Category Archives: Genetic medicine

Waldron has already lived considerably longer she turns 19 on March 1. She credits lonafarnib, an experimental medication shes taken since 2007 in clinical trials at Boston Childrens Hospital. A California drug firm plans to complete its application for approval by March 31, with the hope of a favorable ruling from the Food and Drug Administration by years end. It would be the first approved drug for the ultra-rare disease.

Its been proven that it helps in extending life, Waldron, a Deerfield native, said recently over hot chocolate at Caffe Nero near Emerson. Im almost 19. The life span is technically 14. A winsome smile brightened her face. Looks like its doing a good job.

Since 2007, Childrens Hospital has run four clinical trial of lonafarnib. Waldron has participated in all four, and researchers say the results are encouraging.

In perhaps the most compelling finding, a study published by the Journal of the American Medical Association in 2018 reported that children with progeria who took lonafarnib capsules twice a day had a dramatically lower mortality rate than those who didnt.

After slightly more than two years, one in 27 children who took lonafarnib, or 3.7 percent, had died compared with nine in 27 who didnt get it, or 33 percent, according to the article by a team of researchers from the Progeria Research Foundation, Brown University, and Childrens Hospital. Lonafarnib appeared to slow the progression of cardiovascular disease, although it had little or no effect on other symptoms, including stiff joints, stunted growth, wrinkled skin, and loss of body fat and hair.

The data looks fantastic, said Dr. Leslie Gordon, lead author of the JAMA study and medical director and cofounder of the Progeria Research Foundation, the Peabody-based nonprofit that funded the trials. Youve got a fatal childhood disease with no treatment, and youve shown a survival benefit.

For Gordon, a professor of pediatric medicine at Browns medical school who practices at Boston Childrens Hospital and Hasbro Childrens Hospital in Providence, the quest to treat progeria is profoundly personal.

Her son, Sam Berns, a Foxborough High School junior, died of progeria in 2014 at age 17. Like Waldron, he began taking lonafarnib in 2007 in the clinical trials. An avid sports fan who played the snare drum in the Foxborough High School marching band, he was the subject of the 2013 HBO documentary Life According to Sam.

Gordon had never heard of progeria when Sam, her only child, was diagnosed with it at 22 months. She has since become an authority. In 2003, she was on the research team led by Dr. Francis S. Collins, director of the National Institutes of Health, that discovered the defective gene that causes the disease. She cofounded the progeria foundation with her husband and sister.

The genetic mutation that causes progeria results in an overabundance of the protein progerin. A buildup of progerin occurs within a cell in normal aging, but the rate of accumulation is dramatically accelerated in children with the disease. Progeria has no effect on a childs intellect, as anyone who meets Waldron who took an Advanced Placement class in European history in high school and rhapsodizes about Michelangelo can tell in an instant.

Lonafarnib was originally developed by the pharmaceutical giant Merck as a potential treatment for cancer. But researchers found that it can reverse an abnormality in cells of laboratory mice with progeria. Merck has licensed it to Eiger BioPharmaceuticals, a small drug maker in Palo Alto, Calif. David Cory, chief executive of Eiger, says the company has hired a chief commercial officer and a vice president of medical affair in anticipation of FDA approval.

Researchers are working on other potential treatments, including one that targets the genetic root of the disease. David Liu, a chemistry professor affiliated with the Broad Institute, Harvard University, and the Howard Hughes Medical Institute, recently announced that he and a team of scientists had used a new form of genome editing to correct the DNA mutation that caused the disorder in mice, extending their lives.

Waldron, who serves as an ambassador for the progeria foundation, said she was diagnosed with the disease when she was about 2. Her mother, a housekeeper at an assisted living facility, and her father, a solar energy contractor, were worried because she wasnt growing or gaining weight, and her hair was falling out.

Waldron realized she had progeria as an adolescent when she went on the foundations website and saw pictures of kids who looked like her, she said.

Obviously, I knew that I was different before that, she said. But it wasnt an awareness I-have-progeria thing until at a certain point.

The disease has hardly stopped her. She ran for the cross-country and track teams at the public Frontier Regional High School in Deerfield. She played violin in the middle school orchestra and cello in the high school orchestra.

She has met about a dozen other children with progeria from around the country at family weekends at the nonprofit Hole in the Wall Gang Camp in Connecticut for seriously ill children and their families.

When she started considering colleges, Waldron said, she had no interest in going to school in Boston. But she fell in love with the city on a visit to Emerson.

You can walk down the street or hop on a train and go anywhere, she said, citing the North End as one of her favorites places.

I have great friends," she added. "I always have.

Emerson has made several accommodations for her. For example, the college provides a stool for her to rest her feet on when she sits at a desk in her four classes. The handle on her wardrobe in her dorm room was lowered so she could reach it more easily.

Waldron says she generally feels fine despite problems with her joints. She has dislocated her right shoulder four times doing ordinary tasks, such as reaching for a light switch.

None of this has dimmed her spirit for adventure.

Meghan has a very strong personality. Shes driven, her father, Bill Waldron, said in a video posted last year on the progeria foundations Facebook page. I dont think she pays attention to the fact that she has progeria.

Indeed, after graduating from high school in June, she traveled in Europe alone for a month. The initial attraction was seeing Anne-Marie, a singer and occasional Ed Sheeran collaborator, perform in London. But Waldron decided she also wanted to experience Renaissance art. She visited Milan, Florence, Rome, Paris, and Dublin, staying in youth hostels along the way.

Waldrons parents were nervous, she said. She was, too, but only briefly.

There was a point of about five minutes when my parents said goodbye and I was getting on the plane where I started freaking out, she said, laughing. But then I was like, Oh, well. And then I was fine.

Jonathan Saltzman can be reached at jonathan.saltzman@globe.com

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Emerson student with one of the worlds rarest diseases is heartened that the first drug to treat it could be approved soon - The Boston Globe

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

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

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

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

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

Advances in molecular biology and human genetics, coupled with the completion of the Human Genome Project and the increasing power of quantitative genetics to identify disease susceptibility genes, are contributing to a revolution in the practice of medicine. In the 21st century, practicing physicians will focus more on defining genetically determined disease susceptibility in individual patients. This strategy will be used to prevent, modify, and treat a wide array of common disorders that have unique heritable risk factors such as hypertension, obesity, diabetes, arthrosclerosis, and cancer.

The Division of Genetic Medicine provides an academic environment enabling researchers to explore new relationships between disease susceptibility and human genetics. The Division of Genetic Medicine was established to host both research and clinical research programs focused on the genetic basis of health and disease. Equipped with state-of-the-art research tools and facilities, our faculty members are advancing knowledge of the common genetic determinants of cancer, congenital neuropathies, and heart disease. The Division faculty work jointly with the Vanderbilt-Ingram Cancer Center to support the Hereditary Cancer Clinic for treating patients and families who have an inherited predisposition to various malignancies.

Genetic differences in humans at the molecular level not only contribute to the disease process but also significantly impact an individuals ability to respond optimally to drug therapy. Vanderbilt is a pioneer in precisely identifying genetic differences between patients and making rational treatment decisions at the bedside.

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Genetic Medicine | Department of Medicine

Governor Andrew M. Cuomo today announced a 30-day amendment to the FY 2021 Executive Budget which will include legislation to establish the SUNY Curing Alzheimer's Health Consortium within the State University of New York. The Consortium will work to identify genes that predict an increased risk for developing Alzheimer's and collaborate with public and private research institutions on projects and studies to identify opportunities to develop new therapeutic treatment and cures for Alzheimer's. The goal of the Consortium will be to map the genetics of 1 million people, suffering from or at-risk of developing Alzheimer's Disease, over 5 years. This new wealth of data will support researchers as they work towards developing newtreatments and cures for the disease.

"Alzheimer's Disease affects hundreds of thousands of New Yorkers each year and takes a devastating toll on both patients and caregivers who lack access to sufficient treatment options due to an insufficient body of research"Governor Cuomo said."Genomics have made significant progress in the diagnosis and treatment of diseases ranging from cancer to cardiovascular disease, and could present major breakthroughs in the fight against Alzheimer's Disease. The Curing Alzheimer's Health Consortium will collect genomic data on a statewide scale and support genetic researchers as they work to slow the deadly progress of this disease."

SUNY will issue a request for proposals in partnership with Empire State Development's Life Sciences Initiative for private providers to partner with the SUNY system and other not-for-profit and private hospitals, and non-profit higher education research institutions to map the genomes of individuals suffering from or at risk of Alzheimer's.The ESD Life Science Initiative will provide $20M in existing funding to the Consortium to identify and recruit 200,000 people for genetic testing as part of phase one of the initiative.

Entities awarded the RFP will partner with SUNY's systems, including SUNYUpstate Medical, SUNY Downstate Medical, Renaissance School of Medicine at Stony Brook University,Jacobs School of Medicine and Biomedical Sciences at University at Buffalo, as well asother medical centers and hospitals,to launch an initial phase of their partnership that will map 1 million people suffering from, or at risk of, Alzheimer's over 5 years.Upon completion of the mapping, the resulting database will be made freely available to advance research on Alzheimer's Disease.

Alzheimer's in New York

According to the Department of Health, in 2017 an estimated 390,000 individuals in New York State suffered from Alzheimer's Disease, a figure that is expected to increase to 460,000 by 2025. Despite its prevalence, there remains a concerning lack of research and available treatment options to address Alzheimer's, which contributes to staggering disability and disease burden for patients, their families and society, and billions in economic costs annually to the State

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Governor Cuomo Announces 30-Day Amendment to FY 2021 Executive Budget to Establish SUNY Curing Alzheimer's Health Consortium - ny.gov

PMC President: Report reminds us that personalized medicine offers new hope to patients, opportunities to avoid unsafe or ineffective treatment plans

WASHINGTON, Feb. 21, 2020 /PRNewswire/ --In a report released this morning, the Personalized Medicine Coalition (PMC) explains how 12 personalized treatments and seven diagnostics the U.S. Food and Drug Administration (FDA) approved or cleared in 2019 will improve patient care and make the health system more efficient by addressing root causes of rare diseases, expanding treatment options for cancer patients, and targeting therapies to responder populations. The approvals and clearance decisions expand the frontiers of the rapidly evolving field of personalized medicine for the benefit of patients and health systems.

Personalized Medicine at FDA: The Scope & Significance of Progress in 2019defines personalized medicine as a field "in which physicians use diagnostic tests to determine which medical treatments will work best for each patient or use medical interventions to alter molecular mechanisms, often genetic, that cause disease or influence a patient's response to certain treatments." The report classifies 11 new therapeutic molecular entities and one gene therapy as personalized treatments. Five of those treatments are the first to address root causes of devastating rare diseases. Four others provide new options for cancer patients, and two include FDA labeling that will help patients avoid debilitating and costly adverse side effects. The report also explains how seven newly cleared or approved diagnostics will help make the health care system more efficient by targeting treatments to only those patients who will benefit from them, sparing expenses and side effects for those who will not.

"Personalized Medicine at FDA: The Scope & Significance of Progress in 2019 reminds us that personalized medicine offers new hope to patients with devastating diseases as well as opportunities to avoid prescribing therapies that will be unsafe or ineffective for certain populations of patients," said Edward Abrahams, President, PMC.

In classifying 11 of the 44 (25 percent) new therapeutic molecular entities FDA approved last year as personalized medicines, this year's report marks the sixth straight year that personalized medicines have accounted for more than 20 percent of the agency's new drug approvals. These approvals have increased sharply since 2005, when personalized medicines accounted for just 5 percent of newly approved therapies.

About the Personalized Medicine Coalition:The Personalized Medicine Coalition (PMC), representing innovators, scientists, patients, providers and payers, promotes the understanding and adoption of personalized medicine concepts, services and products to benefit patients and the health system. For more information about PMC, visit http://www.personalizedmedicinecoalition.org.

PRESS CONTACT

Christopher J. Wells Vice President, Public Affairs Personalized Medicine Coalition cwells@personalizedmedicinecoalition.org (202) 589-1755

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Recipients of INF awards, from left, areSumeet Banker, Jennifer Woo-Baidal, Andrew Geneslaw, Julia Wynn, and Rebecca Hough. Not pictured: Michael DiLorenzo. (Photo: Charles Manley)

Six Columbia pediatrics researchers were awarded start-up funding from the Department of Pediatrics through a new Innovation Nucleation Fund. The recipients, announced during a department faculty meeting on Feb. 13, areSumeet Banker, MD, MPH,Michael DiLorenzo, MD, Julia Wynn, MS,Rebecca Hough, MD, PhD,Jennifer Woo-Baidal, MD, MPH, andAndrew Geneslaw, MD.

The fund wasestablished this year with contributions to the Department of Pediatrics from private donorsand is designed to bring a venture capital approach to supporting new research in childrens health.

The Innovation Nucleation Fund will allow our talented faculty the freedom to pursue innovative, bold ideas in research that could lead to the next major breakthrough in childrens health, saysJordan S. Orange, MD, PhD, the Reuben S. Carpentier Professor and Chair of the Department of Pediatrics at Columbia University Vagelos College of Physicians and Surgeons.

Awards of $10,000 to $50,000 were given to faculty whose projects demonstrated an ability to advance the departments mission of engaging in advocacy, clinical work, education, and basic or clinical translational research.

Advocacy

Sumeet Banker, MD, MPH,assistant professor of pediatrics in child and adolescent health, will study how to improve disparities in care and communication for children and families with limited proficiency in English.

Clinical Program

Michael DiLorenzo, MD,assistant professor of pediatrics in pediatric cardiology, will investigate the use of transcatheter-based imaging to treat lung problems caused by the accumulation of lymphatic fluid in children with congenital heart defects.

Education

Julia Wynn, MS, associate professor of genetic counseling in molecular genetics, will develop an interactive video educational tool to increase participation in pediatric genomics studies. Co-investigators on the project are Priyanka Ahimaz, MS, assistant professor of genetic counseling; Ilana Chilton, MS, lecturer in genetic counseling; Emily Griffin, MS, lecturer in genetic counseling; and Rebecca Hernan, MS, genetic counselor.

Basic/Translational Research

Rebecca Hough, MD, PhD,assistant professor of pediatrics in pediatric critical care medicine, will use imaging of live mouse lungs to better understand cell-to-cell communication underlying pediatric acute respiratory distress syndrome, with the goal of developing targeted therapies for the condition.

Clinical/Translational Research

Jennifer Woo-Baidal, MD, MPH, assistant professor of pediatrics in pediatric gastroenterology, hepatology, and nutrition, with co-investigator Dodi Meyer, MD, professor of pediatrics, will evaluate the implementation of Food FARMacia, a novel, clinically based food assistance program to prevent childhood obesity by tackling food insecurity in families with children under age 5.

Faculty INF Award

Andy Geneslaw, MD,instructor in pediatrics in pediatric critical care medicine, will use mobile technology to understand the neurodevelopment effect of severe respiratory failure in infants and toddlers.

A total of 25 proposals were submittedfor consideration by five senior faculty from the Department of Pediatrics.The application process was extremely competitive, and we received many superb proposals, says Orange. We look forward to seeing the impact of these brilliant researchers and their efforts in the near future.

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