapped, promoting extensive research on eugenics. He presented before the Medical Society of the State of California in 1922, and argued that physicians must be educated to understand the importance of eugenically fit genetic material, for if it deteriorates a family or a race soon dies out. This genetic material must therefore be protected through eugenic means such as the sterilization or segregation of the unfit. With his development of the medical school, Wilbur aimed to emphasize the necessity of racial health in the name of eugenics.

Wilbur was also deeply concerned with race relations and the role of the United States in international affairs. In a 1926 speech, he expressed fear that white women were degenerating and becoming incapable of producing breast milk due to a reliance on dairy milk when nursing. For Wilbur, this was exceptionally frightening as the Chinese, who were immigrating to the American West (to the displeasure of many eugenicists) continued to use breast milk with their babies. Wilbur saw this as a eugenic threat to white dominance. If dairy production were to be halted, Chinese populations would overtake white populations a eugenicists nightmare.

Wilburs concerns with Chinese immigration led him to chair a 1923 survey looking into the potential dangers of Asian immigration into the American West. This Survey of Race Relations, as it was called, was led by many Stanford affiliates, and its findings were presented at a conference on Stanfords campus. Looking at both Chinese and Japanese immigration, this study chaired by Wilbur sought to objectively determine the value of allowing Asian immigrants to travel, stay, and reproduce in the United States. In the end, the survey concluded that Asian immigration was, for the time being, acceptable due to the cheap labor immigrants provided, but interracial marriages and reproduction were deeply discouraged. These attempts to objectively determine the value of immigrants to society was emblematic of a larger eugenic trend to quantify the value of human existence.

Wilburs belief in public health and the objective research of racial health inspired his promotion of eugenic thought. His legacy shows clearly the interconnections of medicine, public health and eugenic thought, and how many projects in the name of human health with noble intent were shaped by racist and ableist assumptions. Though he was less explicitly racist than some of his peers at Stanford, Wilbur still promoted the sterilization of unwanted people and still studied the potential dangers of non-white immigration. Today, Wilbur Hall bears his name, honoring his presidency and contributions to the University. I cannot help but wonder how many residents of that hall would be deemed unwelcome by its namesake.

Contact Ben Maldonado at bmaldona at stanford.edu.

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Eugenics on the Farm: Ray Lyman Wilbur - The Stanford Daily

The University of Vermont Health Network, along with partners Invitae and LunaPBC, launched a pilot project on November 1, to offer the Genomic DNA Test as part of its clinical care. The test will provide information for 147 genes that are indicators of increased risk for certain diseases including hereditary cancers, cardiovascular conditions, and other medically important disorders for which clinical treatment guidelines are established. The test also screens for carrier status for other diseases.

Our overall health and longevity are determined about 30% by genetics, said Debra Leonard, M.D, Ph.D., chair, Pathology and Laboratory Medicine at UVM Health in a press release. But until now, most of our clinical health care decisions have been made without understanding the differences in each individuals DNA that could help guide those decisions.

The Genomic DNA Test will be offered over the next year to 1,000 patients who are over 18 years old, are treated by a UVM Health Network Family Medicine provider, are not pregnant, or the partner of someone who is currently pregnant, and are part of the OneCare Vermont Accountable Care Organization (ACO). The testing will be conducted by Invitae on healthy individuals who opt in to the pilot and will be provided with information about their potential risk of developing diseases like cancer or heart disease based on their genetic make-up, with the potential to adjust their healthcare and lifestyle to help mitigate some of these risks.

Nearly one-in-six healthy individuals exhibit a genetic variant for which instituting or altering medical management is warranted, said Robert Nussbaum, M.D., Invitaes chief medical officer in a prepared statement. Genetic screening like the Genomic DNA Test in a population health setting can help identify these risk factors so clinicians can better align disease management and prevention strategies for each patient.

The test and any pre- and post-test genetic counseling services will be provided to pilot project participants at no charge and results will become a part of each patients medical record and available to the patient and all of his or her healthcare providers.

In addition to providing patient-specific information that can help determine health and wellness decisions, patient genomic data can also be used in for broader research applications that are helping to unravel the genetic basis for a number of diseases.

Patients who are interested in making their data available for research purposes can share their data through LunaDNA, the sharing platform of pilot project partner LunaPBC. Patients who choose to share their data with researchers will become shareholders in LunaPBC, a public benefit corporation owned by the individuals who provide their genomic data to the company. Data provided by LunaDNA to researchers I de-identified to protect the privacy of its member-owners. In the future the patients will also be able to shareand receive additional LunaPBC share forlifestyle, nutrition and environmental data.

Vermonters who choose to share their genomic data for research will play a leading role in the advancement of precision medicine, said Dawn Barry, LunaPBC president and co-founder. This effort puts patients first to create a virtuous cycle for research that doesnt sacrifice patients control or privacy.We are proud to bring our values as a public benefit corporation and community-owned platform to this partnership.

According to UVM Health, the pilot program, run through the ACO is a step toward moving to a value-based healthcare system.

Vermont and other states are moving away from fee-for-service health care and toward a system that emphasizes prevention, keeping people healthy, and treating illness at its earliest stages, Leonard said. Integrating genetic risks into clinical care will help patients and providers in their decision-making.

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UVM Health Taps LunaPBC, Invitae on Genomic Testing Pilot Project - Clinical OMICs News

By Sandee LaMotte, CNN

(CNN) If certain vegetables have always made you gag, you may be more than a picky eater. Instead, you might be what scientists call a super-taster: a person with a genetic predisposition to taste food differently.

Unfortunately, being a super-taster doesnt make everything taste better. In fact, it can do the opposite.

Super-tasters are extremely sensitive to bitterness, a common characteristic of many dark green, leafy veggies such as broccoli, cauliflower, cabbage and Brussels sprouts, to name a few.

The person who has that genetic propensity gets more of the sulfur flavor of, say, Brussels sprouts, especially if theyve been overcooked, said University of Connecticut professor Valerie Duffy, an expert in the study of food taste, preference and consumption.

So that [bitter] vegetable is disliked, and because people generalize, soon all vegetables are disliked, Duffy said. If you ask people, Do you like vegetables? They dont usually say, Oh yeah, I dont like this, but I like these others. People tend to either like vegetables or not.

In fact, people with the bitter gene are2.6 times more likely to eat fewer vegetables than people who donot have that gene, according to a new study presented Monday at the annual meeting of the American Heart Association.

We wanted to know if genetics affected the ability of people who need to eat heart-healthy foods from eating them, said study author Jennifer Smith, a registered nurse who is a postdoc in cardiovascular science at the University of Kentucky School of Medicine.

While we didnt see results in gene type for sodium, sugar or saturated fat, we did see a difference in vegetables, Smith said, adding that people with the gene tasted a ruin-your-day level of bitterness.

Our sense of taste relies on much more than a gene or two. Receptors on our taste buds are primed to respond to five basic flavors: salty, sweet, sour, bitter and umami, which is a savory flavor created by an amino acid called glutamate (think of mushrooms, soy sauce, broth and aged cheeses).

But its also smelling through the mouth and the touch, texture and temperature of the food, Duffy said. Its very difficult to separate out taste from the rest. So when any of us say the food tastes good, its a composite sensation that were reacting to.

Even our saliva can enter the mix, creating unique ways to experience food.

When we come to the table, we dont perceive the food flavor or the taste of food equally, Duffy said. Some people live in a pastel food world versus others who might live in a more vibrant, neon food world. It could explain some of the differences in our food preference.

While there are more than 25 different taste receptors in our mouth, one in particular has been highly researched: the TAS2R38, which has two variants called AVI and PAV.

About 50% of us inherent one of each, and while we can taste bitter and sweet, we are not especially sensitive to bitter foods.

Another 25% of us are called non-tasters because we received two copies of AVI. Non-tasters arent at all sensitive to bitterness; in fact food might actually be perceived as a bit sweeter.

The last 25% of us have two copies of PAV, which creates the extreme sensitivity to the bitterness some plants develop to keep animals from eating them.

When it comes to bitterness in the veggie family, the worst offenders tend to be cruciferous vegetables, such as broccoli, kale, bok choy, arugula, watercress, collards and cauliflower.

Thats too bad, because they are also full of fiber, low in calories and are nutrient powerhouses. Theyre packed with vitamins A and C and whats called phytonutrients, which are compounds that may help to lower inflammation.

Rejecting cruciferous or any type of vegetable is a problem for the growing waistline and health of America.

As we age as a population, vegetables are very important for helping us maintain our weight, providing all those wonderful nutrients to help us maintain our immune system and lower inflammation to prevent cancer, heart disease and more, Duffy said.

Food scientists are trying to develop ways to reduce the bitterness in veggies, in the hopes we can keep another generation of super-tasters from rejecting vegetables.

Theres been some success. In fact, the Brussels sprouts we eat today are much sweeter than those our parents or grandparents ate. Dutch growers in the 90s searched their seed archives for older, less bitter varieties, then cross-pollinated them with todays higher yielding varieties.

People who already reject vegetables might try to use various cooking methods that can mask the bitter taste.

Just because somebody carries the two copies of the bitter gene doesnt mean that they cant enjoy vegetables, Duffy said. Cooking techniques such as adding a little fat, a little bit of sweetness, strong flavors like garlic or roasting them in the oven, which brings out natural sweetness, can all enhance the overall flavor or taste of the vegetable and block the bitterness.

The-CNN-Wire & 2019 Cable News Network, Inc., a WarnerMedia Company. All rights reserved.

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Attention Vegetable Haters: It Could Be In Your Genes - CBS Boston

LONDON--(BUSINESS WIRE)--Vertex Pharmaceuticals Incorporated (Nasdaq: VRTX) today confirms that NHS Wales has accepted an offer for all currently licensed Vertex cystic fibrosis (CF) medicines and any future indications of these medicines under the same terms as the recently announced agreement with NHS England.

This means that once the contract is finalized, patients with CF in Wales ages 2 years and older who have two copies of the F508del mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene can access ORKAMBI (lumacaftor/ivacaftor) and CF patients ages 12 years and older who either have two copies of the F508del mutation or one copy of the F508del mutation and a copy of one of the other 14 licensed mutations can access SYMKEVI (tezacaftor/ivacaftor) in combination with ivacaftor in the coming weeks.

The agreement also offers expanded access to KALYDECO (ivacaftor) to include those patients ages 12 months and older who have one of the nine licensed gating mutations.

Todays announcement is good news for the approximately 270 eligible cystic fibrosis patients in Wales who will soon have access to CFTR modulators to treat the underlying cause of their disease, said Ludovic Fenaux, Senior Vice President, Vertex International. We thank the authorities in Wales for their collaboration in accepting this offer under the same terms as were recently announced in England.

About CF in the UKOver 10,000 people in the UK have CF the second highest number in the world. Over 430 people in Wales have CF. CF is a debilitating, life-shortening inherited condition that causes progressive damage to organs across the body from birth. Currently, there is no cure for CF and half of people in the UK with CF die before they are 32. The daily impact of treatment is significant. It can take up to four or more hours, involving nebulizers, physiotherapy and up to 70 tablets a day. CF accounts for 9,500 hospital admissions and over 100,000 hospital bed days a year. A third of these are used by children under 15.

About ORKAMBI (lumacaftor/ivacaftor) and the F508del mutationIn people with two copies of the F508del mutation, the CFTR protein is not processed and trafficked normally within the cell, resulting in little-to-no CFTR protein at the cell surface. Patients with two copies of the F508del mutation are easily identified by a simple genetic test.

Lumacaftor/ivacaftor is a combination of lumacaftor, which is designed to increase the amount of mature protein at the cell surface by targeting the processing and trafficking defect of the F508del-CFTR protein, and ivacaftor, which is designed to enhance the function of the CFTR protein once it reaches the cell surface.

For complete product information, please see the Summary of Product Characteristics that can be found on http://www.ema.europa.eu.

About SYMKEVI (tezacaftor/ivacaftor) in combination with ivacaftorSome mutations result in CFTR protein that is not processed or folded normally within the cell, and that generally does not reach the cell surface. Tezacaftor is designed to address the trafficking and processing defect of the CFTR protein to enable it to reach the cell surface and ivacaftor is designed to enhance the function of the CFTR protein once it reaches the cell surface.

SYMKEVI is indicated for people with CF ages 12 and older who either have two copies of the F508del mutation or one copy of the F508del mutation and have one of the following 14 mutations in which the CFTR protein shows residual function: P67L, R117C, L206W, R352Q, A455E, D579G, 711+3AG, S945L, S977F, R1070W, D1152H, 2789+5GA, 3272-26AG, or 3849+10kbCT.

For complete product information, please see the Summary of Product Characteristics that can be found on http://www.ema.europa.eu.

About KALYDECO (ivacaftor)KALYDECO (ivacaftor) is the first medicine to treat the underlying cause of CF in people with specific mutations in the CFTR gene. Known as a CFTR potentiator, ivacaftor is an oral medicine designed to keep CFTR proteins at the cell surface open longer to improve the transport of salt and water across the cell membrane, which helps hydrate and clear mucus from the airways.

KALYDECO is indicated in people ages 12 months and older who have one of the following mutations in the CFTR gene: G551D, G1244E, G1349D, G178R, G551S, S1251N, S1255P, S549N or S549R. KALYDECO is also indicated for the treatment of patients with CF ages 18 years and older who have an R117H mutation in the CFTR gene.

For complete product information, please see the Summary of Product Characteristics that can be found on http://www.ema.europa.eu.

About VertexVertex is a global biotechnology company that invests in scientific innovation to create transformative medicines for people with serious diseases. The company has four approved medicines that treat the underlying cause of cystic fibrosis (CF) a rare, life-threatening genetic disease and has several ongoing clinical and research programs in CF. Beyond CF, Vertex has a robust pipeline of investigational medicines in other serious diseases where it has deep insight into causal human biology, such as sickle cell disease, beta thalassemia, pain, alpha-1 antitrypsin deficiency, Duchenne muscular dystrophy and APOL1-mediated kidney diseases.

Founded in 1989 in Cambridge, Mass., Vertex's global headquarters is now located in Boston's Innovation District and its international headquarters is in London, UK. Additionally, the company has research and development sites and commercial offices in North America, Europe, Australia and Latin America. Vertex is consistently recognized as one of the industry's top places to work, including 10 consecutive years on Science magazine's Top Employers list and top five on the 2019 Best Employers for Diversity list by Forbes.

Special Note Regarding Forward-looking StatementsThis press release contains forward-looking statements as defined in the Private Securities Litigation Reform Act of 1995, including, without limitation, the statements by Mr. Fenaux in the fourth paragraph of this press release, statements regarding our expectations for the patient populations that will be able to access Vertexs medicines and the timing of such access, and statements about our expectations regarding a formal agreement in Northern Ireland. While Vertex believes the forward-looking statements contained in this press release are accurate, these forward-looking statements represent the company's beliefs only as of the date of this press release and there are a number of risks and uncertainties that could cause actual events or results to differ materially from those expressed or implied by such forward-looking statements. Those risks and uncertainties include, among other things, that data from the company's development programs may not support registration or further development of its compounds due to safety, efficacy or other reasons, and other risks listed under Risk Factors in Vertex's annual report and subsequent quarterly reports filed with the Securities and Exchange Commission and available through the company's website at http://www.vrtx.com. Vertex disclaims any obligation to update the information contained in this press release as new information becomes available.

(VRTX-GEN)

Link:
Vertex Confirms Wales Offer Accepted for Access to All Licensed Cystic Fibrosis Medicines - Business Wire

After a class-action lawsuit was filed in October against several hospitals, Illinois Department of Children and Family Services (DCFS), and several doctors, audio has surfaced of some of the defendants in the case plotting to collude with DCFS to take children away from parents extra-lawfully. Recordings of these doctors at a committee meeting appear to bolster the plaintiffs' claims that the hospitals and agencies named in the suit "used the power given to them as State officials and/or employees and through their authorities and investigative powers to cause the Plaintiffs to be threatened and coerced into accepting unwanted and unnecessary medical procedures," as alleged in the lawsuit.

In April of 2018, the Perinatal Advisory Committee (PAC) that operates under the Illinois Department of Health met to discuss giving injections of Vitamin K in violation of the written refusals of parents. Not all the people on the recording can be identified by voice. PJ Media reached out to the members of the PAC but none would respond to identify who is speaking. But it is certain that all persons speaking are on the committee and a list of who was there can be seen at the end of this article. The following is a transcript of the recording.

WOMAN #2: On the wording on this and I actually just texted our neonatologist cause he wanted to be here and couldnt. We are a little concerned that its saying: The hospitals will. But it says: DCFS may. Mandating hospitals to do things but giving DCFS options to do things. So, then that puts the hospital in a little bit of a problem because I dont think hospitals want to be taking over custody all the time and then DCFS may investigate for medical neglect.

WOMAN #1: Its the issue is whether you are mandated to give vitamin k by taking protective custody. This is what this does. It doesnt mean that DCFS has to say the parent cant be the parent. But, it gives you the chance to give the child vitamin K through DCFS.

UNDETERMINED MAN: Correct.

WOMAN #1: So, I think it is okay. You dont need every parent to be accused of medical neglect and investigated. You need the right to give the vitamin k which DCFS will provide the custody for with this consistent message.

MS. LIGHTNER: I think you want the wiggle room of the may on the DCFS side because what I have heard is: If they are automatically slapped with medical neglect theres all sorts of ramifications there. So, you want DCFS to have that because if its shall

MAN #3: So, please clarify if DCFS says No, we are not going to investigate but the hospital has taken

WOMAN #1: You can take Protective custody is just the right to do what you think is right for the baby. And, DCFS, if they say, yes, that we agree with you, cause this is our rule. You give the vitamin K and then do any of us really care what happens next?

WOMAN #3: No, but can they sue you then?

WOMAN #1: No, because you have their you took protective custody. Thats the part that we have to assure with DCFS. That when we do this

MS. LIGHTNER: Need DCFS to assure you.

WOMAN #1: Yes, thats what I mean, DCFS has to say, This is our protocol, no matter what else we do: You are protected.

MAN #3: At what point does protective custody stop?

MULTIPLE VOICES. Right after

UNDETERMINED WOMAN: Its two minutes or whatever it is.

UNDETERMINED WOMAN: How much beyond?

UNDETERMINED MAN: As soon as you give the injection.

UNDETERMINED WOMAN Continues: Is it two minutes? Is it ten minutes? Do we wait until DCFS says we are coming or we are not coming?

WOMAN #1: They dont have to come. I think protective custody is you just claim that you have done it.

You can listen below.

This audio is shocking proof that doctors hold immense power over individual rights. Liberty died around a board room table in Chicago that day. Innocent parents had their children removed from their custody on nothing more than some unelected busybody's opinion that their medical degree was more important than constitutional rights and the right to informed consent.

At least one member of the PAC made it clear that she didn't care what happened after she imposed her will on American citizens using the power of the State. Although she may not care what happens next, when a doctor declares a parent unfit to make medical decisions and involves child welfare, the consequences are nothing short of horrific.

Medical kidnappings can and do result in accusations of "medical child abuse" by child welfare agents, leading to lengthy court battles and even the termination of parental rights. The Drake Pardo case in Texas illustrates this growing threat to families. Drake was taken from his parents and put into foster care because his mother wanted a second opinion on his condition. Theirs isn't the only story of doctors-gone-wild with power and professional privilege. The case of Justine Pelletier resulted in national attention when Boston Children's Hospital held a child with a rare mitochondrial disease for 16 months against her will, without proper treatment, and away from her parents in a psych ward until a judge intervened and ordered her to be returned to her family.

The epidemic of doctors taking custody of children because they deem themselves smarter and more capable of making decisions than parents is getting worse across all fields of medicine where children are seen, especially in rare genetic disorder cases. Mitochondrial Disease News reported the scary reality.

Hollinger, who has been with MitoAction for eight years, was previously a nurse at New Yorks Albany Medical Center. She spoke about medical child abuse at an October 2017 rare disease summit in Washington, D.C., sponsored by theNational Organization for Rare Disorders, which counts MitoAction among its 260 patient advocacy groups.

We need medical professionals, but the way I see it, the families are experts on their child in a way the doctor isnt, Hollinger explained. We are not all the same, even if we have the same genetic mutations.

She added: Child protective agencies are out there, and they work quite closely with the doctors. But theyre overworked and they know nothing about rare diseases. So, if some doctor or school says I think theyre overdoing it, Child Protective Services will ask the name of this disease. Theyre already aligning themselves and not in your ballpark.

The fact that doctors in Chicago are trying to expand the definition of medical neglect to include refusal of procedures that are not mandated by law, and DCFS appears to be eager to do their bidding, is unconscionable and if unchecked it will lead to more innocent families torn apart unnecessarily. The lawsuit is a good step forward to hold these people accountable, but there is no amount of money that can make right the damage that is done to a bonding newborn and mother when forcibly separated.

The recorded members of the PAC who were in attendance at the April 2018 meeting can be seen in the screenshot of the meeting minutes below.

Megan Fox is the author of Believe Evidence; The Death of Due Process from Salome to #MeToo. Follow on Twitter @MeganFoxWriter

See more here:
Doctors Caught on Tape Plotting to Take Custody of Newborns Whose Parents Refuse Vitamin K Shots | News and Politics - PJ Media

LONDON--(BUSINESS WIRE)--

-Eligible patients in Northern Ireland will soon have access to ORKAMBI (lumacaftor/ivacaftor) and SYMKEVI (tezacaftor/ivacaftor), expanded access to KALYDECO (ivacaftor) under same terms as NHS England agreement-

Vertex Pharmaceuticals Incorporated (VRTX) today confirms that the Regional Pharmaceutical Procurement Service in Northern Ireland has accepted an offer for access to all currently licensed Vertex cystic fibrosis (CF) medicines and any future indications of these medicines under the same terms as the recently announced agreement with NHS England.

This means that once the contract is finalized, patients with CF in Northern Ireland ages 2 years and older who have two copies of the F508del mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene will have access to ORKAMBI (lumacaftor/ivacaftor) and CF patients ages 12 years and older who either have two copies of the F508del mutation or one copy of the F508del mutation and a copy of one of the other 14 licensed mutations will have access to SYMKEVI (tezacaftor/ivacaftor) in combination with ivacaftor. We will support the arrangements being put in place to ensure clinicians will be able to prescribe to eligible patients within the next few weeks.

The agreement also offers expanded access to KALYDECO (ivacaftor) to include people ages 18 years and older who have the R117H mutation and those patients ages 12 months and older who have one of the nine licensed gating mutations.

We are pleased that the nearly 280 eligible cystic fibrosis patients in Northern Ireland will soon have access to CFTR modulators to treat the underlying cause of their disease and we thank the authorities in Northern Ireland for their collaboration and commitment in this agreement, said Ludovic Fenaux, Senior Vice President, Vertex International.

About CF in the UK Over 10,000 people in the UK have CF the second highest number in the world. Nearly 480 people in Northern Ireland have CF. CF is a debilitating, life-shortening inherited condition that causes progressive damage to organs across the body from birth. Currently, there is no cure for CF and half of people in the UK with CF die before they are 32. The daily impact of treatment is significant. It can take up to four or more hours, involving nebulizers, physiotherapy and up to 70 tablets a day. CF accounts for 9,500 hospital admissions and over 100,000 hospital bed days a year. A third of these are used by children under 15.

About ORKAMBI (lumacaftor/ivacaftor) and the F508del mutation In people with two copies of the F508del mutation, the CFTR protein is not processed and trafficked normally within the cell, resulting in little-to-no CFTR protein at the cell surface. Patients with two copies of the F508del mutation are easily identified by a simple genetic test.

Lumacaftor/ivacaftor is a combination of lumacaftor, which is designed to increase the amount of mature protein at the cell surface by targeting the processing and trafficking defect of the F508del-CFTR protein, and ivacaftor, which is designed to enhance the function of the CFTR protein once it reaches the cell surface.

For complete product information, please see the Summary of Product Characteristics that can be found on http://www.ema.europa.eu.

About SYMKEVI (tezacaftor/ivacaftor) in combination with ivacaftor Some mutations result in CFTR protein that is not processed or folded normally within the cell, and that generally does not reach the cell surface. Tezacaftor is designed to address the trafficking and processing defect of the CFTR protein to enable it to reach the cell surface and ivacaftor is designed to enhance the function of the CFTR protein once it reaches the cell surface.

SYMKEVI is indicated for people with CF ages 12 and older who either have two copies of the F508del mutation or one copy of the F508del mutation and have one of the following 14 mutations in which the CFTR protein shows residual function: P67L, R117C, L206W, R352Q, A455E, D579G, 711+3AG, S945L, S977F, R1070W, D1152H, 2789+5GA, 3272-26AG, or 3849+10kbCT.

For complete product information, please see the Summary of Product Characteristics that can be found on http://www.ema.europa.eu.

About KALYDECO (ivacaftor) KALYDECO (ivacaftor) is the first medicine to treat the underlying cause of CF in people with specific mutations in the CFTR gene. Known as a CFTR potentiator, ivacaftor is an oral medicine designed to keep CFTR proteins at the cell surface open longer to improve the transport of salt and water across the cell membrane, which helps hydrate and clear mucus from the airways.

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KALYDECO is indicated in people ages 12 months and older who have one of the following mutations in the CFTR gene: G551D, G1244E, G1349D, G178R, G551S, S1251N, S1255P, S549N or S549R. KALYDECO is also indicated for the treatment of patients with CF ages 18 years and older who have an R117H mutation in the CFTR gene.

For complete product information, please see the Summary of Product Characteristics that can be found on http://www.ema.europa.eu.

About Vertex

Vertex is a global biotechnology company that invests in scientific innovation to create transformative medicines for people with serious diseases. The company has four approved medicines that treat the underlying cause of cystic fibrosis (CF) a rare, life-threatening genetic disease and has several ongoing clinical and research programs in CF. Beyond CF, Vertex has a robust pipeline of investigational medicines in other serious diseases where it has deep insight into causal human biology, such as sickle cell disease, beta thalassemia, pain, alpha-1 antitrypsin deficiency, Duchenne muscular dystrophy and APOL1-mediated kidney diseases.

Founded in 1989 in Cambridge, Mass., Vertex's global headquarters is now located in Boston's Innovation District and its international headquarters is in London, UK. Additionally, the company has research and development sites and commercial offices in North America, Europe, Australia and Latin America. Vertex is consistently recognized as one of the industry's top places to work, including 10 consecutive years on Science magazine's Top Employers list and top five on the 2019 Best Employers for Diversity list by Forbes.

Special Note Regarding Forward-looking Statements

This press release contains forward-looking statements as defined in the Private Securities Litigation Reform Act of 1995, including, without limitation, the statements by Mr. Fenaux in the fourth paragraph of this press release and statements regarding our expectations for the patient populations that will be able to access Vertexs medicines and the timing of such access. While Vertex believes the forward-looking statements contained in this press release are accurate, these forward-looking statements represent the company's beliefs only as of the date of this press release and there are a number of risks and uncertainties that could cause actual events or results to differ materially from those expressed or implied by such forward-looking statements. Those risks and uncertainties include, among other things, that data from the company's development programs may not support registration or further development of its compounds due to safety, efficacy or other reasons, and other risks listed under Risk Factors in Vertex's annual report and subsequent quarterly reports filed with the Securities and Exchange Commission and available through the company's website at http://www.vrtx.com. Vertex disclaims any obligation to update the information contained in this press release as new information becomes available.

(VRTX-GEN)

View source version on businesswire.com: https://www.businesswire.com/news/home/20191112005777/en/

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Vertex Confirms Northern Ireland Offer Accepted for Cystic Fibrosis Medicines - Yahoo Finance

Since Invitaes inception a decade ago, the firm has been working for the proactive use of genetic information in mainstream medicine. The San Francisco, CA-based company has been using M&A activity to help bring companies under its tent to help make this goal a reality.

On Monday, the genetic-testing specialist made more progress on this front by announcing it would put down $50 million to acquire Clear Genetics, a company that develops digital counseling software.

San Francisco, CA-based Clear Genetics has developed Gia, a chatbot that equips patients with actionable information throughout the genetic testing process and provides guidance for understanding test results.

Invitae said Gia can guide patients regarding consent, personalized risk assessment, insurance benefits, pre/post-test education and understanding their test results, all through an intuitive online conversation. Patients are able to ask Gia questions throughout the process, and the chatbox uses natural language processing to respond with the resources they need. Gia is currently being used by customers in Invitae's direct channel.

In a release, Sean George, co-founder and CEO of Invitae said, For genetics to truly go mainstream, patients and clinicians need automated workflow solutions like those Clear Genetics has created. In working with the Clear Genetics team over the past year, we have first-hand experience with the value of their patient-centric services. With their capabilities, we will greatly enhance our ability to provide a streamlined customer experience, enable scaled clinician education and support, and arm genetics experts with the tools they need to keep up with the exploding demand for genetic information in healthcare.

Taking genetics mainstream is a lofty goal, but through a wide range of acquisitions, Invitae is quickly accomplishing this task. Just a few months ago the company reported it signed an agreement to acquire Singular Bio, a non-invasive prenatal screening (NIPS) specialist for $55 million.

Two years ago, Invitae landed two deals acquiring both Good Start Genetics and CombiMatrix, two companies that specialize in screening prospective parents and newborns. During a 2017 earnings call discussing the deals, George said these acquisitions were the beginning of genetics being broadly available to all and accessible to all in mainstream medicine.

Invitaes 3Q19 earnings paint the picture the companys strategy is significant inroads in reaching this goal. Looking at the numbers, the company generated revenue of $57. million in 3Q19, which represented a 51% increase over 3Q18 revenue of $37.4 million.

Ten years ago, when we started Invitae [we wanted] to get genetic information incorporated into mainstream medical use for everyone around the world in modernized economies, George said during Invitaes 3Q19 earnings call, according to a Seeking Alpha Transcript. While we have many years to go, the transformation of the genetics industry is underway. And we believe our 26th quarter of on average double-digit quarter-over-quarter growth serves as an indication of a new trajectory, a new model for personalized medicine as we move this industry beyond the more than 1.7 million people in the U.S. diagnosed with cancer per year into all of the equally impactful genetic disorders affecting those we serve.

Read the rest here:
Deal Helps Bring Genetic Information to Mainstream Medicine - Medical Device and Diagnostics Industry

If certain vegetables have always made you gag, you may be more than a picky eater. Instead, you might be what scientists call a super-taster: a person with a genetic predisposition to taste food differently.

Unfortunately, being a super-taster doesnt make everything taste better. In fact, it can do the opposite.

Super-tasters are extremely sensitive to bitterness, a common characteristic of many dark green, leafy veggies such as broccoli, cauliflower, cabbage and Brussels sprouts, to name a few.

The person who has that genetic propensity gets more of the sulfur flavor of, say, Brussels sprouts, especially if theyve been overcooked, said University of Connecticut professor Valerie Duffy, an expert in the study of food taste, preference and consumption.

So that [bitter] vegetable is disliked, and because people generalize, soon all vegetables are disliked, Duffy said. If you ask people, Do you like vegetables? They dont usually say, Oh yeah, I dont like this, but I like these others. People tend to either like vegetables or not.

In fact, people with the bitter gene are 2.6 times more likely to eat fewer vegetables than people who do not have that gene, according to a new study presented Monday at the annual meeting of the American Heart Association.

We wanted to know if genetics affected the ability of people who need to eat heart-healthy foods from eating them, said study author Jennifer Smith, a registered nurse who is a postdoc in cardiovascular science at the University of Kentucky School of Medicine.

While we didnt see results in gene type for sodium, sugar or saturated fat, we did see a difference in vegetables, Smith said, adding that people with the gene tasted a ruin-your-day level of bitterness.

Our sense of taste relies on much more than a gene or two. Receptors on our taste buds are primed to respond to five basic flavors: salty, sweet, sour, bitter and umami, which is a savory flavor created by an amino acid called glutamate (think of mushrooms, soy sauce, broth and aged cheeses).

But its also smelling through the mouth and the touch, texture and temperature of the food, Duffy said. Its very difficult to separate out taste from the rest. So when any of us say the food tastes good, its a composite sensation that were reacting to.

Even our saliva can enter the mix, creating unique ways to experience food.

When we come to the table, we dont perceive the food flavor or the taste of food equally, Duffy said. Some people live in a pastel food world versus others who might live in a more vibrant, neon food world. It could explain some of the differences in our food preference.

While there are more than 25 different taste receptors in our mouth, one in particular has been highly researched: the TAS2R38, which has two variants called AVI and PAV.

About 50% of us inherent one of each, and while we can taste bitter and sweet, we are not especially sensitive to bitter foods.

Another 25% of us are called non-tasters because we received two copies of AVI. Non-tasters arent at all sensitive to bitterness; in fact food might actually be perceived as a bit sweeter.

The last 25% of us have two copies of PAV, which creates the extreme sensitivity to the bitterness some plants develop to keep animals from eating them.

When it comes to bitterness in the veggie family, the worst offenders tend to be cruciferous vegetables, such as broccoli, kale, bok choy, arugula, watercress, collards and cauliflower.

Thats too bad, because they are also full of fiber, low in calories and are nutrient powerhouses. Theyre packed with vitamins A and C and whats called phytonutrients, which are compounds that may help to lower inflammation.

Rejecting cruciferous or any type of vegetable is a problem for the growing waistline and health of America.

As we age as a population, vegetables are very important for helping us maintain our weight, providing all those wonderful nutrients to help us maintain our immune system and lower inflammation to prevent cancer, heart disease and more, Duffy said.

Food scientists are trying to develop ways to reduce the bitterness in veggies, in the hopes we can keep another generation of super-tasters from rejecting vegetables.

Theres been some success. In fact, the Brussels sprouts we eat today are much sweeter than those our parents or grandparents ate. Dutch growers in the 90s searched their seed archives for older, less bitter varieties, then cross-pollinated them with todays higher-yielding varieties.

People who already reject vegetables might try to use various cooking methods that can mask the bitter taste.

Just because somebody carries the two copies of the bitter gene doesnt mean that they cant enjoy vegetables, Duffy said. Cooking techniques such as adding a little fat, a little bit of sweetness, strong flavors like garlic or roasting them in the oven, which brings out natural sweetness, can all enhance the overall flavor or taste of the vegetable and block the bitterness.

More:
Your hatred of heart-healthy veggies could be genetic - WTVR CBS 6 News

The market is estimated to grow with a CAGR of 21. 4% from 2018-2025. The growth of the next generation sequencing market is primarily attributed to the technological advancements in sequencing and an extensive use of genomics for medical applications.

New York, Nov. 12, 2019 (GLOBE NEWSWIRE) -- Reportlinker.com announces the release of the report "Europe Next Generation Sequencing Market to 2025 - Regional Analysis and Forecasts by Product; Service; Application; & End User, and Country" - https://www.reportlinker.com/p05794719/?utm_source=GNW However, nonexistence of skilled professionals and high risks associated with genetic data.

On the other hand, an extensive use of genomics for medical applications is likely to have a positive impact on the growth of the Europe next generation sequencing market in the coming years.The genomics is comprised of various technologies such next generation sequencing (NGS), genome editing, gene synthesis and more.These technologies have been utilized for achieving various discoveries for the betterment of the health conditions across the living organisms.

The next generation sequencing is widely used in the field of the medical to understand the genetic composition of the patients.The use of NGS has been utilized for the alteration of plants and animals for the desired physical and genetic changes.

The technology is used to produce biomarkers.The biomarkers are widely used in clinical research and clinical practice.

NGS is among the important developments in genomic technologies, the technology is used for the discovery of oncogenic biomarker and diagnostics. NGS enables in discovery of biomarker and identifying the genetic diseases. In addition, the NGS is used for the developing precision medicine for individuals genomic information to offer targeted treatment to the individual. NGS have capability of sequencing large sections of a persons genome in very short period of time and can also aid in formulation of precision medicine. Next generation sequencing technology is among the major driver of precision medicine and has improved its accuracy, speed, and cost. Developments in whole genome sequencing has enabled the identification of genes required in the large number of diseases, and biomarkers that indicate disease severity to treatment are gradually being characterized. Therefore, the use of the NGS for the discovery of biomarker have benefited for the early diagnosis and differentiating in disease types. Likewise, precision medicine enables in treatment of the diseases NGS plays significant role for both the application by creating an array of opportunities in future.In 2017, the consumables segment held a largest market share of 64.0% of the next generation sequencing market, by product. The segment is growing due to the consumables offered by various companies are widely accepted by the consumers and it provides accuracy and precision in the preparation of the NGS. Furthermore, the similar segment is anticipated to witness the fastest growth rate during the forecast period, 2018 to 2025.In 2017, the resequencing segment held a largest market share of 66.0% of the next generation sequencing market, by technology. This segment is also expected to dominate the market in 2025 as the rising funding by various government bodies and usage of NGS in the resequencing and targeted sequencing. Furthermore, the genome sequencing segment is anticipated to witness the fastest growth rate during the forecast period, 2018 to 2025.Diagnostics segment is anticipated to grow at a CAGR of 22.0% during the forecast period owing to the growth of the technological advancements such as sequencing machines in the developed and developing regions. Moreover, the similar segment held the largest market share of 34.0% for the application segment in the next generation sequencing market and is likely to dominate the market in coming forecast period.In 2017, the academic & research institutes segment held a largest market share of 45.2% of the next generation sequencing market, by end user. This segment is also expected to dominate the market in 2025. Moreover, the similar segment is anticipated to witness the fastest growth rate of 21.9% during the forecast period, 2017 to 2025. This higher growth rate of the segment owing to the providing the references for further researches are likely to propel the growth of the research centers segment in the coming future.Some of the major primary and secondary sources for next generation sequencing included in the report are, Non-Invasive Prenatal Testing (NIPT), Food and Drug Administration (FDA), Developing an European - American NGS Network (DEANN), Foreign Direct Investment (FDI) and among others.Read the full report: https://www.reportlinker.com/p05794719/?utm_source=GNW

About ReportlinkerReportLinker is an award-winning market research solution. Reportlinker finds and organizes the latest industry data so you get all the market research you need - instantly, in one place.

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The Europe next generation sequencing market is expected to reach US$ 7,685.4 Mn in 2025 from US$ 1,633.4 Mn in 2017 - Yahoo Finance

Extending the Healthy Human Life Span

For millennia, humans have dreamed about extending their lives. Today, medical assessments are available that can impact longevity, identify risks for disease, and provide early diagnosis for serious diseases, including insights into critical areas such as coronary artery disease, neurovascular disease, dementia, cancer, and metabolic disease.

Looking at the past 30 years medical practice, we can see that the physician is the integrator of data: He takes a family history and performs a physical exam and basic blood work to make an assessment of the patients health. The tools are familiar: blood pressure cuff, thermometer, and otoscope (checking ears and nose).

The next generation of medicine has machine learning and artificial intelligence as the integrators of data alongside the physician. Inputs involve more detailed information to analyze current health status, including whole-genome sequencing, whole-body and brain MRI (imaging), and advanced bloodwork, all to reveal a precision, personalized, and integrated look at potential risks as well as immediate issues.

[To read more of Dr.Ram Dandillaya s thought leadership click here]

Measure What Matters

If we compare how we measure and monitor our cars, finances, social media, and a myriad of other aspects of our lives to how often and detailed we measure our health status, we might see where preventive measures might help extend our lives.

Craig Venter co-founded Human Longevity Inc. in 2013 and established the Health Nucleus in 2015, a serene and sophisticated research and discovery center based in La Jolla, Calif. By implementing whole-genome sequencing with whole-body and brain imaging and a full and complete set of blood tests, the health assessment these companies offer is truly data driven. That is, unlike more recreational DNA kits, we believe that the code should be assessed with all 6B base pairs. Its not a superficial exam, but rather a deep assessment integrating all results to achieve one of the most precise and personalized assessments available.

An example of our work may be seen in a recent study soon to be published that reviewed 1,190 healthy clients who visited the Health Nucleus. Many received the peace of mind that they are on track with their health: exercising, maintaining a healthy weight, eating nutritious foods, and finding balance in their lives. We also found that a significant portion actually had findings that required medical attention.

Highlights include:

1.7% confirmed cancers otherwise not previously known

2.5% brain and aortic aneurysms, several of which requiredfollow-upinterventions

7% with moderate to severe cardiovascular risk with significant calcified plaque in the coronary arteries

16% with aberrant cardiac structure or function findings

29% with elevated liver fat, which may indicate a risk for developing type 2 diabetes

86% genetic carriers for recessive diseases

17% have a rare genetic mutation

No longer a dream, assessing ones health in these critical areas is not only extremely pertinent to most people but is especially important for addressing chronic, age-related diseases, many of which may be positively impacted by behavior changes, including changes in diet and lifestyle.

On staff at Health Nucleus as chief medical officer is Thomas Caskey, MD, FACP, FACMG, FRSC. A world-renowned expert in clinical genetics, he is part of the team that reviews genetic data and offers advice to our clients through our genetic counselors and medical team. Dr. David Karow serves as president and chief innovation officer and has published numerous papers on early prostate cancer detection through noninvasive, advanced MRI. More recently, he has focused on integrating imaging and genomic biomarkers for identifying disease risk long before disease onset. Recommendations from functional medicine physicians, especially when it comes to taking next steps in improving health, are also important future attributes for the Health Nucleus assessment.

As a cardiologist, my practice Atelier Health is based in Beverly Hills and I have adopted the Health Nucleus protocol with my patients. Using the same testing, I access MRI technology locally, and the Health Nucleus provides the blood, genetic, and image integration to produce a Health Intelligence Report, which I deliver to my patients approximately six weeks after the initial assessment, during a return-of-results session in my office. One of the reasons I am looking forward to providing this assessment to my clients is found in reviewing past client experiences at the Health Nucleus facility. Three in particular show the benefits of how this early assessment provides benefits from peace of mind, from revealing genetic predisposition to early diagnosis of cancer.

One client, Nick B. credits forward-thinking technologists, medical professionals, and scientists who are creating a 21st century approach to healthcare. Human Longevity, through their Health Nucleus assessment, gave me access to the technologies required to detect and prevent diseases of all forms. What followed on from this visit was a complete transformation in my approach to my own health and wellnessfrom the way I eat to my exercise routine, the supplements I take, and how I interact with my own GP doctor back at home.

Bill F. was looking to live a long life, but more importantly a long, healthy life. Instead of just seeking health insurance, he sought health assurance and declared that he wanted to be active and productive until 100. After the experience, Bill noted, Thankfully they found no problems with [my] brain, cholesterol, or balance, although I learned I needed to lose weight and build muscle mass, and I saw I was susceptible to deep vein thrombosis.

Joe N., a Health Nucleus client, recalled how the Health Nucleus discovered a 2.8cm tumor on his left kidney, only four months after he went through his annual physical. He reports, Because the cancer was caught early, I was fortunately able to have the tumor quickly removed through an outpatient ablation procedure, thus avoiding inevitable chemo and radiation treatments. I now have new baseline metrics for my whole genome, brain health, internal organs, and cardiovascular system that empower me to be even more proactive in managing my health.

The goal of Atelier Health is to deliver the highest-quality medical care by focusing on technology designed to optimize the health span. With the understanding that the root causes of many diseases are based on both genetic and lifestyle factors, the Atelier Health/Health Nucleus partnership is a unique one. The practice also offers traditional concierge medical care. The initial evaluation process generally involves an extensive history and physical followed by a thorough battery of tests. This process may take one or two days, depending on the extent of testing.

[For more on Atelier Healths approach click here]

The integration of genetic analysis, advanced imaging, and biomarkers in a multispecialty platform allows for comprehensive care in both health and disease states. This 360-degree view of the patient creates meaningful discussion centered around cutting-edge therapeutics, nutrition, and fitness.

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Dr. Ram Dandillaya: Take Control of Your Health Today with a Precise and Personalized Assessment - csq.com

After a super-fast DNA test developed by scientists at Imperial College, Helen Rumbelow trialled their new gadget it lets people choose food to suit their genes

The Times,November 12 2019, 12:01am

Will it be my grandmothers cancer, or the family weakness for Alzheimers that will get me in the end? Our genes contain instructions for our death as well as our life, but they have always played dumb. Until now.

Now I can wear a wristband with my genetic vulnerability for fatal diseases coded into it. Which is by turns futuristic and kind of terrifying. For me, its like shaking hands with my heart attack scheduled for 2050: Nice to get to know you at last!

Weird, but I soon get used to it when I take the wristband shopping. Its the opposite experience to taking a toddler, endlessly pestering for sweeties, to the supermarket. When I aim the tiny scanner of the DNA Nudge wristband

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DNA Nudge app review: can this wristband tell you the best diet for your genes? - The Times

Start talking about 3-parent babies and thoughts may turn to science fiction. But, the technology to create a so-called 3-parent baby has been available since the 1990s; it just hasnt been put to use much, or studied.Thats about to change, as the technology has been revived and refined.

The updated technique, called mitochondrial replacement therapy, is being used in conjunction with In vitro fertilization (IVF), both as a way of avoiding some genetic diseases, and a method for ensuring IVF implantation success. The results for the latter havent been promising. However, with little tracking or longterm studies, the repercussions for babies born through this technology are unknown.

Through technology, a 3-parent baby has the DNA of a third person (another woman) added through IVF.

Originally, Dr. Jacques Cohen came up with a cytoplasm transfer in the late 1990s. The procedure used the cytoplasm (the material inside a cell, excluding the nucleus) of a donor egg injected into the host egg, and then fertilized. It produced a zygote that had mitochondrial DNA from the donor and nuclear DNA from the host parents.

According to Nu Sci Mag, Dr. Jacques Cohen reported in his book, Human Preimplantation Embryo Selection, the creation of 17 babies by this procedure, of which one was miscarried, and another was aborted.

The other 15 babies, unfortunately, werent tracked to learn the longterm implications of the DNA mix.

When the FDA [Food and Drug Administration] shut down the practice of cytoplasm transfer in 2001, labeling it a biological product and therefore within their domain, the clinic of Dr. Cohen lost the funding and support to pursue follow-up studies on the 15 other chimeras, Nu Sci reported.

So, while these babies dont exactly have three parents, they do have extra DNA from an additional party besides their host parents. Living things that contain such extra, genetically distinct DNA are known by another name: chimeras.

Chimeras do also occur naturally. A form of chimerism termed tetragametic occasionally (the American Journal of Medical Genetics estimates as many as 8% of fraternal twins have this) occurs when non-identical twins share a blood supply before birth. It can also occur with vanishing twin syndrome, in which one baby is born, but has cells from its now vanished sibling.

Another type of chimerism can happen when a patient receives a blood marrow transplant, then produces blood cells with DNA different from their original DNA. And, mothers often carry cells from the babies they carried, even years after their children are born.

Because chimeras are rare, they remain relatively unstudied. Chimeras born through mitochondrial replacement therapy are even rarer. The implications, both for the health of the baby and the genetic load down the germline, remain mysterious.

One of the justifications for implementing this new, improved fertility technology is to help implantation. Many women undergoing IVF endure two or more expensive and harrowing cycles of it. Ensuring implantation on the first try is a laudable goal.

A new study out of Ukraine suggests it doesnt work so well. There are only two clinics worldwide performing the 3-parent procedure (its currently banned in the US), and the study results, presented at a meeting of the American Society of Reproductive Medicine in Philadelphia, showed only one in 109 procedures led to a baby.

One Zero Medium reported that US experts are negative on the 3-parent baby efficacy for implantation.

Dr. David Keefe, an obstetrician-gynecologist at NYU Langone Health, told One Zero Medium the results are evidence that faulty mitochondria are not to blame for the quality of a womans eggs or infertility. They basically point out that it doesnt work.

Keefe suggests that tried-and-true options, like egg donation and surrogacy, are still the best bets if traditional IVF doesnt work.

The real justification for the procedure might be trying to avoid genetic diseases by adding different DNA into the equation. A baby born through what some US doctors term mitochondrial donation (the procedure was performed in Mexico) was born free of a familial disease called Leigh Syndrome, which always leads to the death of the infant. The family had already lost two children and had suffered four miscarriages because of the disorder.

The result is a baby with 0.1% of their DNA from the donor (mitochondrial DNA) and all the genetic code for things like hair and eye colour from the mother and father, the BBC reported.

Unfortunately, the parents also refused to have their baby tracked. This is problematic, because very little is known about the future health consequences of the procedure.

Mitochondria might be powerful, but theyre also involved in metabolic, immune, neural, and psychiatric function. Earlier this year, researchers published a paper showing that mitochondrial DNA is closely tied to the DNA in the nucleus, meaning it might not be possible to use just any egg donor. A mismatch could cause health problems for the child later in life, Keefe told One Zero Medium.

A recent article in Nature pointed out that scientists, because of lack of tracking and very low sample sizes in existing research, are still in the dark about the impact on babies born from a 3-parent situation.

Scientists dont know what amount of diseased mitochondria would cause noticeable symptoms, or even disease, in a child created using genetic material from two women, Nature reported. But studies in mice have shown that mixtures of mitochondria can result in neurological disorders or metabolic conditions.

Nu Sci MagOne Zero MediumNatureBBCScience Mag

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The Reality of 3-Parent Babies - Parentology

I just attended theNational Society of Genetic Counselors Annual Meetingin Salt Lake City, UT where I met some of the brightest minds in genetics, heard about mind-bending new technologies, and was reminded of the many ways that genetic counseling and testing is improving health, transforming lives, and driving precision medicine forward.

With that bright promise freshly in mind, several recent stories have cast a stark reminder of the ways genetic testing can, andis,being used nefariously.I published an article on this topicjust a few short weeks ago and didnt foresee that it would need a part II so soon. Consider the following:

The Trump administration already announced that they would require DNA samples from asylum-seekers at the Mexican border for rapid DNA testing to confirm family relationships.In a move called transparently xenophobic in its intention, the Trump Administration now plans to collect DNA from individuals in federal immigration custody and add those samples to the national FBI crime database.

MIAMI : A judges gavel rests on top of a desk (Photo by Joe Raedle/Getty Images)

A Judge in the Floridas Ninth Judicial Circuit Court signed a warrant allowing a detective to successfully obtain a warrant to search GEDMatchs genetic database,even for users who opted out of appearing in police search results.This decision brings into question whether larger databases, like those of 23andMe and Ancestry, are subject to the same sort of warrants, despite their privacy policies.23andMe does not believe that this decision impacts them, but that remains to be seen.However, it is possible that any privacy policyis only as strong as a police departments ability to get a willing judge to sign a search warrant.

NEW YORK, NY - JUNE 20: (Photo by Santiago Felipe/Getty Images)

A recent genetic study on homosexualityraised eyebrows for many reasons, including that it appeared that homosexuality was being positioned as a condition or worse yet a disease to study and understand.An informativeDNA Exchange blogpost by certified genetic counselor Austin McKittrickeloquently outlined the issues, including that the study utilized data from the UK Biobank and 23andMe.Consumers consenting to 23andMe research studies may falsely believe that their data are being used only to further critical health care problems, like finding a treatment for Parkinsons disease, rather than for research that could potentially lead to discrimination or stigmatization of groups of people.Within days of this research being published an app called GenePlaza was developedthat, for about $5, could tell you how gay you are.Can you imagine this app being used at a middle school slumber party, with results posted to social media?But worse yet, the apps developer is based in Uganda,a country that announced plans that it would make homosexuality punishable by the death penalty.

Now, for just a moment, think about these three developments in unison.Our government is requiring DNA collection for immigrants in custody and those samples will enter our federal crime databases.Large databases, even for consumer entertainment, are subject to search warrant.Genetic data are being collected and used to make associations (accurate, or not) to a trait that may be punishable by death in some countries.

If we have been waiting for a sign thatwe need federal, or international, protections for genetic data and how it can be used, we now have that sign.

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Waiting For The Sign that Protections Are Needed For Genetic Data? Here It Is. - Forbes

CONNECTICUT If certain vegetables have always made you gag, you may be more than a picky eater. Instead, you might be what scientists call a super-taster: a person with a genetic predisposition to taste food differently.

Unfortunately, being a super-taster doesnt make everything taste better. In fact, it can do the opposite.

Super-tasters are extremely sensitive to bitterness, a common characteristic of many dark green, leafy veggies such as broccoli, cauliflower, cabbage and Brussels sprouts, to name a few.

The person who has that genetic propensity gets more of the sulfur flavor of, say, Brussels sprouts, especially if theyve been overcooked, said University of Connecticut professor Valerie Duffy, an expert in the study of food taste, preference and consumption.

So that [bitter] vegetable is disliked, and because people generalize, soon all vegetables are disliked, Duffy said. If you ask people, Do you like vegetables? They dont usually say, Oh yeah, I dont like this, but I like these others. People tend to either like vegetables or not.

In fact, people with the bitter gene are2.6 times more likely to eat fewer vegetables than people who donot have that gene, according to a new study presented Monday at the annual meeting of the American Heart Association.

We wanted to know if genetics affected the ability of people who need to eat heart-healthy foods from eating them, said study author Jennifer Smith, a registered nurse who is a postdoc in cardiovascular science at the University of Kentucky School of Medicine.

While we didnt see results in gene type for sodium, sugar or saturated fat, we did see a difference in vegetables, Smith said, adding that people with the gene tasted a ruin-your-day level of bitterness.

Our sense of taste relies on much more than a gene or two. Receptors on our taste buds are primed to respond to five basic flavors: salty, sweet, sour, bitter and umami, which is a savory flavor created by an amino acid called glutamate (think of mushrooms, soy sauce, broth and aged cheeses).

But its also smelling through the mouth and the touch, texture and temperature of the food, Duffy said. Its very difficult to separate out taste from the rest. So when any of us say the food tastes good, its a composite sensation that were reacting to.

Even our saliva can enter the mix, creating unique ways to experience food.

When we come to the table, we dont perceive the food flavor or the taste of food equally, Duffy said. Some people live in a pastel food world versus others who might live in a more vibrant, neon food world. It could explain some of the differences in our food preference.

While there are more than 25 different taste receptors in our mouth, one, in particular, has been highly researched: the TAS2R38, which has two variants called AVI and PAV.

About 50% of us inherit one of each, and while we can taste bitter and sweet, we are not especially sensitive to bitter foods.

Another 25% of us are called non-tasters because we received two copies of AVI. Non-tasters arent at all sensitive to bitterness; in fact food might actually be perceived as a bit sweeter.

The last 25% of us have two copies of PAV, which creates the extreme sensitivity to the bitterness some plants develop to keep animals from eating them.

When it comes to bitterness in the veggie family, the worst offenders tend to be cruciferous vegetables, such as broccoli, kale, bok choy, arugula, watercress, collards and cauliflower.

Thats too bad, because they are also full of fiber, low in calories and are nutrient powerhouses. Theyre packed with vitamins A and C and something called phytonutrients, which are compounds that may help to lower inflammation.

Rejecting cruciferous or any type of vegetable is a problem for the growing waistline and health of America.

As we age as a population, vegetables are very important for helping us maintain our weight, providing all those wonderful nutrients to help us maintain our immune system and lower inflammation to prevent cancer, heart disease and more, Duffy said.

Food scientists are trying to develop ways to reduce the bitterness in veggies, in the hopes we can keep another generation of super-tasters from rejecting vegetables.

Theres been some success. In fact, the Brussels sprouts we eat today are much sweeter than those our parents or grandparents ate. Dutch growers in the 90s searched their seed archives for older, less bitter varieties, then cross-pollinated them with todays higher-yielding varieties.

People who already reject vegetables might try to use various cooking methods that can mask the bitter taste.

Just because somebody carries the two copies of the bitter gene doesnt mean that they cant enjoy vegetables, Duffy said. Cooking techniques such as adding a little fat, a little bit of sweetness, strong flavors like garlic or roasting them in the oven, which brings out natural sweetness, can all enhance the overall flavor or taste of the vegetable and block the bitterness.

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Your hatred of heart-healthy veggies could be genetic - fox5sandiego.com

By Clare Wilson

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Plans for the National Health Service to sequence the DNA of every baby born in the UK, starting with a pilot scheme of 20,000 children, were announced by health minister Matt Hancock this week. It sounds like the UK is leading the way in high-tech healthcare but doctors are saying the idea is ethically questionable.

Babies are already tested for certain health conditions soon after birth, so it may seem as though sequencing their genome, their entire set of genes, is a simple upgrade of this routine screening, but that isnt the case.

UK babies are tested for nine carefully selected conditions, all of which can be avoided or lessened with pre-emptive treatment. For instance, the metabolic disorder phenylketonuria can cause brain damage, but this can be avoided through a low-protein diet.

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Unfortunately, most illnesses arent as simple or treatable. We are only at the beginning of our journey to understand the complexity of the human genome, and some of the information we have learned so far can create difficult dilemmas.

Take the genetic condition Huntingtons disease, which starts with mild symptoms in middle age, eventually progressing to severe disability and early death. There is no cure.

When people learn that Huntingtons is in their family, they may spend years deciding whether to take the test. Many choose not to. Parents who ask doctors to test their child are turned down, as set out in international guidelines. Deciding to learn if you have the gene responsible is such a personal choice that it must be left to the individual concerned once they turn 18.

Huntingtons is rare, but there are similar dilemmas over more common conditions such as genes that predispose people to Alzheimers disease and some types of cancer. There is currently little you can do to avoid dementia, and for women who learn they have a certain gene that increases cancer risk, the safest step is to have their breasts and ovaries removed.

Some people would rather not know about these risks before it is necessary. We have endless discussions about [the ethics of] testing children for conditions that dont manifest until later life, says Frances Elmslie of the British Society for Genetic Medicine.

Nor would it make sense to sequence children at birth then wait until they are 18 to give the results. In the intervening years, DNA sequencing is bound to become cheaper and more powerful. It would make more sense to offer it to every 18-year-old, says Martin Brunet, a family doctor in Surrey, UK.

There is a small group of children for whom genome sequencing can be useful: those with rare undiagnosed medical conditions. In one study, sequencing led to a diagnosis in a fifth of children in intensive care, and that figure is likely to improve over time. In these cases, parents can consent for their children because there is a medical benefit but that is very different to sequencing everyone out of curiosity.

A US group has begun a small trial of routine genome sequencing of healthy babies. The families are being monitored to see how they cope and to measure any harms and benefits.

No details are available about the UK plans and Hancock didnt respond to New Scientists requests for comment. But introducing sequencing for everyone is a massive step. It will require public consultation over the ethical questions not to mention on practical issues like how the data will be stored securely and the impact on doctors workloads, says Elmslie. We need to think really carefully about this.

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Sequencing the genome of every UK baby would be an ethical minefield - New Scientist News

Could one woman's rare genetic mutation one day have a global impact on dementia risk?

It's possible, say investigators who report on a potentially groundbreaking case of a woman whose genetic mutation staved off dementia for decades, even though her brain hadalreadybeen damaged by Alzheimer's disease.

While most Alzheimer's cases are not driven by genetic predisposition, one woman in Colombia is among about 1,200 in her country who do face a genetically higher risk for early-onset Alzheimer's.

Why? They all carry the E280A mutation of a gene called Presenilin 1 (PSEN1), which is known to increase the chances for Alzheimer's at a far younger age than usual.

"We identified an individual that was predisposed to develop Alzheimer's in her 40s," noted study author Dr. Joseph Arboleda-Velasquez. He's an assistant professor of ophthalmology with the Schepens Eye Research Institute of Mass Eye and Ear at Harvard Medical School, in Boston.

But, strangely, the woman "remained unimpaired until her 70s," Arboleda-Velasquez added.

The twist: the woman had, in fact, developed clear telltale signs of Alzheimer's in her brain. She just hadn't developed dementia.

For example, while she had fewer neural "tangles" in her brain than is typical for Alzheimer's patients, by the time she hit her 40s she did have the same unusually high level of brain amyloid-beta deposits as her E280A peers. Such deposits are a key signature of Alzheimer's.

So why didn't she develop middle-aged dementia like her peers?

To unravel the mystery, Arboleda-Velasquez and his colleagues ran an in-depth genetic analysis on the woman. And what they found is that she had not just one mutation, but two.

In addition to the E280A mutation, she also carried the so-called "Christchurch" mutation in the APOE3 gene.

But there's more. Not only did she carry the Christchurch mutation, but she hadtwoof them. Some of her E280A peers (about 6%) also carried a single copy of Christchurch. But she was the only one who carried two, the investigators found.

"It is ultra-rare, with an approximate prevalence of less than one in every 200,000 individuals," Arboleda-Velasquez said.

And having one such rare mutation did not appear to be enough. No protection against dementia was linked to only one Christchurch mutation. But as this woman's case suggests, having two such mutations did seem to throw up a shield against Alzheimer's, preserving her ability to remember things and think clearly for a few decades, long after her E280A peers had started experiencing cognitive decline.

"This is the first time a specific patient who carries the [double] mutation has been linked to such a protective benefit," Arboleda-Velasquez noted.

How does it work? It seems that "the mutation puts a block on the cascade of events linking amyloid accumulation to neural [brain cell] death," he explained.

The team did acknowledge that more research will be needed to definitively confirm the Christchurch mutation's impact, and to further explore how this mutation/dementia delay connection truly works.

But, in theory, the incredibly rare experience of this one woman in Colombia could ultimately have profound ramifications for Alzheimer's patients around the world, if "new drugs that mimic the effect of [the] mutation" could be developed, said Arboleda-Velasquez. Rather than stopping Alzheimer's from developing, such drugs would prevent Alzheimer's from causing dementia.

The study was published Nov. 4 in the journalNature Medicine, and was partly funded by the U.S. National Institutes of Health and the Alzheimer's Association.

Heather Snyder, vice president of medical and scientific relations at the Alzheimer's Association, characterized the findings as "an important discovery."

The insights gleaned from a look at this particular patient's experience are "full of possibilities for increasing our understanding of Alzheimer's disease and all dementia, and advancing potential avenues for treatment," Snyder suggested.

"Understanding what is happening in the brains of people when there appears to be a delay or stopping of the disease progression because of this gene form or otherwise gives rise to many possibilities for investigating new treatment and risk-reduction opportunities," she added.

At the same time, Snyder cautioned that "more research is needed to understand more thoroughly how genetics impacts Alzheimer's/dementia risk, and to expand and confirm these findings in a larger number of people."

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Alzheimer's disease: Rare genetic mutation might hold clues to preventing or treating dementia - CBS News