StemCell Therapy

All healthy families are alike, a DNA-conscious Leo Tolstoy might have written, and thereby entirely distinct from all thoseeach miserable in its own waywhose bodies or minds are threatened by their very bloodlines. But the Russian author would have been just as mistaken as he was in the famous opening lines of Anna Karenina, where he divided happy families from unhappy ones. As two remarkable books show, there is as much to link as there is to separate the cancer-stricken Gross family in Ami McKays recent memoir Daughter of Family G and the Galvins with their six schizophrenic sons, the subjects of Robert Kolkers forthcoming Hidden Valley Road. Over the course of decades, including times when medical orthodoxy was often intensely hostile to the idea of heritability in the diseases that devastated their families, the two American clans became significant factors in advancing genetic research into cancer and schizophrenia.

Together, their family stories touch on most of the burning issues in contemporary medicine, including the role of genes and their complex interplay with environmental factors in our fates, and the related issues of privacy, family ties and agencyespecially when it comes to the question of having children. There is something more, too, running through both books: the terror of choice. How many of us really want to know our likely futures or, even more forebodingly, those of our offspring?

READ:I am mine: This is what Alzheimers is like at 41

For Indiana-born McKay, now a well-known Nova Scotia-based novelist (The Birth House, The Virgin Cure), learning whether she carried the genetic mutation that had shortened her ancestors lives for more than a century was not an easy call. In 2000, after researchers finally detected the specific mutation that applied to our family through my moms DNA, I was one of the earliest to be asked if I wanted to be tested, she says in an interview. McKay, then 32, was slow to take up the offer because to know would be to have this thing that sits in the back of your head and doesnt go awayyou could never go back to being the way you were. Two factors finally sent her to the hospital lab in mid-September 2001, when she was acutely aware of headlines proclaiming Americas new normal in the aftermath of 9/11. One reason to accept her own new normal was my mom saying, Look, you know weve gone down this path for generationsthink about the benefits when doctors can no longer tell you that maybe you only have the flu or that you dont really need a colonoscopy at such a young age. That, and the fact McKay already had two sons. The mutation was known to never reappear once the genetic line of transmission was broken. If McKay was clear, so were her boys. If she was not, I had to know for their sake as well as mine.

What McKay went to find out was whether she had any of the five genetic mutations associated with Lynch syndrome, specifically the one on the MSH2 gene that had ravaged her most direct ancestors and closest relatives. The mutation predisposes a person, early in life, to at least 13 kinds of cancer, from colon to ovarian to brainit brings an 85 per cent chance of colon cancer with an average onset at the age of 49. McKays uncle was diagnosed with cancer at 26, her grandmother at 50, her mother at 58. The syndrome is named after physician Henry Lynch, known as the father of cancer genetics, who picked up the barely flickering torch of cancer syndrome studies from a pioneering pathologist of the early 20th century, Aldred Warthin. But Warthins concept and supporting data came from his seamstress, Pauline GrossMcKays great-great auntwho mentioned to him in 1895 that she expected to die young, like so many in her family. (She did, at 46, from cancer.) Thanks to the detailed family chart Pauline Gross provided to Warthin, the list of known Gross victims dates back to 1856. We are, McKay writes, the longest and most detailed cancer genealogy in the world. For many years, that genealogy was possibly the greatest single factor in keeping alive the notion of heredity in cancer research.

The health records of the Galvins do not stretch as far back as the Grosses, but their family genetics played an even more pivotal research role in an era when mental health professionals were leaning hard into an understanding of schizophrenia as a psychological and not physical disease. The Galvin family, which eventually settled in Colorado Springs, Colo., began expanding in 1945, when U.S. Air Force officer Don Sr. and Mimi had their first child, Don Jr. It didnt stop until 1965, a year after the baby boom itself: 10 boys, followed by two girls.

READ:Why understanding the biology of our minds could cure autism and schizophrenia

Don Jr., a good athlete and average student, who was no trouble at all to his parentsthey ignored the severe beatings he imposed on his younger brothers while growing uphad his first psychotic break before his last sibling was born. His illness became worse at college, and he was soon back in the parental home, separated from his wife. Meanwhile, brother No. 2, James, who also married very young, began hearing voices and attacking his wife. After he had seemingly recovered, the youngest children were often sent to stay with him when Don Jr. made their lives too chaotic or frightening. James began to sexually abuse his sisters, who, as they later revealed, had been somewhat deadened to abuse because brother No. 4, Brian, had already molested them. In 1973, Brian, 22, prescribed antipsychotic drugs, killed his girlfriend and himself. Two years later, 15-year-old Peter, brother No. 10, had a psychotic break shortly after watching his father have a stroke before his eyes; in 1976, it was the turn of Matt, 17, brother No. 9. By late 1978, there were three Galvin boys in different wards of the same state mental hospital.

The last son to be diagnosed, Joe, brother No. 7, had troubled Peters doctors years before while visiting his hospitalized siblings, but he seemedif only relativelyfine to his family. But, after a series of personal losses, he too began being overwhelmed by hallucinations in 1982 at age 25. Joe later told his mother that a family friend, a Catholic priest to whom Don Sr. and Mimi had often entrusted their boys, had molested them, while Mimi revealed to her adult daughtersafter they had confronted her about sending them to Jamesthat she too had been sexually abused as a child, by her stepfather.

In short, the Galvin household offered a horrifically rich mine of potential evidence for any theory of schizophrenias causes. And it did so at a time when psychiatrys nature vs. nurture battle raged on, with many experts still holding to the schizophrenogenic mother explanation. That thesis, articulated by the influential German-American psychiatrist Frieda Fromm-Reichmann in 1948, tormented mid-century parents by blaming the disease on severe early warp and rejection in infancy and childhood, as a rule, mainly from a schizophrenogenic mother. It didnt help that Mimia perfectionist averse to praising her children and secretly troubled by her own traumafit the (false) mother-as-bogeyman profile to a T. But if Mimi herself and the vast set of triggers that might have influenced her sons individual psychoses interested some psychiatrists, the basic Galvin arithmeticsix boys in one familycaptured the attention of researchers seeking a physical cause. By the mid-1980s they had collected blood samples from the Galvins, which soonunbeknownst to the familybecame part of numerous studies.

It was 2016 before the right test offered a breakthrough. Researchers worked with the DNA of only nine families, all of which had to have at least three individuals with schizophrenia and three without. The goal was to find a common genetic mutation, even if it was common only to a particular family, because that abnormality could indicate an overall biochemical pathway to schizophrenia. The study found it in all seven Galvin brothers who had provided blood (two had refused), in the SHANK2 gene, which encodes the proteins that help brain synapses transmit signals. Its not a smoking-gun cause-of-schizophrenia gene, but it does offer the potential pathway the researchers sought, even as it raises this question: why, when its likely all the siblings have that mutation, did some develop serious mental illness and others did not?

READ:What do you do when your wife starts talking to the devil?

In November 2016, after researchers had told the Galvin daughterstheir main points of contact with the familyabout what they had been doing with the family blood for decades and the SHANK2 findings, Margaret Galvin organized what she called a blood-drawing party for non-afflicted family members. These would provide control samples for further research. Shouldve been on Halloween, she joked to author Kolker. Some invitees came, those ready to acknowledge their genetic heritage, and some did not.

The family gatherings, the absent relatives and the fortifying humour are all ties that link the Grosses and the Galvins. These are familiar notes to McKay, who describes her family reunions in terms of everyday organizing: I bring the potato salad, you bring the pecan pie, we talk about cancer. As for those who fear advance knowledge of the future, McKays empathy can be interspersed with anger if children are involved. Likewise, the Galvin daughters investigated the chances of passing their brothers health onto their own children before they became pregnant, and watched those kids like hawks for any indication that early intervention was needed.

McKay still feels the same about knowing the truth for the sake of her children even though her own news did not turn out well: she has the mutation, and so too do both her sons. What matters now, she says, is to draw the key lesson: Do things now, dont waitand dont let this thing define your life.

This article appears in print in the March 2020 issue of Macleans magazine with the headline, Betrayed by their genes. Subscribe to the monthly print magazine here.

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Families betrayed by their own genes - Maclean's

Scientists around the world are scrambling to develop a vaccine to stop the spread of the new coronavirus, but the best candidate might be an experimental one stored in a Houston freezer.

The vaccine, developed by researchers at Baylor College of Medicine and University of Texas Medical Branch at Galveston researchers, effectively protected mice against SARS, or severe acute respiratory syndrome, the virus from the same family that spread in the early 2000s. The vaccine never progressed to human testing because manufacturing of it wasnt completed until 2016, long after SARS had burned out.

It generated zero interest from pharmaceutical companies, said Peter Hotez, a Baylor vaccine researcher and infectious disease specialist. Because the virus was no longer circulating, their response was essentially, thanks, but no thanks.

Hotez thinks the vaccine-in-storage can provide cross-protection against the new coronavirus, now officially named COVID-19, whose spread through China and, increasingly, to other countries has the world on edge. The virus, first detected in Wuhan, China, has now infected more than 75,000 people and killed more than 2,200, more than the 774 deaths from SARS. Although the bulk of the cases and deaths have occurred in China, COVID-19 now has been confirmed in 28 countries, the U.S. among them.

On HoustonChronicle.com: Coronavirus fears weigh on Houston economy as oil prices fall, businesses lose customers

The 34 cases in the United States 21 repatriated individuals and 13 travelers who fell ill after returning include three in Texas, an American citizen who was part of a group evacuated from China on a State Department-chartered flight, and two citizens on the Diamond Princess cruise ship. All three were taken to Lackland Air Force Base in San Antonio.

The Baylor-UTMB vaccine looks promising for COVID-19 because the virus so resembles SARS Hotez calls it SARS-2 which circulated between November 2002 and July 2003, mostly in mainland China and Hong Kong but also in Toronto, whose economy was so badly wrought by the outbreak that it needed a boost from a benefit concert featuring the Rolling Stones, Justin Timberlake and others to help shake the effects.

COVID-19 shares 82 percent of its genes with SARS and infects people through the same cell receptor, one of the spike-like proteins that stud the surface of coronaviruses and gives the family their name. The viruses originally jump from animals to people.

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The two viruses, which have mostly resulted in deaths in the elderly and people with serious underlying conditions, both can cause a severe form of viral pneumonia characterized by fever, cough and breathing difficulties. The early thinking is that COVID-19 is less lethal than SARS but more contagious.

There is no licensed treatment or vaccine for either, just supportive care focused on the symptoms.

The hope that the Baylor-UTMB vaccine should provide at least some, if not full, protection has had Hotez working the telephone the last few weeks, pleading with pharmaceutical companies and federal scientific agencies to pony up the funding needed to move the vaccine into clinical testing. The vaccine is still a candidate for such testing because the team has tested its continuing usefulness every six months, when it removes a sample from the freezer.

It may require some tweaking, but its stable, said Dr. James LeDuc, director of the Galveston National Laboratory on the UTMB Galveston campus. Every virus is different, features some adaptations.

The laboratory, a high-security biocontainment facility for the study of exotic disease, recently received the live COVID-19, which it will use to test the vaccine in mice, to see whether the SARS vaccine protects against it too. The labs researchers created mice engineered to replicate the human disease.

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Funding for clinical trials remains the big hurdle. Even with the new coronavirus circulating, Hotez has found few nibbles from pharmaceutical companies beyond the request to keep them informed and the suggestion their interest would pick up if the new coronavirus becomes a seasonal infection, like the flu.

Instead, Hotez is pinning his hopes for clinical trial funding on two grant proposals one to the British government; and another to the Coalition for Epidemic Preparedness Innovations, an Oslo-based coalition of charities (the Bill and Melinda Gates Foundation is a sponsor) and governments that aims to derail epidemics by speeding up the development of vaccines.

The Baylor-UTMB venture is just one of the many ongoing efforts to halt the coronavirus epidemic. About 300 scientists dialed in remotely to a World Health Organization meeting last week to fast-track tests, drugs and vaccines to help slow the outbreak. UT-Austin scientists published a paper in Science on their creation of the first 3D atomic-scale map of the spike protein the part of the virus that attaches to and infects human cells that should provide a road map for better vaccine development.

At least eight initiatives to develop new vaccines have been announced, most of which use new technology, such as a type sometimes called genetic immunization, that is considered highly promising but has not yet led to licensure. One Houston firm, Greffex, said it has used genetic engineering to create a COVID-19 vaccine it will now take to animal testing.

Hotez said he thinks the Baylor-UTMB vaccine has an advantage because its already been successfully tested in animals and because its based on classic vaccine technology, the same technology used, for instance, in approved vaccines for Hepatitis B and the human papillomavirus. He said the less-than-perfect match should provide protection in the same way flu vaccines provide protection even though theyre not perfect matches.

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In addition to repurposing the SARS vaccine, the Baylor-UTMB team is working to develop a new vaccine targeting COVID-19. But Hotez acknowledged that work will take longer than the SARS vaccine. He said hes surprised Chinese officials havent reached out to him about testing the vaccine in China.

Baylors work is conducted through its Texas Childrens Hospital Center for Vaccine Development, whose mission involves fighting public health threats that affect people who live in poverty such as neglected tropical diseases and coronaviruses. It has made vaccines for neglected tropical diseases Chagas disease, schistosomiasis and hookworm, and the coronavirus MERS, or Middle East respiratory syndrome, the camel flu that originated in Saudi Arabia in 2012 and later was confirmed in South Korea. Unlike SARS, MERS does not resemble COVID-19.

On HoustonChronicle.com: Why Houston is uniquely situated to be better prepared for the coronavirus threat

But the question is, can any vaccine make it through clinical testing in time to make a difference in the fight against an emerging epidemic or pandemic?

LeDuc noted that there are no shortcuts to the testing required to prove vaccines are safe and effective in people, a process he acknowledges could take a year, during which time the disease may burn out.

Hotez said the only thing that might expedite testing is if the spread of the disease becomes dire, a sobering thought that some public health officials think is looking more and more likely as COVID-19 is diagnosed in more countries.

It is why Hotez laments the missed opportunities to develop and stockpile vaccines for SARS, MERS and even Zika, the mosquito-borne infection that emerged in 2014-2017 but then burned out.

Its like little kids soccer games where everyone just follows the ball, said Hotez. They all run to the ball when its one spot, then to the next spot where it goes and then the one after that. No one stays at the goal to play defense.

todd.ackerman@chron.com

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Is the vaccine to thwart the new coronavirus stored in a Houston freezer? - Houston Chronicle

By Jonny Lupsha, News Writer

According to NPR, trained alert dogs for diabetic owners sell for up to tens of thousands of dollars, and business is booming. The diabetic alert dog industry is unstandardized and largely unregulated, and the science on a dogs ability to reliably sniff out blood sugar changes is, at best, inconclusive, the article said. Several [dog training companies] have faced lawsuits or complaints recently from consumers who bought diabetic alert dogs that they say dont work. In Texas, a group of more than a dozen dog buyers sued a trainer for fraud and won a judgment for $800,000.

The article also cited a 2017 study that found that only three of 14 diabetic alert dogs tested better than random chance at detecting a change in a humans blood sugar levels. While diabetes affects more than 30 million Americans, many diabetics would benefit from learning more about the basic fundamentals of the disease, its treatment, and the serious consequences of not taking care of their health.

There are three types of diabetes mellitus: insulin-dependent type 1 diabetes can develop at any age, though it used to be considered juvenile diabetes presenting in children; non-insulin-dependent, or adult-onset, type 2 diabetes is the most common and usually presents in adults; and gestational diabetes occurs during pregnancy, and may or may not go away after childbirth. Professor Roberta H. Anding, Director of Sports Nutrition and a clinical dietitian at Baylor College of Medicine and Texas Childrens Hospital, said that 80 percent to 90 percent of diabetics suffer from type 2 diabetes. But what is type 2 diabetes?

In this case, the body makes insulin, but its not being effectively used by the body, Professor Anding said. This is diagnosed by having a fasting blood sugar of greater than 126 milliliters per deciliter, or an oral glucose tolerance test of greater than 200.

Studies of identical twins overwhelmingly show that type 2 diabetes is genetic. If one twin gets diabetes, the chance that the other twin gets diabetes is three out of four, Professor Anding said. We have now identified multiple different genes, or loci on genes, that will suggest that yes, there are some higher risk individuals. The Human Genome Project has identified over 17 genetic loci strongly associated with type 2 diabetes.

Despite genetics playing a major part in contracting type 2 diabetes, our environment also comes into play. One prevention study called the Diabetes Prevention Program did research into how effective diabetes prevention could be when properly applied, and the results were stunning.

They assigned people with blood sugars that were just below the level of pre-diabetes to one of three groups: placebo, standard care; metformin, which is a medication that is used to control diabetes; or lifestyle intervention, Professor Anding said. The lifestyle intervention included two and a half hours per week of physical activity and a healthier, low-fat, low-calorie diet.

Lifestyle intervention reduced the incidence of diabetes by 58 percent, where traditional pharmacology that is used for the same kind of circumstance reduced it by 31 percent.

Cutting calories is a good start, Professor Anding said, but controlling which fats you eat helps as well. She cited a high intake of omega-3 and omega-6 polyunsaturated fats as leading to lower risks of diabetes, as do diets with a lot of whole grains and cereal fiber.

Following diabetes prevention steps through healthy living has plenty of scientific backing, unlike the trend in using diabetic alert dogs to detect low sugars in diabetics.

Professor Roberta H. Anding contributed to this article. Professor Anding is a registered dietitian and Director of Sports Nutrition and a clinical dietitian at Baylor College of Medicine and Texas Childrens Hospital. She received her bachelors degree in Dietetics and her masters degree in Nutrition from Louisiana State University.

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Lawsuits Mount as Alert Dogs for Diabetics Fail to Live Up to Expectations - The Great Courses Daily News

Though common, these big phages would have been completely missed by traditional lab techniques. It used to be that scientists could only discover viruses by first growing themand they often filtered out anything above a certain size. In science, you tend to find what you look for. The huge phages dont fit the standard conception of what a virus should be, so no one went looking for them. But Banfield used a different method, which she pioneered in the 1990s: Her team took environmental samplesscoops of soil or drops of waterand simply analyzed all the DNA within to see what popped out. And once Banfield realized that the huge phages existed, it wasnt hard to find more.

Read: Beware the Medusavirus

Her team, including researchers Basem Al-Shayeb and Rohan Sachdeva, identified huge phages in French lakes, in Tibetan springs, and on the Japanese seafloor. They found the viruses in geysers in Utah, salt from Chiles Atacama Desert, stomach samples from Alaskan moose, a neonatal intensive-care unit in Pittsburgh, and spit samples from Californian women. All of these phages have at least 200,000 DNA letters in their genome, and the largest of them has 735,000.

The team included researchers from nine countries, and so named the new viruses using words for huge in their respective languages. Hence: Mahaphage (Sanskrit), Kaempephage (Danish), Kyodaiphage (Japanese), and Jabbarphage (Arabic), but also Whopperphage (American English).

These huge phages have other strange characteristics. With so much DNA, the viruses are probably physically bigger than typical phages, which means that they likely reproduce in unusual ways. When phages infect bacteria, they normally make hundreds of copies of themselves before exploding outwards. But Banfield says that an average bacterium doesnt have enough room to host hundreds of huge phages. The giant viruses can probably only make a few copies of themselves at a timea strategy more akin to that of humans or elephants, which only raise a few young at a time, than to the reproduction of rodents or most insects, which produce large numbers of offspring.

Giant phages also seem to exert more control over their bacterial hosts than a typical virus. All viruses co-opt their hosts resources to build more copies of themselves, but the huge phages seem to carry out a much more thorough and directed takeover, Banfield says. Their target is the ribosomea manufacturing plant found in all living cells, which reads the information encoded in genes and uses that to build proteins. The huge phages seem equipped to fully commandeer the ribosome so that it ignores the hosts genes, and instead devotes itself to building viral proteins.

This takeover involves an unorthodox use of CRISPR. Long before humans discovered CRISPR and used it to edit DNA, bacteria invented it as a way of defending themselves against viruses. The bacteria store genetic snippets of phages that have previously attacked them, and use these to send destructive scissorlike enzymes after new waves of assailants. But Banfields team found that some huge phages have their own versions of CRISPR, which they use in two ways. First, they direct their own scissors at bacterial genes, which partly explains why they can so thoroughly take over the ribosomes of their hosts. Second, they seem to redirect the bacterial scissors into attacking other phages. They actually boost their hosts immune system to take out the competition.

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A Huge Discovery in the World of Viruses - The Atlantic

Feb 21, 2020 03:56 PM EST

Parallel to the rapid spread of coronavirus from Wuhan China to 25 countries across the globe, spread of myths and even scientific studies with no peer reviews or 'preprints' on the novel virus has become viral and is contributing to fear and panic across the globe.

Even public health scientists have issued a statement condemning conspiracy theory claims on the origin of coronavirus. To combat confusions, World Health Organization stepped up and called for promotion the of scientific evidence and unity over misinformation and conjecture.

Preprints

Some scientific reports have linked coronavirus to AIDS, snakes, and even to pathogens from outer space. Reuters estimate that there are at least 153 studies ranging from genetic analyses, epidemiological papers, genetic analyses, and clinical reports from 675 researchers around the globe since the outbreak started. In contrast, during the SARS outbreak in 2003, such number of papers were published after more than a year from the outbreak.

The outbreak, according to Tom Sheldon, a science communications specialist at Britain's non-profit Science Media Centre led to the rise of "preprints" - or a practice in which a researcher immediately posts their findings online without external checks, scrutiny or validation. This, according to Sheldon leads to misinformation, fake-news leading to fear, panic, and confusion of the public.

Scientists Condemn Bogus Coronavirus Conspiracy Theory

Public health scientists yesterday issued a statement published in Lancelet condemning multiple social media posts and even a scientific paper speculating the possibility that COVID-19 has no natural origin, and that the virus was bioengineered in the laboratory.

The statement declared that based on studies, scientists from multiple countries overwhelmingly conclude that the 2019 new coronavirus originated from wildlife. "Conspiracy theories do nothing but create fear, rumors, and prejudice that jeopardize our global collaboration in the fight against this virus," the statement adds. It also issued support to Chinese public health workers and scientists who are in the front line of fighting the disease.

Earlier, multiple media posts also claimed that coronavirus has been patented and that a vaccine is already available was debunked by Factcheck.Org, clarifying that there is no available vaccine for the 2019 novel coronavirus, and there is no patent available yet.

It turned out that the patent being referred to is genetic sequence of the virus that causes SARS, or severe acute respiratory syndrome, a disease that spread to dozensof countries in 2003, and of avian infectious bronchitis virus, or IBV, which infects poultry, and was developed to prevent and control viral diseases of livestocks.

WHO Steps Up to Bust Myths

As fears and misconceptions rapidly spread online, World Health Organization (WHO) Director General called for promotion of scientific evidence and unity over misinformation and conjecture. Graphics featuring myths busted by the WHO were created for easy downloading and dissemination.

Important and life-saving advisory such as the pneumococcal vaccine and the Haemophilus influenza type B do not provide protection against the new virus, or that there is no evidence that companion pets such as cats or dogs can be infected by coronavirus are among the those highlighted in the WHO advisory.

2018 NatureWorldNews.com All rights reserved. Do not reproduce without permission.

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The Viral Spread of Coronavirus Research and Myths - Nature World News

Indiana University trustees have approved the appointment of 15 faculty members as distinguished professors, IU's highest academic title for its most outstanding and renowned scholars and researchers. This is the largest number of new distinguished professors to be appointed in the university's history.

The record number is being recognized in honor of IU's Bicentennial Year and to highlight the remarkable research, scholarship and creative accomplishments of IU's past and present faculty as well as their public impact over the past 200 years.

"Faculty honored with the title of distinguished professor -- a title reserved for only the most highly acclaimed and accomplished IU faculty -- truly are among the finest scholars and researchers in the world," IU President Michael A. McRobbie said. "This prestigious appointment celebrates those who have earned national and international recognition and who have strengthened and transformed their fields of study through their research, scholarship, innovation and creative contributions to the world. They were chosen from the largest and best pool of candidates in IU's history.

"Our students and our campuses benefit enormously from the superb academic achievements, engagement and academic integrity of the faculty who have earned appointment as IU distinguished professor and who have been central to the reputation for excellence that IU enjoys as it begins its third century."

Distinguished Professor Symposia in Bloomington and Indianapolis to honor the 15 new distinguished professors will be announced in the coming weeks. Below are brief biographies of the appointees:

Lisa Blomgren Amsler is the Keller-Runden Professor of Public Service in the O'Neill School of Public and Environmental Affairs. Her research examines dispute systems design and the legal infrastructure for collaboration, dispute resolution and public participation in governance. She has co-edited three books and authored more than 120 articles, monographs and book chapters. She joined the IU faculty in 1989 after practicing labor and employment law.

Lynda Bonewald is a professor of anatomy and cell biology and of orthopedic surgery in the School of Medicine. She is the founding director of the Indiana Center for Musculoskeletal Health, which has more than 100 members from 36 departments on four campuses. She has been continually funded by National Institutes of Health for more than 30 years and is responsible for tools used by researchers globally to determine osteocyte biology and function.

Ann Elsner is a professor in the School of Optometry. Her research led to the discovery that infrared light can image the retina, and she has studied a range of retinal pathologies with a focus on diabetic retinopathy, age-related macular degeneration and normal aging of the eye.

Loren Field is a professor of medicine, of physiology and biophysics, and of pediatrics in the School of Medicine. Field and his IU colleagues were the first to show that relatively simple genetic modifications can induce mammalian heart cells to regenerate. His current research is focused on identifying genes and molecules that promote heart muscle regeneration by coaxing healthy cells to proliferate. The success of this research would offer the potential for seriously ill patients whose tissue has been damaged by heart attack to "re-grow" their own hearts.

Charles Geyh is the John F. Kimberling Chair and professor in the Maurer School of Law. His scholarship focuses on the operation of state and federal courts in relation to the political branches of government and the legal profession. His work on judicial independence, accountability, administration and ethics has appeared in more than 80 books, articles, book chapters, reports and other publications.

David Giedroc is a Lilly Chemistry Alumni Professor and director of the Graduate Training Program in Quantitative and Chemical Biology in the College of Arts and Sciences' Department of Biology. His research interests include the biophysical chemistry of infectious disease. Giedroc is a fellow of the American Association for the Advancement of Science and the Royal Society of Chemistry.

Jeffrey Gould is a Rudy Professor of History in the College of Arts and Sciences' Department of History. He is a groundbreaking historian, writer and filmmaker whose work has transformed scholarship on social movements in Nicaragua and El Salvador. He helped build the Center for Latin American and Caribbean Studies into one of the leading research centers of its kind. He's authored several books and articles, and several have been published in Spanish.

Roger Innes is a Class of 1954 Professor of Biology in the College of Arts and Sciences' Department of Biology. His lab work primarily focuses on understanding the genetic and biochemical basis of disease resistance in plants. He's investigating how plants are able to recognize pathogens and actively respond. The research is funded by two grants from the NIH and has recently been featured in the European journal International Innovation.

Filippo Menczer is a professor of informatics and computer science in the Luddy School of Informatics, Computing and Engineering. His research, supported by the National Science Foundation, Department of Defense, McDonnell Foundation and Democracy Fund, focuses on web and data science, social network analysis, social computation, web mining and modeling of complex information networks. His work on the spread of information and misinformation on social media has been covered by many national and international news outlets.

Mark Messier is a Rudy Professor of Physics in the College of Arts and Sciences' Department of Physics. His research focuses on the experimental study of neutrinos, which are among the most abundant particles in the universe. He is a member of the Deep Underground Neutrino Experiment, which is made up of more than 1,000 collaborators from 190 institutions in over 30 countries. DUNE advances work in each of the key areas of physics research.

Osamu James Nakagawa is the Ruth N. Halls Professor and professor of photography and studio art in the Eskenazi School of Art, Architecture + Design. His photography has been published, reviewed and exhibited internationally. He has permanent collections on display at several museums, including the Metropolitan Museum of Art in New York, the International Museum of Photography at the George Eastman House, the Tokyo Metropolitan Museum of Photography and the Museum of Contemporary Photography in Chicago.

G. David Roodman is the Kenneth Wiseman Professor of Medicine in the School of Medicine. His research focuses on osteoclasts and osteoblast activity in both normal and pathological states, including Paget's disease and multiple myeloma. Roodman's lab pioneered the development of long-term marrow culture techniques to study osteoclast differentiation and activity.

Chandan Sen is the J. Stanley Battersby Chair and professor of surgery at the School of Medicine. He and a team of more than 30 scientists study how to tap into the power of regenerative medicine and engineering to heal burns, develop new therapies for diabetic complications, treat injured soldiers and even regrow damaged and diseased tissue. Sen has published more than 300 articles and is cited more than 900 times a year in literature.

Marietta Simpson is a Rudy Professor of Music in the Jacobs School of Music. She is one of the most sought-after mezzo-sopranos and is greatly admired for the rich beauty of her deeply expressive voice. Simpson has performed with many of the world's great conductors and has performed with all the major orchestras in the U.S. and most of those in Europe.

David Williams is the Harry G. Day Chair and Professor of Chemistry in the College of Arts and Sciences' Department of Chemistry. He is an internationally recognized scientist in the field of organic chemistry. His research is focused on the synthesis of biologically active natural products and the development of new reaction methods. He serves on a number of advisory boards, including for the NI H. Williams is a fellow of the American Association for the Advancement of Science.

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Record number of faculty appointed as distinguished professors in honor of IU's Bicentennial Year - IU Newsroom

According to a recent study, increased levels of stress hormone cortisol in young children who are separated from their parents, especially mothers, could have a long-term genetic impact on future generations.

In an analysis published by the Journal of the Royal Society of Medicine, experts in the emotional needs of small children say that several studies show that small children cared for outside the home, especially in poor quality care and for 30 or more hours per week, have higher levels of cortisol than children at home.

Professor Sir Denis Pereira Gray, who wrote the paper with two colleagues, said: Cortisol release is a normal response to stress in mammals facing an emergency and is usually useful. However, sustained cortisol release over hours or days can be harmful.

The authors said that raised cortisol levels are a sign of stress and that the time children spend with their parents is biologically more important than is often realised.

Raised cortisol levels are associated with reduced antibody levels and changes in those parts of the brain which are associated with emotional stability.

Environmental factors interact with genes so that genes can be altered, and once altered by adverse childhood experiences, can pass to future generations. Such epigenetic effects need urgent study, said the authors.

Sir Denis added: Future research should explore the links between the care of small children in different settings, their cortisol levels, DNA, and behaviour.

(This story has been published from a wire agency feed without modifications to the text.)

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Stress in kids separated from parents may leave long-term genetic impact - Hindustan Times

Are you genetically predisposed to some diseases? Do you carry genetic mutations that can impact the health of your child? A debit card-sized IndiGenome card, recently unveiled by the government, will help you find the answers if your genetic information is captured in a database that India's umbrella research organisation - the Council of Scientific and Industrial Research (CSIR) - is building. Once your genome is sequenced from your blood sample and added to this database, the card can be used to read the information embedded in your genes, just as your debit card is used to generate a financial transaction statement from your bank's database.

Well, the card is not the key. Genome sequencing - or mapping the pattern of the basic building block of every living cell - is. A genome contains all of a living being's genetic material (simply put, the genome is divided into chromosomes, chromosomes contain genes, and genes are made of DNA). Each genome has approximately 3.2 billion DNA base pairs, and the way they are arranged, or variations and mutations in their pattern, can provide clues about the individual's health or ill health, inherited or acquired. Already, 1,008 individuals, chosen to represent India's social, ethnic and geographic diversity, have been issued such cards. Over 280 doctors in 70 institutions have been trained to make sense of such data. A CSIR institute, the Institute of Genomics and Integrative Biology (IGIB) - which is spearheading the Genomics for Public Health in India, also called IndiGen project - is planning to enrol 20,000 Indians for whole genome sequencing in the next couple of years to build a larger database. The data will be important for building the knowhow, baseline data and indigenous capacity in the emerging

area of precision medicine. IndiGen will have applications in a number of areas, including faster and more efficient diagnosis of rare diseases. The other benefits are cost-effective genetic tests, carrier screening applications for expectant couples, enabling efficient diagnosis of heritable cancers and pharmacogenetic tests to prevent adverse drug reactions.

In fact, IGIB leads two other programmes - Genomics for Understanding Rare Diseases India Alliance (GUaRDIAN) Network and Genomics and other Omics tools for Enabling Medical Decision (GOMED), led by Dr Mohammed Faruq, to see that the genome database and genetic screening leads to development of cost effective diagnostic tools and tests that are licensed out to private and public medical institutions.

The world over, fall in cost for genome sequencing (a reason for which is increase in computing power) is leading to path-breaking applications spanning the entire spectrum of healthcare - diagnosis to treatment and drug development to prevention and wellness - and unrelated fields such as agriculture, animal productivity, environment, sports and many more. Consider this: CSIR took six months to sequence the genomes of 1,008 Indians. Seventeen years ago, a global initiative led by the US National Academy of Sciences, had taken 12 years, and spent $3 billion, to complete the sequencing of the first human genome. Today, sequencing a person's genome does not cost more than $1,000. In fact, Sam Santosh, Chairman of MedGenome Labs, a private venture, says he can sequence a complete human genome in his Bengaluru lab for $500-600.

The Industry

The catalyst for the IndiGen project was advent of Next Generation Sequencing (NGS) in the last decade or so. (NGS helps an entire human genome to be sequenced in a day. The previous Sanger sequencing technology used to take over a decade.) The technology is being used by both IGIB and MedGenome for high-throughput sequencing, i.e. sequencing hundreds of thousands of genes in one go.

IndiGen is a good start but there are countries that are much ahead. Genomics England, a public-private partnership between the UK government and world's biggest NGS sequencing machine maker, Illumina, has completed sequencing of 1,00,000 genomes of British citizens comprising a mix of cancer patients, rare disorder patients and healthy people. A new agreement for sequencing of 3,00,000 genomes, with an option to increase it to 5,00,000 over the next five years, was signed by the two partners on January 13. "Countries such as Estonia and Iceland are attempting to sequence every single citizen and link the data with their health schemes. The US has decided to do it for every single rare disorder patient," says Praveen Gupta, Managing Director & Founder, Premas Life Sciences - the authorised partner of US-based Illumina in India.

"The global high-throughput genomics industry will be in the range of $10-12 billion. With an estimated 25-30 per cent annual growth, it is expected to become a $25-30 billion market in the next three-four years," he says. Premas sells tools (reagents, platforms, software, training) to labs that do genetic testing in India. With 90 per cent market share, it drives NGS technology in India, too. "The high-throughput genomics market in India, including reagents, instruments and services, will be about Rs 500 crore. Approximately 50,000 samples must be reaching India's clinical (service) market on an annual basis," says Gupta.

Dr Sridhar Sivasubbu and Dr Vinod Scaria, IGIB scientists at the forefront of the IndiGen programme, say genome sequencing is just one piece of the initiative. IGIB has two other programmes - Genomics for Understanding Rare Diseases India Alliance (GUaRDIAN) Network and Genomics and Other Omics Tools for Enabling Medical Decision (GOMED) - to ensure their genome database and genetic screening lead to development of cost-effective diagnostic tools and tests that can be licensed out to private and public healthcare institutions. "GUaRDIAN focuses on rare diseases. Given that we are a billion-plus people, even the rarest of the rare diseases is found in a few lakh people. So, this programme caters to 70 million people living with some genetic disease. We find technological solutions for these 7,000-odd diseases and partner with a network of 280 clinicians across 70-odd institutions to offer our solutions," says Sivasubbu.

"Patients and their families connect with us through the GUaRDIAN network. We sequence their genes to find the mutation, and once we find it, we go back to their communities with a cost-effective test to identify that mutation. You just have to look for that single mutation in others, and that's cost-effective," says Scaria. Instead of whole genome sequencing, which costs between Rs 50,000 and Rs 1,00,000, a single assay developed by IGIB through these programmes costs Rs 2,000. The team led by Sivasubbu and Scaria has developed 180 tests for 180 genes and transferred the technology to private diagnostic labs. The institute itself has catered to about 10,000 patients and carried about 25,000 tests in the last two years. "We have entered into partnerships with about a dozen companies. The format of the collaboration depends on the business models they follow," says Sivasubbu.

Premas Life Sciences

The authorised partner of US-based Illumina in India provides tools (reagents, platforms, software, training and troubleshooting) to labs engaged in genetic testing in India. With 90 per cent market share, it drives the New Generation Sequencing technology in India

It works in areas other than healthcare, too. For example, Tagtaste, an online platform for food professionals, uses the company's services to understand the genomics of taste. It has customers and partners such as Pepsico, Coca Cola, Nestle and ITC

Dr Lal PathLabs

The company has licensed diagnostic tests for 27 conditions from Institute of Genomics and Integrative Biology (IGIB)

Has a portfolio of more than 200 different types of tests

It is active in fields like rep- roductive health, cancer di- agnosis, pharmacogenomics

Medgenome Labs

The Bengaluru-based player considers itself as the private sector avatar of IGIB. It offers not just genetic tests but also carries out research. It has collaborated with Singapore's Nanyang Technological University to sequence 1,00,000 whole genomes from Asia. The Genome Asia project has already completed sequencing 10,000 whole genomes, of which about 8,000 are from India

MedGenomes research associates recently sequenced and analysed the genome of the Cobra snake. The findings, published in Nature, suggest the possibility of developing a new method of producing anti-venom completely in the lab.

Lifecell International

The company is in the genetic testing space. It has tied up with IGIB and offers tests ranging from basic screening (prenatal screening, newborn screening, etc) to high-end ones based on NGS. It tests more than 50,000 patient samples every month

Mahajan Imaging

The company has set up a new R&D wing to focus on cutting-edge scientific and clinical research and help radiology and genomics companies develop world-class clinically relevant products. The idea is to integrate imaging and genomic data

Trivitron Healthcare

The Chennai-based chain wants to develop tools using genomic data that can work on conventional platforms. It is talking to IGIB and trying to get its knowhow for manufacture of products for sale to pathology labs

The Private Hand

Dr Lal PathLabs, a pathology lab chain with big plans in the genetic testing space, has an entire department for such tests. "We offer tests of all levels - Karyotyping, which looks at the macro level, Microarrays, which offer intermediate resolution, and NGS, used to elucidate the DNA sequence at the micro level. The fields we are active in include prenatal reproductive health, cancer diagnosis and pharmacogenomics (study of how genes affect a person's response to drugs). We have more than 200 tests and conduct around 300 tests per day," says Dr Vandana Lal, Executive Director, Dr Lal PathLabs. The company has licensed tests for 27 conditions from IGIB. "The imported technology is expensive. The idea to partner with CSIR labs is to bring these cutting-edge technologies to Indian masses at a reasonable cost," says Dr Lal.

Lifecell International is another player in the genetic testing space that has tied up IGIB. "We offer tests ranging from basic screening (prenatal screening, newborn screening, etc.) to high-end ones based on NGS. We test more than 50,000 samples a month. PCR-based tests range from Rs 2,000-5,000 whereas tests based on NGS and those involving sequencing of large parts of the genome can cost upwards of Rs 20,000," says Ishaan Khanna, CEO, Biobank & Diagnostics, Lifecell. He believes the IndiGen database will help in development of better analysis and interpretation tools. "Our focus is on developing rapid genome testing for children in NICU (Neonatal ICU) and similar other scenarios where doctors need clear actionable results in the shortest possible time. IndiGen provides the right mix of Indian genome database," he says.

But not every partnership is for access to cost-effective tests. Mahajan Imaging, a medical imaging chain, has set up a Centre for Advanced Research in Imaging, Neuroscience and Genomics to focus on research and helping radiology and genomics companies develop clinically relevant products. The idea is to integrate imaging and genomic data. "We started the project six months ago and are among the first imaging companies to get into genomics. In the next three-five years, it will be possible for an AI algorithm to look at the radiology image and give genomic readings on it," says Vidur Mahajan, Associate Director, Mahajan Imaging.

Chennai-based Trivitron Healthcare sees in IndiGene data an opportunity to develop multiple testing platforms. It wants to develop tools using genomic data that can work on conventional platforms. "There are almost 1,00,000 pathology labs in India. Hardly 500-1,000 must be doing genetic testing. Companies like ours are talking to IGIB and trying to get the knowhow to manufacture products for a larger population," says Jameel Ahmad Khan, Head, R&D, Trivitron. "IGIB will develop the knowhow, provide proof of concept, and we will convert it into a product which pathology labs without highly trained manpower can also run," he says.

Bengaluru-based Medgenome Labs considers itself a private sector avatar of IGIB, perhaps even a couple of years ahead in research and development. The company not only does genetic tests but also carries out research. It has collaborated with Singapore's Nanyang Technological University to sequence 1,00,000 whole genomes from Asia. The Genome Asia project has already completed sequencing of 10,000 whole genomes, of which about 8,000 are from India. On December 4, international journal Nature published the initial findings from the project - genetic variation, population structure, disease associations, etc., from a whole-genome sequencing reference dataset of 1,739 individuals of 219 population groups and 64 countries across Asia. "We sequence a person's genes and other relevant parts of the genome for specific mutations to understand what is causing the disease and specific drugs and dosage the person will respond to. We also help pharmaceutical companies understand genomes and discover new drug targets and biomarkers," says Sam Santosh, Chairman, MedGenome. With about 120 sales people, the company claims it is generating samples from around 10,000 clinicians across the country. "We were the first to enter the market. In that sense, we created the market, and would be having 60-65 per cent market share. The sequencing market must be in the range of $70-75 million," says Santosh. The company expects its diagnostic business to touch $100 million in four years. Interestingly, MedGenome's research associates recently sequenced and analysed the genome of Cobra snake. The findings, published in Nature, suggest the possibility of developing a new method of producing anti-venom completely in the lab.

Other Sectors

Illumina's India partner Premas Life Sciences is not selling its next generation sequencers only to healthcare firms. Gupta says it has more than 200 installations in India alone. "Anything which is living has a DNA nucleic acid and can be sequenced. We have a mass research market and practically every institute has the sequencer. Somebody will be working on cow, somebody on rice, a third institute on some bacteria," says Gupta.

IGIB researchers Dr Sridhar Sivasubbu and Dr Vinod Scaria vouch for this. The institute is getting requests, including partnership offers, from non-medical players. Tagtaste, an online platform for food professionals, wants to understand the genomics of taste. "In a lighter vein, you could say that the efficiency of a professional wine taster depends on his genes," says Scaria. With customers and partners such as Pepsico, Coca Cola, Nestle and ITC, and a clientele that includes chefs of global hotel chains, taste is serious business. "The point is, if a person is paying Rs 3,000 for a curry or Rs 5,000 for a soup, you better get the taste right," says Scaria. IGIB also works with Adam's Genetics for R&D and product development in the area of fitness. "One of the companies works in the cricket industry. Each player can be genetically tested for performance and food intake because not all muscles have the same size and some people gain weight, some don't gain muscle mass, while some may be more prone to injury. Genetic tests can find out who is prone to injury, or whether weightlifting is the right exercise for a player or not," says Sivasubbu.

The Future

Indians are 17 per cent of the world's population. But only 0.2 per cent genomic data is from the Indian population. This is one area where India can lead. We have so many diseases, and if we can provide the genetic design, the world can develop diagnostics and therapies. "We can create ideas. We didn't invent computers but we created the IT industry. In the same way, we didn't invent genomic sequences but tomorrow we can create a genome informatics economy," says Premas' Gupta.

There are other possibilities, too. "A lot of pundits say that in the next five-six years, 15 per cent of the world's population will be whole genome sequenced. If I require 100 GB data for a genome sequence, for 1.5 billion people, 25-30 exabytes of data will be needed. The entire data content on YouTube, globally, is 0.8 exabytes. Imagine the kind of data generation and analytics possibilities we are talking about," says Gupta. "We need people to analyse this data. If we can take the lead and train our manpower, we can move the world, we can create a new industry which can lead for the next 20 years just the way the IT industry did," he adds. Incidentally, Gupta claims that TCS has already bought Illumina's sequencing platform. So has WIPRO. It seems IT companies are already sensing an opportunity.

Sivasubbu says it took India 10 years to scale up from sequencing one genome to 1,000 genomes. "In the next decade, it may be a million."

@joecmathew

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The Gene Business - Business Today

The fountain of youth may be lurking in the DNA of a remarkable fish which manages to survive out of water for several lifetimes.

African turquoise killifish which are native to Zimbabwe and Mozambique, inhabit shallow puddles that are prone to drying out, leaving the fish stranded for large parts of the year.

But to beat the problem, killifish embryos enter a state of suspended animation called diapause where they essentially stop the clock until the rain returns and they resume life as if nothing has happened.

Now scientists at Stanford University and theStowers Institute for Medical Researchhave worked out how they do it and believe it could help humans prevent ageing, or even hibernate, which might be necessary on lengthy journeys into space.

A study of killifish DNA showed that during diapause, genes which trigger the rapid turnover of cells dial down, as do those involved in metabolism, while those involved in muscle maintenance become more active.

Scientists are now keen to find out if activating the same genes in humans could prevent ageing and disease in later life.

The killifish lives in transient ponds that are only present during the rainy season and entirely desiccate during the dry season, the authors wrote in the journal Science.

To survive the long drought and enable perpetuation of the species, African killifish embryos enter diapause.

Although features of diapause have been described in killifish species the mechanisms by which diapause protects organisms remain unknown.

The time spent in diapause does not come with observed tradeoffs for future life, and diapause confers protective mechanisms to complex organs against damage caused by the passage of time.

Killifish survive for around four to six months so can complete their lifecycle and spawn before their puddle drys out.

Commenting on the research, Marc Van Gilst, of the Department of Anesthesiology and Pain Medicine, University of Washington, Seattle, said: In the simplest sense, aging is considered the inevitable wear and tear brought on by the passage of time.

The basic idea is that the more time passes, the more an animal ages and the more it progresses toward its ultimate demise.

This simplistic perspective is somewhat fatalistic and defines time as the ultimate enemy of youth.

However, it has been established in many animals that aging is also heavily influenced by genetic and physiological programs, such that aging may not necessarily be an inevitable consequence.

Dr Alejandro Sanchez Alvarado, Scientific Director, Stowers Institute for Medical Research, added: "Our work provides us with an opportunity to make inroads into understanding this fascinating natural manifestation of suspended animation in the vertebrate killifish."

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How a fish out of water could help humans find the fountain of youth - Telegraph.co.uk

Researchers have developed a new CRISPR technique, using a minigene, which was inserted into mouse DNA, resulting in improved liver disease symptoms.

In a proof-of-concept study, researchers have successfully used a new CRISPR gene-editing technique in mice to prevent a genetic liver disease known to be driven by hundreds of different mutations and improve clinical symptoms.

According to the scientists, from Penn Medicine, US, the findings suggest a promising CRISPR tool that could potentially treat patients with a rare metabolic urea-cycle disorder caused by a deficiency in the enzyme ornithine transcarbamylase (OTC), as well as other hereditary diseases triggered by different mutations on the same gene.

The CRISPR approach was developed from a previous one created at Penn Medicine which was limited to correcting only one mutation and benefitted new-born mice but not adults. This time, the technique, which employs a novel, dual adeno-associated virus (AAV) to deliver its components, inserted a minigene into the genome to accomplish a sustained expression of OTC in liver cells. No mutations are corrected; instead, a new set of instructions are added to the cells. As a result, researchers observed a clinical benefit in new-born mice that was maintained in adulthood.

Like most genetic diseases that present lethal effects in new-borns, early treatments that are effective for the long term are essential, said Dr James Wilson, a professor of Medicine, and director of the Gene Therapy Program and the Orphan Disease Center at Penn. Here, we moved a CRISPR approach forward to not only sustain expression of OTC in the cells but also broaden the tools abilities.

To develop a broadly applicable genome-editing tool, the team constructed a new, dual AAV vector containing an RNA-guided bacteria protein called Cas9. Known as AAV8, this Penn-developed vector specifically has an affinity for liver cells. The second AAV contained a fully functioning minigene expressing a codon-optimised human OTC, the donor DNA, driven by a liver-specific promoter to ensure it only expresses in liver cells when injected into the blood.

The first step the researchers took was to create a break in the DNA by Cas9 at the targeting site along the gene, which enables the addition of the minigene for homology directed repair (HDR).

Unlike other CRISPR approaches that delete or modify a portion of the normal gene, this technique integrates a new portion, said first author Dr Lili Wang, a research associate professor of Medicine. Were not trying to correct mutations that stop liver cells from producing OTC, were adding this new minigene so the cells can.

we moved a CRISPR approach forward to not only sustain expression of OTC in the cells but also broaden the tools abilities

Mice treated with the targeted vector showed 25 and 35 percent of OTC-expressing cells in the liver at three and eight weeks, respectively. This is four- and three-fold higher than the mice treated with the untargeted vector. At both three and eight weeks, most OTC-positive liver cells were located in clusters scattered throughout all portions of the liver in the targeted mice.

Researchers also observed a 60 percent reduction in ammonia levels in targeted mice compared to untreated mice fed on a high protein diet, a clinical sign that suggests the liver cells are producing OTC.

With these successful animal studies, weve moved closer to a potential broad spectrum gene-editing approach to treat patients with the OTC deficiency, irrespective of mutation and clinical state, Wilson said. The next step, through additional pre-clinical studies, is to find a safe harbour site on the gene in human liver cells and then to test a similar gene-editing approach.

The results were published in Science Advances.

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CRISPR 'minigene' used to prevent genetic liver disease in mice - Drug Target Review

An emergency room physician, initially unable to diagnose a disoriented patient, finds on the patient a wallet-sized card providing access to his genome, or all his DNA. The physician quickly searches the genome, diagnoses the problem and sends the patient off for a gene-therapy cure. Thats what a Pulitzer prize-winningjournalist imagined2020 would look like when she reported on the Human Genome Project back in 1996.

The Human Genome Project was an international scientific collaboration that successfully mapped, sequenced and made publicly available the genetic content of human chromosomes or all human DNA. Taking place between 1990 and 2003, the project caused many to speculate about the future of medicine. In 1996, Walter Gilbert, a Nobel laureate,said, The results of the Human Genome Project will produce a tremendous shift in the way we can do medicine and attack problems of human disease. In 2000, Francis Collins, then head of the HGP at the National Institutes of Health,predicted, Perhaps in another 15 or 20 years, you will see a complete transformation in therapeutic medicine. The same year, President Bill Clintonstatedthe Human Genome Project would revolutionize the diagnosis, prevention and treatment of most, if not all, human diseases.

It is now 2020 and no one carries a genome card. Physicians typically do not examine your DNA to diagnose or treat you. Why not? As I explain in a recentarticle in the Journal of Neurogenetics, the causes of common debilitating diseases are complex, so they typically are not amenable to simple genetic treatments, despite the hope and hype to the contrary.

The idea that a single gene can cause common diseases has been around for several decades. In the late 1980s and early 1990s, high-profile scientific journals, including Nature and JAMA, announced single-gene causation ofbipolar disorder,schizophreniaandalcoholism, among other conditions and behaviors. These articles drewmassive attentionin thepopular media, but weresoonretractedorfailedattemptsatreplication. These reevaluations completely undermined the initial conclusions, which often had relied onmisguided statistical tests. Biologists were generally aware of these developments, though the follow-up studies received little attention in popular media.

There are indeed individual gene mutations that cause devastating disorders, such asHuntingtons disease. But most common debilitating diseases are not caused by a mutation of a single gene. This is because people who have a debilitating genetic disease, on average, do not survive long enough to have numerous healthy children. In other words, there is strong evolutionary pressure against such mutations. Huntingtons disease is an exception that endures because it typically does not produce symptoms until a patient is beyond their reproductive years. Although new mutations for many other disabling conditions occur by chance, they dont become frequent in the population.

Instead, most common debilitating diseases are caused by combinations of mutations in many genes, each having a very small effect. They interact with one another and with environmental factors, modifying the production of proteins from genes. The many kinds of microbes that live within the human body can play a role, too.

A silver bullet genetic fix is still elusive for most diseases. (Credit: drpnncpptak/Shutterstock)

Since common serious diseases are rarely caused by single-gene mutations, they cannot be cured by replacing the mutated gene with a normal copy, the premise for gene therapy.Gene therapyhas gradually progressed in research along a very bumpy path, which has included accidentally causingleukemiaandat least one death, but doctors recently have been successful treatingsome rare diseasesin which a single-gene mutation has had a large effect. Gene therapy for rare single-gene disorders is likely to succeed, but must be tailored to each individual condition. The enormous cost and the relatively small number of patients who can be helped by such a treatment may create insurmountable financial barriers in these cases. For many diseases, gene therapy may never be useful.

The Human Genome Project has had an enormous impact on almost every field of biological research, by spurring technical advances that facilitate fast, precise and relatively inexpensive sequencing and manipulation of DNA. But these advances in research methods have not led to dramatic improvements in treatment of common debilitating diseases.

Although you cannot bring your genome card to your next doctors appointment, perhaps you can bring a more nuanced understanding of the relationship between genes and disease. A more accurate understanding of disease causation may insulate patients against unrealistic stories and false promises.

This article is republished from The Conversation under a Creative Commons license. Read the original article. This opinions expressed in this article belong solely to the author.

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We've Sequenced the Human Genome. So Why Haven't We Cured More Diseases? - Discover Magazine

Genetic testing market is projected to grow considerably in the coming years by P&S Intelligence. The global genetic testing market size is projected to grow considerably in the coming years.

The global genetic testing market size is projected to grow considerably in the coming years, due to the growing number of test to study multiple genes that may help in managing individual health condition. Additionally, the government initiatives to spread awareness with respect to the advantages of procedure is further expected to drive the growth of the market.

The different technologies used for genetic testing include cytogenetic testing, molecular testing, and biochemical testing. Molecular testing was the most widely utilized technology used for testing and analysis of genes, and held the largest share in the global market, in 2016.

This leading position of the category is mainly attributable to the increasing analysis on the biological markers in the genome and proteome studies.

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Increasing application of the gene testing in oncological research, rising incidences of genetic disorders, technological advancements and rising demand for personalized medicine are the major drivers augmenting the growth of the genetic testing industry.

According to the WHO, sickle cell anemia is one of the genetic disordersparticularly common among people whose ancestors come from Sub-Saharan Africa, South America, Cuba, Central America, Saudi Arabia, India, and Mediterranean countries such as Turkey, Greece, and Italy.However, high cost involves in gene testing, and lack of the experienced professionals are the key factors hampering the growth of the genetic testing market.

Genetic tests in conjugation with other genomic technologies would help predict the risk of an individual to a disease and is also expected to assist clinicians to select suitable therapeutic interventions.

These factors also increase the opportunities for players in pharmaceutical industry to grow, by providing treatment options to their end users. For instance, 23andMe offers direct genetic makeup tests to the consumers and based on the results of tests, the company recommends genetic counsellors to help the consumers about the better testing of genes, and the inherited diseases.

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Genetic Testing Market size, leaders, segment analysis and forecast to 2030 interpreted by a new report - WhaTech Technology and Markets News

Some of the prominent players operating in the precision medicine software market include 2bPrecise, Syapse, Inc., IBM Corporation

Precision medicine is a prototype in healthcare which provides the customization of healthcare with medical decisions, practices, treatments, and products for patients in person. It states about right therapeutic approach for the right patient at the right time. The use of precision medicine is to identify which treatment approach is effective for patients on the basis of genetic, environment, and lifestyle factors. Precision medicine software allows the healthcare professionals (HCPs) to provide personalized treatment plans to patients based on their genetic content. It gives a wide range of applications in both the clinical and diagnostic areas and it combines genetic and clinical data to cater targeted patient care, which is increasing the demand of precision medicine software market.

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The global precision medicine software market is experiencing lucrative growth owing to the increase in the number of patients suffering from chronic diseases such as cancer, heart diseases, and diabetes. For instance, as per the data presented by International Agency for Research on Cancer (IARC), in 2018, the cancer burden was 18.1 million new cases and 9.6 million deaths across the world. One in five men and one in six women around the globe develop cancer during their lifetime, and one in eight men and one in 11 women die from the disease.

Koninklijke Philips N.V. (Philips Healthcare), a multinational electronics company focusing on healthcare, offers precision medicine platform, namely, IntelliSpace. It enables end-to-end oncology care or cancer management. The platform unifies and streamlines oncology care throughout the patient journey from molecular diagnostics to therapy recommendations. IntelliSpace, a precision medicine oncology solution integrates information over different clinical domains such as pathology, electronic health record (EHR) systems, radiology, and genomics. It consolidates all key patient and medical data in one location to represent a clear, comprehensible view of patient status in its disease and enable data driven clinical decision support, which in turn is propelling the precision medicine software market.

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Precision medicine with the integration of artificial intelligence (AI) will go to the next level with more accuracy and prediction of outcome for patients. Its major benefit for precision medicine is that it predicts outcomes as well as enables healthcare professionals to predict patients probability of having diseases in the future, thus driving the demand of precision medicine software market. Oracle, an American multinational computer technology corporation offers precision medicine software that enables researchers, clinicians, and molecular pathologists to work together. The software addresses data aggregation, normalization and workflow issues, knowledge exchange which restricts timely creation of patient molecular profiles and it also enables spectrum testing from gene panels through whole genome sequencing, and integration with electronic health record systems for seamless clinical workflow.

The detailed research study provides qualitative and quantitative analysis of the global precision medicine software market. The precision medicine software market has been analyzed from demand as well as supply side. The demand side analysis covers market revenue across regions and further across all the major countries. The supply side analysis covers the major market players and their regional and global presence and strategies. The geographical analysis done emphasizes on each of the major countries across North America, Europe, Asia Pacific, Middle East & Africa and Latin America.

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Astonishing growth in Precision Medicine Software Market is expected to grow at CAGR 12.3% from 2019 to 2027 - Instant Tech News

By Ben Davies

Most people accept that patients have a strong claim (perhaps with some exceptions) to be told information that is relevant to their health and medical care. Patients have a Right to Know. More controversial is the claim that this control goes the other way, too. Some people claim, and others deny, that patients also have a Right Not to Know.

A number of considerations (harm to the patient; autonomy; privacy) have been marshalled on either side of this debate over the past few decades (e.g. Laurie 2004; Robertson and Savulescu 2001; Herring and Foster 2012; Takala 2019). In this post, I focus on a distinct argument and its apparently unassailable logic. This is the view that a comprehensive Right Not to Know cannot be justified because in many cases a patients ignorance will likely lead harm to third parties (Council of Europe 1997; Rhodes 1998; Harris and Keywood 2001).

The logic of this argument is best put by Rhodes, who focuses on our rights and obligations with respect to genetic knowledge (though the priniple applies more widely). As she presents it, the lack of a Right Not to Know follows from the logic of a right, since To have a right is to have a freedom to do or not do, while to have a duty is to have no moral freedom. If you have an obligation to acquire certain medical information about yourself (as you do if your ignorance would harm others), you thus lack the moral freedom not to acquire that information. And that is, in Rhodess thinking, logically equivalent to lacking a right not to have that information.

This argument, superficially persuasive though it might be, faces two problems. Firstly, it is not true that the philosophers understanding of rights and duties as Rhodes puts it is as she suggests. Although she acknowledges as much in a footnote, her central argument ignores a further category of rights that exist in the canonical analysis by Hohfeld (1919). As well as understanding rights as liberties (i.e. absences of duties), Hohfeld suggests that we can understand them in several other ways, including as claims. Briefly, if A holds a claim-right against B, that means that B has a duty to A to do or not do something nothing is said about As duties (Wenar 2015).

The second issue is that in introducing this distinction, we can locate rights at different levels. Assume it is true that in some situations, a patient has an obligation to learn as much as possible about his health because of the potential impact on others. In this case it is true that he has a duty and hence no freedom at what we might call the moral level. Yet we might think that even in such cases, it is important that patients retain strong institutional protections against medical professionals, including a control over access to information about themselves. This would be a claim that patients have against medical professionals, justified at the institutional level of health care.

There is no paradox here. A patient can have a claim against, say, his doctor that she not give him information even if he has a duty (held towards separate individuals, such as relatives) to seek out that information. The compatibility of these two claims, and thus the failure of the argument from a duty to others, is obscured by ambiguity in the phrase, a Right Not to Know.

References

Council of Europe. 1997. Convention for the protection of human rights and dignity of the human being with regard to the application of biology and medicine: Convention on human rights and biomedicine. European Treaty Series 164

J. Harris and K. Keywood. 2001. Ignorance, information and autonomy. Theoretical Medicine 22: 415-36.

J. Herring and C. Foster. 2012. Please dont tell me: The right not to know. Cambridge Quarterly of Healthcare Ethics 21: 20-29

W. Hohfeld. 1919.Fundamental Legal Conceptions, W. Cook (ed.). New Haven: Yale University Press.

G. Laurie. 2004. Recognizing the right not to know: Conceptual, professional, and legal implications. Journal of Law, Medicine and Ethics 42: 53-63.

R. Rhodes. 1998. Genetic links, family ties, and social bonds: Rights and responsibilities in the face of genetic knowledge. Journal of Medicine and Philosophy 23: 10-30.

S. Robertson and J. Savulescu. 2001. Is there a case in favour of predictive genetic testing in young children? Bioethics 15: 26-49

T. Takala. 2019. Genetic moralism and health. Cambridge Quarterly of Healthcare Ethics 28: 225-235

L. Wenar. Rights.The Stanford Encyclopedia of Philosophy

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The Right Not to Know and the Obligation to Know - Practical Ethics

Five members from the UBC Faculty of Medicine have been recognized with 2019 UBC faculty research awards for demonstrating excellence in research. Recipients include:

UBC Killam Research Fellowships

The fellowship enables faculty to pursue full-time research during a recognized study leave.

Nick Bansback, School of Population and Public Health

Dr. Bansback will be working on a digital health project based at the University of Manchester, UK where patients have been daily reporting their pain intensity in a large smartphone study. He will seek to help understand how this data can help patients make decisions about their daily activities using individualized predictions of future pain trajectories.

Miriam Spering, Department of Ophthalmology and Visual Sciences

Dr. Sperings research will focus on how people form memory representations since human memory is an important cognitive function that allows us to perceive, recognize, and keep track of objects and events around us. She will be using human eye movements as a window into sensory and cognitive processing with the ultimate aim to develop novel screening tools for sensory and cognitive dysfunction.

Lara Boyd, Department of Physical Therapy

Dr. Boyd will spend her study leave at the Florey Institute in Melbourne, Australia to gain advanced knowledge in the use of machine learning. This will enable her to apply algorithms to the datasets being generated in her lab in order to decipher new relationships among biomarkers and outcomes after stroke.

UBC Killam Research Prize

This research prize recognizes faculty for their outstanding research and scholarly contributions.

Andrew Krahn, Division of Cardiology, Department of Medicine

Dr. Krahn has published 416 papers in peer-reviewed journals such as Circulation, JAMA, Journal of the American College of Cardiology, the New England Journal of Medicine, and the European Heart Journal. His current research interests include investigation of genetic causes of arrhythmias, sudden cardiac arrest, syncope, and implantable arrhythmia devices. He has research funded by the Canadian Institute of Health Research through to 2027.

Presidents Award for Public Education Through Media

This award recognizes a faculty member who has demonstrated outstanding service to the University and the community by sharing research expertise via the news media.

Lori Brotto, Department of Obstetrics & Gynaecology

Dr. Brotto is a world-leading expert on sexual desire and arousal disorder. She has worked with Canadian and international news media to disseminate sexual health research and clinical advice.

Her achievements in actively and creatively sharing her research expertise through the media are exceptional examples of knowledge translation. Dr. Brottos media engagements include national network documentaries (Discovery Channels The Science of Lust and the CBCs The Truth About Female Desire), The New York Times Magazine, Women Who Want to Want, and as a guest columnist for the Globe and Mails health Advisor column.

Dr. Brottos engagement with the media has helped to break down the taboos surrounding female sexuality through the sharing of her own and others scholarly research and clinical experience. She has immensely contributed to public awareness of an important, yet neglected, topic. Her knowledge translation, extending far beyond individuals in her clinical practice, has helped untold numbers of women and their partners discover fulfillment in their relationships and inner lives.

Recipients were selected by UBCs Faculty Research Awards Committee, which includes arts and humanities, business, applied science, science, and medicine.

Each spring, the Office of the Vice-President Research & Innovation hosts an awards reception to recognize outstanding UBC researchers. This year the reception will be held on April 15, 2020 at the Jack Poole Hall of the Robert H. Lee Alumni Centre.

For a list of all Faculty Research Award recipients, visit UBC Research + Innovation.

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Five faculty members recognized with UBC Faculty Research Awards - UBC Faculty of Medicine - UBC Faculty of Medicine

Imagine ten jigsaw puzzles, each with 150 million pieces, jumbled together in a huge box.

The jigsaws are all double-sided, with a different picture on each side. The images on them are bland and one in 100 pieces has the wrong picture.

Despite all of this, you have just two days to complete the puzzles.

Tricky enough for you?

This is essentially what scientists face figuratively speaking each time they sequence a human genome. When they do solve the puzzle, just four of the pieces hold the key information they need.

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It is an incredibly difficult and precise science, but mapping the human genome is revolutionising medicine, and researchers hope that it will help them to turn cancer into a manageable chronic disease like diabetes.

Until relatively recently, this sort of thing was a pipe dream.

The game changed significantly, however, when scientists announced that they had mapped the human genome in 2003. Since then, many others around the world have explored ways to use this ground-breaking information.

The potential for using an individuals genetic information to personalise their medical treatment is enormous. But what exactly is the human genome and how do you sequence it?

The genome is an organisms entire chemical blueprint. It is held as DNA in all cells with a nucleus and scientists are increasingly focusing on sequencing, or reading, genomes to understand the genetic functioning and causes of disease.

The human genome contains about three billion base chemical pairs, making it extremely difficult to read accurately. But that hasnt stopped University of Melbourne researchers from using the technology to help cancer patients and those at risk of developing it.

The information is already being used to better understand why a person is at risk or to pinpoint how each patient should be treated. Well-targeted treatments increase the chances of success and reduce the chances of failure and/or debilitating side effects.

Professor Sean Grimmond, the Bertalli Chair in Cancer Medicine at the University of Melbournes Centre for Cancer Research (UMCCR), is focusing on rare and challenging cancers, such as pancreatic cancer.

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People with pancreatic cancer have a five-year survival rate of less than 10 per cent.

The UMCCR is focusing on cancers of unmet need. These are the most challenging to treat cases, including rare or aggressive tumours, those resistant to standard therapies, or those that are traditionally difficult to diagnose.

When Professor Grimmonds team sequenced the genome of its first Australian cancer patient nine years ago, it took more than six months and cost about $A1 million.

Using new NovaSeq 6000 machines and the latest computer technology, it now costs the same as an MRI scan.

The science is cutting edge, but if youre picturing space-age shiny metals, rows of glowing buttons or laser lights then think again.

The Illumina NovaSeq machines that could save many lives resemble large, sleek photocopiers, with cartridges of reagents instead of ink to facilitate the sequencing process.

They live in the Victorian Comprehensive Cancer Centre, a building bringing together those at the forefront of world cancer research and treatment. Operated by the UMCCR, each machine has the capacity to sequence 50 human genomes in less than two days.

So, how do they do it?

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Sequencing a cancer patients genome essentially produces a genetic blueprint of their tumour. Initially, scientists take a tiny sample of the cancer, extract the DNA and process it before compressing it onto a slide.

The slide is fed into the sequencing machine, which produces terabytes of data that can only be decoded in pieces that are up to 150 bits long.

Scientists take those pieces and smash them into random bits to create a complex map that can be decoded. Hence, the jigsaw analogy.

Before you start, you draw lines between the pieces and come back to use those clues, Professor Grimmond explains. Its computationally very difficult. We can think of those bits as a computer hard drive your DNA is like a three-gig hard drive.

As well as mapping individual genomes, Professor Grimmond wants to build up enough combined data to establish patterns that will further advance treatment. Drug trials could also be personalised by pinpointing which trial drug a patient is better suited to.

Over the next three years, more than 1,000 Victorians with rare and challenging cancers are set to benefit from genomic testing through an initiative led by Professor Grimmond.

The Cancer of Unmet Need Initiative is piloting real-time testing of our most challenging cancer cases, integrating patients genomic data into routine clinical decision-making for a truly personalised approach to treatment and care, Professor Grimmond says.

The $A6 million initiative is the first flagship project of a partnership announced in 2019 by University of Melbourne and Illumina, one of the worlds leading biotech companies.

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While the overall outlook for people with cancer has almost doubled in recent decades, this initiative is targets those classes of cancers that have not seen these improved outcomes.

Its providing these patients with rapid diagnositics and a gateway to better cancer care and targeted clinical trials.

Professor Grimmond and his team are already sequencing patients as part of the Victorian Comprehensive Cancer Centres (VCCC) Precision Oncology program.

The ultimate goal is for precision oncology to turn cancer into a manageable chronic disease, as well as minimising treatment failure and side effects.

For example, if a drug has an 80 per cent success rate but sequencing suggested you were one of the 20 per cent of patients that it would not work on, your doctor could direct you to another more suitable treatment.

We want to take the guesswork out of therapy, Professor Grimmond says.

Ultimately, we want to help those at the forgotten fringes of cancer care on an individual level, to improve equity of patient outcomes.

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The McKusick-Nathans Institute of Genetic Medicine (IGM) seeks to further the understanding of human heredity and genetic medicine and use that knowledge to treat and prevent disease.

The IGM is working to consolidate all relevant teaching, patient care and research in human and medical genetics at Johns Hopkins to provide national and international leadership in genetic medicine. The IGM serves as a focal point for interactions between diverse investigators to promote the application of genetic discoveries to human disease and genetics education to the public. It builds upon past strengths and further develops expertise in the areas of genomics, developmental genetics and complex disease genetics. The IGM works to catalyze the spread of human genetic perspectives to other related disciplines by collaboration with other departments within Johns Hopkins.

There are more than 300 dedicated employees in the IGM, fulfilling the Johns Hopkins tripartite mission of research, teaching and patient care. They include 45 full-time faculty, 15 residents, more than 70 graduate students and 200 staff.

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Newswise (Indianapolis, IN) Nearly half of all U.S. adults have some type of cardiovascular disease. Its a heartbreaking statistic literally and figuratively. People often believe their risk for heart disease cannot be reduced if they have a genetic predisposition. In honor of American Heart Month, the American College of Sports Medicine (ACSM) and ACSM Fellow Beth A. Taylor, Ph.D., have teamed up to shatter this heart myth.

The truth about the heritability (or genetic component) of heart disease is a glass far more full than empty, as long as we look at it accurately, says Dr. Taylor, associate professor of kinesiology at the University of Connecticut and the director of exercise physiology research at Hartford Hospital.

Genetics do play a significant role in increasing heart disease risk. Research shows that individuals at high genetic risk have a 91% higher chance of experiencing a cardiac event, yet that risk can be cut nearly in half by adopting healthy lifestyles.

We may have genes that predispose us to cardiovascular disease, but when, how and to what extent those genes express themselves is highly influenced by lifestyle, says Dr. Taylor. Being more physically active, aiming for a healthy weight, eating a heart healthy diet and avoiding smoking can improve heart health and reduce the risk of coronary events by 46% for high genetic risk individuals.

The outlook looks even better when considering being healthy across the lifespan rather than at a single age. The Framingham Heart Study, a project of Boston University and the National Heart, Lung and Blood Institute (NHLBI), has sought to identify common factors contributing to cardiovascular disease (CVD) by following CVD development in three generations of participants.

Dr. Taylor adds, When those three generations of the Framingham Heart Study were reviewed, investigators concluded that the heritability of ideal cardiovascular health was only 13-18%, with health behaviors and lifestyle factors being much more influential.

She says other studies have found that adhering to just four out of five of healthy lifestyle factors (e.g., avoiding smoking and excessive alcohol intake, performing 30 or more minutes a day of moderate-to-vigorous physical activity, eating a heart healthy diet) increased the likelihood of living free of cardiovascular disease, as well as cancer and Type 2 diabetes, by more than 10 years in women and seven years in men.

For Dr. Taylor, the take-home message is simple. You cant completely cure a broken heart; however, you can make it better or worse based on your lifestyle. The choice is yours!

Find more heart health resources from ACSM at https://www.acsm.org/read-research/trending-topics-resource-pages/heart-health-resources.

# # #

About the American College of Sports Medicine

The American College of Sports Medicine is the largest sports medicine and exercise science organization in the world. More than 50,000 international, national and regional members and certified professionals are dedicated to advancing and integrating scientific research to provide educational and practical applications of exercise science and sports medicine. More details at acsm.org.

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ACSM Tackles Myth on Genetics and Heart Disease as Part of American Heart Month - Newswise

- Salvador Rico, M.D., Ph.D., named Chief Medical Officer

- Martin Moorhead, Ph.D., promoted to Chief Technology Officer

SOUTH SAN FRANCISCO, Calif., Feb. 11, 2020 /PRNewswire/ --Encoded Therapeutics, Inc.(Encoded), a precision gene therapy company,today announced the appointment of Salvador Rico, M.D., Ph.D., as chief medical officer and the promotion of Martin Moorhead, Ph.D., to chief technology officer. Dr. Rico joins Encoded from Audentes Therapeutics, where he led clinical development of the company's pipeline of gene therapies for neuromuscular disorders. In his three years at Encoded, Dr. Moorhead has guided the development of the company's technology platform for creating innovative AAV-based gene therapies. He previously led the development of clonoSEQ, the FDA-approved next-generation sequencing assay for detecting minimal residual disease in lymphoid malignancies, at Adaptive Biotechnologies.

Encoded Therapeutics, Inc. Logo (PRNewsfoto/Encoded Therapeutics, Inc.)

"Sal is an accomplished physician-scientist with deep experience advancing novel therapeutics through clinical development, and Martin is a strong leader who brings a genomics mindset to all aspects of gene therapy development," said Encoded co-founder and chief executive officer Kartik Ramamoorthi, Ph.D."With these appointments, we now have some of the most qualified gene therapy experts in the industry with a proven track record of delivering for patients in need. Their collective experience includes bringing multiple AAV-based gene therapies through clinical development, FDA filings, and approval. I am more confident than ever that our novel gene therapies can make a major impact on patients suffering from debilitating diseases, starting with Dravet Syndrome."

At Encoded, Dr. Rico will lead medical strategy and clinical development of ETX101, which is being developed for patients with SCN1A+ Dravet Syndrome. Dr. Moorhead will lead the technical team that enables Encoded's innovative research platform.

"I am delighted to join an organization that is so committed to transforming patients' lives with the development of next-generation gene therapies," said Dr. Rico. "I look forward to working closely with both the team at Encoded, and with the Dravet Syndrome community, to advance ETX101 through clinical development and ultimately, deliver it to patients in need."

"In building a technology platform that combines the power of genomics and computation with AAV-based gene therapy, Encoded is forging the path for the next generation of precision genetic medicines," said Dr. Moorhead. "I am very proud of what we have accomplished to date and am thrilled at the opportunity to help advance multiple programs for diseases where no treatment options currently exist."

New Leadership Team Appointments

About Encoded

Encoded Therapeutics, Inc., is a biotechnology company developing precision gene therapies for a broad range of severe genetic disorders. Our mission is to realize the potential of genomics-driven precision medicine by overcoming key limitations of viral gene therapy. We focus on delivering life-changing advances that move away from disease management and towards lasting disease modification. We are advancing our lead asset, ETX101, for the treatment of SCN1A-positiveDravet Syndrome. For more information, please visitwww.Encoded.com.

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Sarah SuttonGlover Park Groupssutton@gpg.com 202-337-0808

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Encoded Therapeutics Expands Gene Therapy Leadership with Key Appointment and Promotion - Yahoo Finance

The lottery that began this week was not about money, or about choosing a school, or about obtaining a visa. It was about a childs life.

In this case, the children selected would receive a drug that otherwise was not available. Jamie Clarkson, an electrician in Queensland, Australia, entered his 18-month-old daughter, Wynter.

We applied for it because we desperately want this drug for our daughter, but youre putting your daughters well-being and longevity in the hands of a lottery, Clarkson said. I guess its the fairest way to decide who gets the drug and who doesnt, but yeah, its not a great feeling.

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The treatment, a gene therapy called Zolgensma, is designed for children like Wynter who have a neuromuscular disease called spinal muscular atrophy, or SMA. Without it or other treatments, those with the most serious type are likely to die as babies. It was first approved by U.S. regulators only last year, and is not yet available in other countries.

The lottery was devised by the drugs manufacturer, Novartis, to give families in those places a chance to get it through a novel form of compassionate use a way to get medications that have not been approved while they wait. Fifty doses are slotted to be given away for free in the first half of the year, with up to 100 total.

The first drawing occurred Monday.

Ethicists and advocates have debated the merits and the design of the unusual arrangement. Parents said that it was uncomfortable to cast their childs fate into what felt like a sweepstakes a kind of bizarre Willy Wonka contest in which, as Maura Blair, a Canadian mother of a child with SMA put it, were talking about lives. But if it was a chance to get the drug, it was worth trying.

Zolgensma costs $2.1 million in the United States the worlds most expensive drug. And even if it is to cost less in other countries, even if it is to be covered by insurance, infants at this point are not eligible for it after turning 2. Some families have even tried to fundraise in hopes of buying the drug themselves and getting it injected by doctors in the United States.

Shes 7 months, Laura Silva, who lives north of Toronto, said about her daughter, Rebecca. Do we rely on their word and wait it out? Or do we take action ourselves? Because the sooner she can get it, the better for her.

Some parents said they had taken issue with news coverage of the lottery, which has framed the eventual recipients of the drugs as lucky winners. If that were the case, what did that say about everyone else?

The kids appeared healthy at birth. But soon, their parents recalled, it became clear that something was wrong. They couldnt raise or control their arms and legs. They would choke on their milk.

Jamie Clarkson, in Australia, said he and his wife, Kellee, had a friend with a daughter around Wynters age. When laid face down (tummy time, in parental parlance), the girl had no problem lifting her head.

The difference was chalk and cheese, he said. Our girl sort of laid there and didnt do anything.

Sometimes the parents were told their kids just needed more time, but eventually, a clinical evaluation and genetic test would confirm the SMA diagnosis. The most serious form, called type 1, is estimated to affect 1 in 15,000 babies.

Children with the disease have a mutation in a gene called SMN1 (or a missing gene) that meant cells dont produce sufficient SMN protein. The dearth of the protein debilitates motor neurons, which are responsible for relaying messages to muscles, and creates a cascade of issues that culminates in muscle weakness.

Without treatment, babies with type 1 SMA might never be able to lift their heads or arms or legs, and struggle to regulate their swallowing and breathing. Most die by 2, typically because of respiratory issues.

Zolgensma works by ferrying a healthy copy of an SMN gene into motor neurons restoring production of the protein and the health of the neurons. It is a one-time treatment with lasting benefits like reigniting a pilot light.

When Zolgensma won approval from the U.S. Food and Drug Administration in May, it was hailed a monumental victory for families and an achievement in genetic medicine one of the first gene therapies to make it to the market. But it also created a divide between haves and have-nots American parents, assuming insurance companies would cover the treatment, and parents anywhere else in the world.

It is not uncommon for a drug to be available in the United States before other countries; drug makers routinely apply for and receive regulatory clearance from agencies around the world at different times. But the FDAs approval drove global appeals for a drug that offered babies a chance.

Beyond the issue of regulatory approval, supplies of Zolgensma are tight, Novartis has said. Gene therapies are complex to manufacture, and the company only has one facility producing the drug right now, with plans for two more to come online this year. It also needs to have doses available for U.S. patients and for patients in other countries where the drug could become available in the coming months. (European regulators are expected to decide on Zolgensma this quarter, and Japanese officials before the middle of the year, the company has said. Decisions in Canada and Australia may not come until 2021.)

Novartis saw a lottery as the answer.

Random lotteries are an accepted way to mete out resources when there is a limited amount, some ethicists have argued. They establish an equal playing field and remove the possibility that those with money or connections can maneuver to jump the line.

But experts have also questioned whether Novartis has done enough to try to overcome the scarcity issues. Some have also said that favoring those with the greatest need meaning the sickest children would be a more ethical approach; patients who are healthier could potentially wait until the drug is approved in their home countries or until more supply is available.

If it is really not possible to help all who are in need of help, then a lottery with priority to patients who are worst off is not a bad approach and definitely fairer than other things a company could do, said Holly Fernandez Lynch, a bioethicist at University of Pennsylvanias Perelman School of Medicine. The key is to first do everything possible to minimize the need for a lottery at all and its not obvious to me that Novartis has done that here.

The fact that the lottery created a situation in which there are, for lack of better descriptors, winners and losers also left some people uneasy.

You cant do anything to improve your chances, said Genevieve Kanter, also a bioethicist at Penn. But it does become a zero-sum game, which is what bothers some people about the mechanism, even if at the end of the day, more kids get treated than in the alternate scenario where theres no lottery.

Its the price we have to pay to have some kids treated.

In an interview with STAT, the president of AveXis, the Novartis unit that developed Zolgensma, said the company considered prioritizing the patients who were sickest or those for whom another SMA treatment did not help. But the company, which is using an outside party to handle the selection and brought in ethicists to consult on the system, did not want to put a finger on the scale in any way, he said. Instead, selections would be random.

Its the only fair way to allocate, the official, Dave Lennon, said, even as he acknowledged, its not an ideal situation.

The alternative is not do anything, which we didnt feel like was a good option, he added.

He said if the supply was sufficient, Novartis hoped to expand the program.

Novartis would not say how many people were being selected each time. Drawings are set to take place every two weeks.

And that means families in desperate need have a chance to obtain the medicine just as often.

For them, they try every possible way to get this Zolgensma, said Csilla Galik, a friend of the family of Noel lys, who has type 1 SMA and whose family lives in Romania near the Hungarian border. They need to try every possibility because this medicines price is incredible.

Beyond Zolgensma, there is another treatment for SMA: Spinraza, manufactured by the drug maker Biogen and more widely available globally. Injected into the spinal fluid every few weeks and then every four months, it promotes the production of the SMN protein by boosting the activity of another gene similar to SMN1.

Many of the children waiting for Zolgensma are already receiving Spinraza, and their parents say it appears to be helping, to an extent.

Wynter Clarksons motor function has improved, though not as much as her parents had hoped it would. She can move her head and raise her arms, and can sit up with a back brace. She can rock from side to side, but not quite roll over. Each treatment requires the family to travel about two and a half hours from their home in Toowoomba to Brisbane.

Spinraza and Zolgensma have not been compared in a head-to-head study, and how long the benefits of Zolgensma last is not yet known. But parents said they see a one-time infusion of Zolgensma which replaces the faulty gene at the root of the disease, instead of just building a workaround as the best option for their children.

Even when children are on Spinraza, their disease can progress, if at a slower rate, parents said.

Blair said her daughter, Lennon, has more control over her head and limbs since starting Spinraza. But after three doses, the girl still needed a feeding tube inserted; she lost her ability to swallow. Thats on top of other care required by Blair and other parents of infants with the disease. Oxygen levels needed to be checked, sleeping sometimes requires a mask and machines to aid breathing, physical therapy exercises are done to try to coax some muscle activity.

You basically repeat that all day, all day until bed time, said Blair, of St. Catharines, Ontario. And everything takes so long.

There is another wrinkle to having a child with the disease: Its inherited, and some parents though not all said they felt responsible for having passed on a mutation that made their child so sick.

To have the disease, a child needs to inherit two mutated copies of the gene, one from each parent who can go through life not knowing they are carrying the mutation until they have a child with the disease.

The parents who have struggled with a sense of guilt know they shouldnt blame themselves, but they still catch themselves wondering if there was something they could have done differently.

Its something we technically gave to her, not even knowing that we could, said Laura Silva, the mother who lives near Toronto. And thats the hardest part.

When it came time for the lottery drawing this week, her daughter Rebeccas name wasnt in the pool she hadnt yet gotten the necessary approval from a Candian health authority to try an experimental drug. Its not clear how many Canadian children found themselves in similar circumstances, or how many were successfully entered by their doctors. Some parents said they were still waiting for that approval.

Noel, the boy in Romania, was entered by his doctor. But his family had not heard anything following the initial drawing. Neither had the Clarksons in Australia:

No word from our neurologist about the free Zolgensma dose, Jamie wrote in an email Tuesday, so Im assuming Wynter wasnt picked this time around, unfortunately.

Winnie Luk-Taylor and Cory Taylor, who live outside Toronto, were once hopeful that Zolgensma could help their daughter, Skye.

She was born in June. Her motor skills werent developing as they should have, and her breath had a rattle to it, as if she were congested. At around 4 months, Skye was diagnosed with SMA and, with a cough, her parents were told to take her to the hospital. She was also started on Spinraza.

She spent a month and a half at the hospital with respiratory infections and complications. She died Dec. 21.

Skye took it all in and smiled at every one and didnt seem to realize she was experiencing some very, I guess, major medical procedures, her mom said. She was a very good-natured girl.

Luk-Taylor said she sometimes wondered what might have happened if Skye had been born one year later June 24, 2020, not 2019. Ontario, the province where they live, started testing for SMA this year as part of its newborn screening, meaning Skye might have been diagnosed earlier in her life and started on Spinraza sooner. Maybe it could have had more of an effect. And maybe Zolgensma would have become available to Canadian babies not long after that.

Instead, at Christmas, Luk-Taylor wrote her daughter a poem.

We will never let you go, it reads in part.

Your spirit will live onIt lives in everything I doI will always fight for youI will always care for youI will always dream of youI got to see who you were to becomeAnd I am blessed and proud of youI am blessed and proud of youI hope you see and hear me nowAnd know that I love you.

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Lottery like no other offers a cutting-edge medicine with lives on the line - STAT