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Boyd named chief scientific officer at Cancer Institute – News – The Island Now

Posted: February 23, 2020 at 7:44 am

Jeff Boyd will be serving as vice president and chief scientific officer and director of the Center for Genomic Medicine at Northwell Health Systems Cancer Institute in Lake Success. He will also hold an appointment as professor and member of the Cold Spring Harbor Laboratory Cancer Center.

Boyd, who began in his position on Feb. 10, was working at the Miami Cancer Institute when he received the offer from Northwell.

It sounded like a great opportunity, Boyd said. Part of it involved being director of the Center for Genomic Medicine, being chief of science for the Cancer Institute, working at the Cold Spring Harbor lab, strengthening that relationship, providing them access to oncologists here, as well as tissue specimens and such that they need in a cancer research lab.

Part of the doctors job will involve the creation of a clinical laboratory and molecular diagnostic lab certified by the Department of Health, where researchers can obtain tumor specimens from cancer patients, isolate DNA and use a state-of-the-art technology known as next-generation DNA sequencing to define genetic architecture of a specific tumor in an individual.

Every breast cancer is different, liver cancer is different, colon cancer is different by the person, Boyd said.

The institute is also looking into the mutations that cause normal cells to turn cancerous, matching certain mutations to specific drugs in a way that Boyd likens to a lock and key.

Were at a point now in our understanding of cancer genetics in drugs being developed that we can match specific drugs precision cancer medicine match a drug to a mutation in that patients tumor, and it stops what its doing to make a normal cell a cancer cell, Boyd said. Thats whats looking to replace chemotherapy. Most of the therapy is nontoxic, it would describe mutations in tumor and any drugs available for that mutation, and thats the future of cancer treatment.

Another operational unit has to do with banking cancer specimens and fluids like blood and urine from cancer patients, where a state-of-the-art specimen vial depository that will take samples ranging from tumor tissue, blood, and urine, all connected to electronic med record.

The days of taking small bits of tumor or vials of blood and putting them in freezer are gone, Dr. Boyd said.

These specimens will be available to any researchers in the Northwell system, as well as those in the Cold Spring Harbor laboratory.

Our colleagues at Cold Spring Harbor are important to the success of our work, Dr. Boyd said.

Dr. Richard Barakat, physician-in-chief and director of the Northwell Health Cancer Institute and senior vice president of cancer services at Northwell Health, had worked with Dr. Boyd at Memorial Sloan Kettering Cancer Center.

Genomics has become an important piece to helping us understand the genetic roots of the various forms of cancer, which is why it has become an important area of investment for Northwell Health, Barakat said. We are extremely fortunate to have such an esteemed cancer researcher and internationally-known genomics expert such as Boyd to join the Cancer Institutes leadership team.

Boyd has over 30 years of cancer research experience, most recently serving on the executive leadership team of the Miami Cancer Institute at Baptist Health South Florida as associate deputy director of translational research and genomic medicine.

He also served as a professor and chair of the department of human and molecular genetics, professor of obstetrics and gynecology, and associate dean for basic research and graduate programs at the Herbert Wertheim College of Medicine at Florida International University.

Prior to joining the Miami Cancer Institute in 2015, Dr. Boyd held senior leadership positions at prominent cancer centers across the country, serving as the first executive officer of the Cancer Genome Institute at the Fox Chase Center in Philadelphia, Penn.

He also held numerous senior positions at Memorial Sloan-Kettering Cancer Center and served as a faculty member at the University of Pennsylvania and the National Institutes of Health.

Boyd says he and his wife are in the process of moving and hope to live in Lloyd Harbor, close to the Cold Spring Harbor laboratories.

I like to build things, Dr. Boyd said. Ive been in this cancer research and clinical care space for decades, and there is unparalleled opportunity here.

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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

Posted: February 23, 2020 at 7:44 am

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

Posted: February 23, 2020 at 7:44 am

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

Posted: February 23, 2020 at 7:44 am

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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Record number of faculty appointed as distinguished professors in honor of IU’s Bicentennial Year – IU Newsroom

Posted: February 23, 2020 at 7:44 am

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

Posted: February 23, 2020 at 7:44 am

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

Posted: February 23, 2020 at 7:44 am

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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With supply tight, Novartis readies gene therapy plant for production – BioPharma Dive

Posted: February 22, 2020 at 11:48 am

Supplies of Zolgensma, the gene therapy approved last year for spinal muscular atrophy, are tight.

Novartis, which sells the one-time treatment, can currently make about 700 to 800 doses a year at its manufacturing plant in Libertyville, Illinois. That's enough to cover the infants in the U.S. currently eligible to receive Zolgensma but leaves little room for treating a wider group of patients, which the Swiss drugmaker aims to do.

On Thursday, executives from AveXis, the Novartis unit that developed Zolgensma, opened a new facility in Durham, North Carolina, that the company views as a critical cog in its plans to expand supply of the gene therapy.

Initial production will begin this spring. But until the Food and Drug Administration licenses the plant, Novartis won't be able to use product made there for commercial sale. The company expects to gain approval next year.

Between now and then, Novartis also hopes to secure regulatory OKs for manufacturing Zolgensma at a site in Longmont, Colorado, bought last year, and through the contract manufacturer Catalent.

"There is a short-term challenge over the next six to nine months to make sure that we can manage the supplies that are out there," said David Lennon, president of Novartis' AveXis unit, in an interview.

"We feel comfortable where we are, but we'd love to have these other sites onboard to make sure we're really robust and don't face any risks of shutdowns or anything that could impact supply."

Limited supply has also kept Novartis from widening a program set up to make the gene therapy available free of charge to patients in countries where it's not yet approved. The "expanded access" scheme, which was launched in January, randomly allocates doses of Zolgensma for participating patients under the age of two with genetically confirmed spinal muscular atrophy.

This year, Novartis plans to distribute 100 doses through the lottery, which has been criticized as putting a child's life to chance.

"We obviously know that not everyone is happy with the program," said Lennon. "We're still considering what we might do, but we're open to making changes if it makes sense for the community and to meet the goals of the program."

Lennon said he hoped to expand the program as more manufacturing capacity for Zolgensma becomes available.

Novartis has committed upwards of $200 million to building out the site in Durham, which will employ about 400 staff by the end of the year.

Spanning 170,000 square feet, the facility will be used for both commercial Zolgensma manufacturing as well as to support clinical production of other gene therapies that Novartis is developing.

"This is as much an investment in the short term in building out our supply for Zolgensma, as it is for the long term to have the flexibility to deliver on a robust pipeline," said Lennon.

Novartis currently expects to treat about 100 infants every three months in the U.S. under Zolgensma's current label. But it's also working to expand the therapy's approval to treat older children over two using a spinal injection rather than an infusion.

That patient population is significantly larger and will test Novartis' ability to produce a steady supply of the drug, although the FDA has placed a partial "hold" on the study testing the new dosing.

Novartis' launch of Zolgensma is under significant scrutiny, both because of the $2.1 million price tag the drugmaker put on the therapy and due to a data manipulation scandal that engulfed the company last year.

Despite the high cost, insurers have largely covered treatment, leading to strong sales of Zolgensma in its first three quarters on the market.

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New Gene Therapies Institute Aims to Address Regulatory Barriers – HealthITAnalytics.com

Posted: February 22, 2020 at 11:48 am

February 20, 2020 -The Institute for Gene Therapies (IGT), a new advocacy foundation focused on policy issues surrounding gene therapies, recently launched with the goal of modernizing US regulatory and reimbursement framework for gene therapies.

According to IGT, the US health system currently spends about 85 cents of every healthcare dollar managing the symptoms of chronic diseases over a patients lifetime. With gene therapies, providers could alter patients non-functioning genes or replace absent ones, leading to long-lasting effects and potentially reshaping the way thousands of diseases are treated.

While traditional biologic and pharmaceutical medicines help manage the symptoms of disease over time, gene therapies target the cause of disease at the DNA level, creating lasting changes in the body. Some gene therapies are also designed to be one-time treatments that offer lifelong benefits.

IGT will work to educate stakeholders across the healthcare system about the potential for gene therapies to treat and cure common and rare chronic diseases, and advocate for policies that help ensure patients who need gene therapies can benefit from them.

Existing regulatory and reimbursement structures were established and adjusted over time to support pharmaceutical and biologic medicines, IGT noted, and need refining to accommodate the potential of gene therapies.

READ MORE: Data Mining Techniques Could Improve Cancer Gene Therapies

Many crippling conditions like Charcot-Marie-Tooth (CMT), which I was diagnosed with before the age of two take hold at a very young age, cut lives far too short or cause ongoing daily suffering, said Susan Ruediger, CEO of the CMT Research Foundation (CMTRF) and member of the IGT Patient Advocacy Advisory Council.

Like so many diseases, CMT currently has no cure. I am proud to stand with other leading patient advocates, members of the research community and companies that are developing gene therapies to help ensure patients can fully realize the benefits of these giant leaps toward treatments and cures.

The FDA has already approved four gene therapy products, and researchers are studying hundreds more in clinical trials for rare and common diseases, including many types of cancer, neuromuscular diseases, blood disorders and infectious diseases, and other conditions.

The growth of innovative research and product development in the field of gene therapy is exciting to us as physicians, scientists and regulators, FDA Commissioner Stephen M. Hahn, MD, said in a statement.

We understand and appreciate the tremendous impact that gene therapies can have on patients by potentially reversing the debilitating trajectory of diseases. These therapies, once only conceptual, are rapidly becoming a therapeutic reality for an increasing number of patients with a wide range of diseases, including rare genetic disorders and autoimmune diseases.

READ MORE: Genetic Sequencing Study Identifies 102 Genes Associated with Autism

The FDA has also released six final guidance documents on gene therapy manufacturing and clinical development of products. These documents incorporate input from stakeholders across the healthcare industry and make important strides in designing a modern structure for gene therapy development.

As the regulators of these novel therapies, we know that the framework we construct for product development and review will set the stage for continued advancement of this cutting-edge field and further enable innovators to safely develop effective therapies for many diseases with unmet medical needs, said Peter Marks, MD, PhD, director of the FDAs Center for Biologics Evaluation and Research.

Scientific development in this area is fast-paced, complex, and poses many unique questions during a product review; including how these products work, how to administer them safely, and whether they will continue to achieve a therapeutic effect in the body without causing adverse side effects over a long period of time.

IGT will being together experts across the healthcare community, including corporate leaders, patient advocacy groups, and academic and scientific stakeholders, to ensure health policies reflect the latest advancements in gene therapies. The institute will also work to remove barriers that limit patient access to these therapies and promote sustainable, long-term solutions.

Experts will learn more about the value gene therapies bring to patients, their families, and the healthcare system as a whole. IGT will help advance chronic disease treatments and get to the root cause of some of the most debilitating, expensive conditions that affect patients throughout their lives.

READ MORE: 77% of Americans Are Optimistic About Genetics Research, Potential

The incredible scientific advancements in this space present unique opportunities to directly improve and save the lives of patients suffering from debilitating diseases, said IGT Chairman, and former Congressman Erik Paulsen.

This is not some far-off future patients are already benefiting from the first FDA-approved gene therapies. But we need policy to move faster toward this new reality where we can treat the causes of many diseases. The Institute for Gene Therapies and our members believe unique regulatory and reimbursement structures need to be established, novel development pathways need to be embraced and new value-based arrangements need to be tested.

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Audentes to Build $109 Million Gene Therapy Factory in North Carolina – BioSpace

Posted: February 22, 2020 at 11:48 am

Audentes Therapeutics, an Astellas company, announced it is building a gene therapy manufacturing plant in Sanford, North Carolina.

The company is investing $109 million in a new 135,000-square-feet facility, with the initial phase to take place over about 18 months. It is planned to go into operation in 2021. It is expected to create more than 200 new jobs in Lee County, North Carolina. Hiring is expected to start this year.

Our investment in large-scale manufacturing has always been a cornerstone of our strategy to develop and ultimately deliver our important genetic medicines to patients as rapidly as possible, said Natalie Holles, president and chief executive officer of Audentes. This new facility in Sanford will support the next phase of our growth as we establish a robust, global supply chain and expand our therapeutic and geographic scope as a part of the Astellas group of companies. We are excited to join the vibrant biopharmaceutical research and manufacturing community that the state of North Carolina has established.

Audentes is headquartered in San Francisco and focuses on gene therapy. It was acquired by Tokyo-based Astellas Pharma in January.

No specifics were given about what the site will manufacture. In October 2019, Audentes announced positive data from ASPIRO, the clinical trial of AT132 in patients with X-Linked Myotubular Myopathy (XLMTM). AT132 is an AAV8 vector that contains a functional copy of the MTM1 gene. XLMTM is a serious, life-threatening, rare neuromuscular disease marked by extreme muscle weakness, respiratory failure and early death.

The company indicates it hopes to submit a Biologics License Application (BLA) for AT132 to the U.S. Food and Drug Administration (FDA) later this year.

An announcement ceremony was held in the industrial shell building the company is buying in the Central Carolina Enterprise Park. It is about 45 miles southwest of Raleigh.

Gov. Roy Cooper stated, With our powerhouse research centers and highly skilled workforce, biotech pioneers recognize North Carolinas role as a leader in the life sciences. Lee County is a perfect fit for Audentes as they seek to become a global leader in genetic medicines.

The employees at the new factory are expected to earn an average salary of $83,900, which is a little over twice the Lee County average of $41,800. If Audentes hits hiring milestones, it will qualify for a state Job Development Investment Grant worth up to $3.7 million.

The county and the city of Sanford are also offering $5.7 million incentives, which includes almost $400,000 in training support from the North Carolina Community College System.

Audentes chose the location over California, Massachusetts and Colorado.

In every interaction, I was impressed with Audentes patient-centric approach to developing their AAV-based gene therapy to transform the lives of affected patients and families, said Laura Rowley, NCBiotechs director of life science economic development. She led the Centers outreach activity with Audentes. Their decision to grow in North Carolina reflects the Research Triangle regions specialized training capabilities and strengths in gene therapy and biomanufacturing. The passion and focus of the Audentes team makes me confident that they will be an outstanding addition to North Carolinas gene therapy community.

Audentes is acting as the Center of Excellence for Astellas newly founded Genetic Regulation Primary Focus.

Audentes Therapeutics is joining one of the nations top life science clusters, said Anthony M. Copeland, North Carolinas Commerce Secretary. North Carolina has the largest biomanufacturing workforce in the nation and a growing concentration of gene therapy scientists, researchers and workers.

The site of the new plant is quite close to Pfizers new gene therapy campus, which is under construction. That $600 million research and manufacturing facility has a 230-acre campus in Sanford and will employ 340 people.

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