Category Archives: Genetic medicine

CAMBRIDGE, Mass. and GAINESVILLE, Fla., Aug. 11, 2020 (GLOBE NEWSWIRE) -- Sarepta Therapeutics, Inc. Inc. (NASDAQ:SRPT), the leader in precision genetic medicine for rare diseases, and the University of Florida today announced a strategic collaboration to enable cutting-edge research for novel genetic medicines. Through the agreement, Sarepta will fund multiple research programs at the University, and will have an exclusive option to further develop any new therapeutic compounds that result from the funded research programs.

We have developed a productive incubator approach to our pipeline development, partnering with the best and brightest in genetic medicine, including leading academic researchers like those at the University of Florida, to discover and translate into meaningful therapies genetic medicine for rare diseases, said Sarepta President and CEO Doug Ingram. Weare excited topartner with andsupportUF research that has the potentialto profoundlyimproveand extend the lives of patients with rare genetic-based diseases.

Through the collaboration, currently unique to UF, funding has been allocated for four innovative projects. These projects include exploratory research in novel gene therapy vectors, next-generation capsids and gene editing technologies as well as work in new therapeutic areas in degenerative genetic diseases. The goal is to foster early relationships with experts and accelerate the scientific advancements that lead to the development of transformational precision genetic medicines for patients in need.

Our researchers intend to find solutions for diseases that have no cure or limited therapeutic options. Their goal is to move these solutions from their labs to patients who need them to see their discoveries change lives. Because Sarepta has a focus and expertise in disease areas that coincide with the work of some of our scientists, its a match and collaboration that make sense and, we hope, will save lives, said Jim OConnell, assistant vice president of UF Innovate, the technology commercialization arm of the university. Sarepta has a bold vision for transforming genetic disease because the company, ultimately, serves patients. That end goal drives its willingness and ability to translate research into a medical reality. We want to be part of that.

University of Florida is a gene therapy powerhouse. UF researchers were the first to discover the life cycle of the adeno-associated virus (AAV), the smallest human virus. Using AAV as a benign delivery vehicle to carry therapeutics to a target, UF was first to reverse blindness in dogs with genetic disease, and UF researchers were integral in the first gene therapy approved by the FDA to treat an inherited genetic disease that can cause blindness. Today, UF is developing technologies in manufacturing, capsid design and therapies to address neuromuscular, cardiovascular, inflammatory, metabolic, pulmonary, skeletal, ophthalmic, and other disorders.

About SareptaAt Sarepta, we are leading a revolution in precision genetic medicine and every day is an opportunity to change the lives of people living with rare disease. The Company has built an impressive position in Duchenne muscular dystrophy (DMD) and in gene therapies for limb-girdle muscular dystrophies (LGMDs), mucopolysaccharidosis type IIIA, Charcot-Marie-Tooth (CMT), and other CNS-related disorders, with more than 40 programs in various stages of development. The Companys programs and research focus span several therapeutic modalities, including RNA, gene therapy and gene editing. For more information, please visitwww.sarepta.comor follow us onTwitter,LinkedIn,InstagramandFacebook.

Sarepta Forward-Looking Statements This press release contains "forward-looking statements." Any statements contained in this press release that are not statements of historical fact may be deemed to be forward-looking statements. Words such as "believes," "anticipates," "plans," "expects," "will," "intends," "potential," "possible" and similar expressions are intended to identify forward-looking statements. These forward-looking statements include statements regarding the ability of the collaboration between Sarepta and UF to engage in cutting-edge research for novel genetic medicines; Sareptas commitment to fund multiple research programs at UF; Sareptas option to further develop any new therapeutic compounds that result from the funded research programs; Sareptas incubator approach to discover and translate into meaningful therapies genetic medicine for rare diseases; the collaborations potential to profoundly improve and extend the lives of patients with rare genetic-based diseases; the collaborations ability to foster early relationships with experts to accelerate the scientific advancements that lead to the development of transformational precision genetic medicines; and Sareptas vision to transform genetic disease and translate research into a medical reality.

These forward-looking statements involve risks and uncertainties, many of which are beyond Sareptas control. Known risk factors include, among others: the expected benefits and opportunities related to the collaboration between Sarepta and UF may not be realized or may take longer to realize than expected due to challenges and uncertainties inherent in product research and development. In particular, the collaboration may not result in the discovery of any new therapeutic compounds or any viable treatments suitable for commercialization due to a variety of reasons, including any inability of the parties to perform their commitments and obligations under the agreement; Sarepta may not be able to execute on its business plans and goals, including meeting its expected or planned regulatory milestones and timelines, clinical development plans, and bringing its product candidates to market, due to a variety of reasons, many of which may be outside of Sareptas control, including possible limitations of company financial and other resources, manufacturing limitations that may not be anticipated or resolved for in a timely manner, regulatory, court or agency decisions, such as decisions by the United States Patent and Trademark Office with respect to patents that cover Sareptas product candidates and the COVID-19 pandemic; and those risks identified under the heading Risk Factors in Sareptas most recent Annual Report on Form 10-K for the year ended December 31, 2019, and most recent Quarterly Report on Form 10-Q filed with the Securities and Exchange Commission (SEC) as well as other SEC filings made by Sarepta which you are encouraged to review.

Any of the foregoing risks could materially and adversely affect Sareptas business, results of operations and the trading price of Sareptas common stock. For a detailed description of risks and uncertainties Sarepta faces, you are encouraged to review the SEC filings made by Sarepta. We caution investors not to place considerable reliance on the forward-looking statements contained in this press release. Sarepta does not undertake any obligation to publicly update its forward-looking statements based on events or circumstances after the date hereof.

Contacts:

Sarepta Therapeutics Investors: Ian Estepan, 617-274-4052, iestepan@sarepta.comMedia: Tracy Sorrentino, 617-301-8566, tsorrentino@sarepta.com

UF Innovate: Sara Dagen, 352-294-0998, saradagen@ufl.edu

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Sarepta Therapeutics and University of Florida Announce Collaboration to Accelerate the Discovery and Development of Therapies for Rare Genetic...

Conspiracy theories are everywhere and in the age of social media, theyre hard to escape. But why do they flourish so easily, even when we have so much information at our fingertips? According to Pulling The Thread, a new digital series on WORLD Channel, our brains have a lot to do with it.

The capacity of the human brain to be irrational is really remarkable, said Pulling The Thread filmmaker Kristin Pichaske about conspiracy theories. The six-part series dives into cognitive psychology to understand why were so susceptible to misinformation. The goal of the series is really to help us all think about how we think. And how can we, by understanding how our brains work, hope to be a little more rational and more accurate in terms of what we think, what information we take in, and, maybe most importantly, what sorts of media we share online.

Each episode dives into an area that is rife with conspiracy theories, from politics to science fiction to tragedies. Episode three explores the roots of medical conspiracy thought in the Black community, and the lingering healthcare challenges that this legacy perpetuates today. "Conspiracy theories about HIV are really understandable if you look at the context of how that played out, but have negative health outcomes, right? So people who think [HIV] was created in a lab somewhere on purpose are less likely to get tested and engage in safe behavior," says Pulling the Thread filmmaker Kristin Pichaske.

Here are five reasons conspiracy theories thrive in medicine, according to Pulling The Thread:

1. African Americans are more likely to mistrust doctors because of real historical events.

The Tuskegee Study, conducted between 1932 and 1972 by the United States Public Health Service, followed African American men with syphilis so that doctors could learn about the natural course of the disease. The men were offered free treatment for the disease, but were never actually given any medical treatment, even after a reliable cure for the disease was discovered. Not only did many of the patients die from a curable disease; they also unwittingly passed the disease to their spouses. The experiment continued for forty years, and was only stopped when a whistleblower made the study public. "This sounds like a prototypical conspiracy theory," says Rob Brotherton, author of Suspicious Minds: Why We Believe Conspiracy Theories, in the film. "This shady experiment that was put on by the government, which involved people's health and keeping important information from them." But it's not a conspiracy theory: it's 100% real.

2. The Tuskegee Study wasn't an isolated incident.

The study ended in 1972; well within living memory. For many young people in the Black community, stories of medical harm from parents and grandparents have a profound and lasting impact. "Automatically, in your brain you're going to be thinking 'I can't trust these people,'" says Alicia Williams, Community Outreach and Engagement Manager at Howard Brown Health, in the film.

Medical research in the United States has been an institutionalized system of inequality from its inception. One historical example is that of HeLa cells, an immortal cell line used for breakthrough cancer research, which were unwillingly and unknowingly taken from a Black woman, Henrietta Lacks. Lacks' family was never compensated, even though her genetic contributions led to major medical discoveries. And this is just one example: Black Americans have been abused by the medical system and used as unwilling or unknowing test subjects throughout the history of the United States, and are still recieving substandard medical care to this day.

3. Sometimes, paranoia is protection...

"When you talk about levels of mistrust, is it paranoia, or is it self care?" asks Dexter Voisin, University of Chicago Professor, in the film. Black women are 4 to 5 times more likely to die from childbirth than white women. Studies have found that Black patients are systematically undertreated for pain, and also that most health care professionals have an implicit bias against Black patients, which contributes to a lower quality of care and worse outcomes for Black patients. For Black Americans, knowing the long history of mistreatment from the medical establishment, being wary of doctors isn't just understandable it can be the safest choice.

4. ... and other times, Prudent Paranoia puts people at risk.

The HIV epidemic took hold only about 10 years after the Tuskegee Study concluded, and the mysterious new disease disproportionately affected marginalized communities, including Black Americans. It was a perfect candidate for conspiracy. For doctors and community advocates, this made effectively stemming the tide of transmission and treating the disease much more difficult, because the Black community was and is understandably hesitant to trust. Years of mistreatment left people vulnerable to conspiracy thought, despite the unlikelihood of a global conspiracy to hide a cure for HIV. Based on mathematical models, David Grimes, a Mathematician at Queens University, says that, "the idea of trying to sustain that many people for that long in a dangerous, unethical fiction? it just doesn't work when you put the numbers to it."

5. Facts are no match for fear and distrust.

Just because an algorithm exists to debunk conspiracy theories doesn't mean people will believe it. "I'm telling you, that pales to the strength of the human mind to believe whatever it wants," says Williams in the film. "The problem isn't the lack of trust in the African American community, it's the lack of trustworthiness in the medical community," says Dr. Maya Green, Medical Director at Howard Brown Health. The only antidote to conspiracy thought is building trust by respecting the autonomy of Black patients and working with medical personnel who are themselves members of the communities they seek to help.

Curious about how your own brain works in regard to conspiracy theories? Use the Discussion and Activity Guide to explore for yourself and watch the whole series here.

Chris Hastings, WORLD Channel Executive Producer and Editorial Manager, contributed to this interview.

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5 Reasons Why Conspiracy Theories Thrive In Medicine And Health - wgbh.org

Injections of a natural energy molecule prompted regrowth of almost half of the cartilage lost with aging in knees, a new study in rodents shows.

The study results revolve around the long-established idea that machines within animal and human cells turn the sugars, fats, and proteins we eat into energy used by the bodys millions of cells. The molecule most used to store that energy is called adenosine triphosphate, or ATP. Along with this central role in metabolism, adenosine also helps signal other cells and serves as a building block of genetic material, and so is central to the growth of human tissue.

Previous research had shown that maintaining supplies of adenosine, known to nourish the chondrocyte cells that make cartilage, also prevented osteoarthritis in similar animal models of the disease.

In the new NYU Grossman School of Medicineled study, researchers injected adenosine into the joints of rodents whose limbs had been damaged by inflammation resulting from either traumatic injury, such as a torn ligament, or from massive weight gain placing pressure on joints. The biological damage in these cases is similar, researchers say, to that sustained in human osteoarthritis.

Published online in the journal Scientific Reports on August 10, the study rodents received 8 weekly injections of adenosine, which prompted regrowth rates of cartilage tissue between 50 percent and 35 percent as measured by standard laboratory scores.

Our latest study shows that replenishing adenosine stores by injection works well as a treatment for osteoarthritis in animal models of the disease, and with no apparent side effects, says lead study author Carmen Corciulo, PhD, a postdoctoral fellow at NYU Langone.

Dr. Corciulo says it is too soon to use this experimental model as a therapy in people. Clinical trials must await a test drug that can be safely stored for days if not weeks, and experiments in larger mammals.

Study senior investigator Bruce N. Cronstein, MD, the Dr. Paul R. Esserman Professor of Medicine at NYU Langone Health, says the teams research is important because the few existing drug therapies for osteoarthritis such as acetaminophen and COX-2 inhibitor drugs, including naproxen and ibuprofen, only numb joint pain, or like hyaluronic acid just lubricate its tissues. None stall disease progression or reverse the damage. Painkillers, such as opioids, are often prescribed, but are also highly addictive, he cautions.

People with osteoarthritis desperately need more treatment options with fewer side effects, and our research advances that effort, says Dr. Cronstein, who also serves as the director of NYU Langones Clinical and Translational Science Institute. He notes that other experimental medications are being developed elsewhere, including parathyroid hormone to stimulate bone growth, WNT inhibitor drugs to block the bone and cartilage degradation, and growth factor chemicals to promote cartilage growth.

Dr. Cronstein, Dr. Corciulo, and NYU Grossman School of Medicine have a patent application pending for the use of adenosine and other agents that help with its binding to chondrocytes, called A2A receptor agonists, for the treatment of osteoarthritis.

Among the studys other key findings was that a cell-signaling pathway, known as transforming growth factor beta (TGF-beta) and involved in many forms of tissue growth, death, and differentiation, was highly active in cartilage tissue damaged by osteoarthritis, as well as in cartilage tissue undergoing repair after being treated with adenosine. Additional testing in lab-grown chondrocytes from people with osteoarthritis showed different chemical profiles of TGF-beta signaling during breakdown than during growth, providing the first evidence that the pathway switched function in the presence of adenosine (from assisting in cartilage breakdown to encouraging its repair.)

Developing treatments to halt or slow the disease is important, Dr. Cronstein says, because well over 100 million people worldwide are estimated to have osteoarthritis, which is tied to aging, especially in women. This figure, he says, is only expected to grow as more people live longer and obesity rates climb.

Right now, the only way to stop osteoarthritis is to have affected joints surgically replaced, which not only comes with pain and risk of infection, but is also quite costly, says Dr. Cronstein. If new therapies can delay or prevent disease onset and progression, then fewer joint replacements will save people from a lot of pain and expense.

The study was funded by National Institutes of Health grants R01 AR056672 and R01 AR068593, NYU-HHC Clinical and Translational Science Institute grant UL1 TR000038, and the Arthritis Foundation.

Dr. Corciulo and Dr. Cronstein have a patent for the methods and compositions for treating osteoarthritis and promoting cartilage formation (U.S. Patent 10,441,541), which has been assigned to NYU Grossman School of Medicine. They are cofounders of Regenosine Inc., a company that is developing new treatments for osteoarthritis, and in which they hold a financial interest. Dr. Cronstein has consulted for Eli Lilly, Horizon Pharmaceuticals, Bristol Myers Squibb, and Astrazeneca. He also has grants from Arcus Biopharma. All relationships are being managed in accordance with the policies and practices of NYU Langone.

Besides Dr. Cronstein and Dr. Corciulo, other NYU Langone investigators involved in this study are Cristina Castro, MD; Thomas Coughlin, PhD; Samson Jacob, MS; David Fenyo, PhD; Daniel B. Rifkin, PhD; and Oran Kennedy, PhD.

David MarchPhone: 212-404-3528david.march@nyulangone.org

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New Approach to Treating Osteoarthritis Advances | NYU Langone News - NYU Langone Health

Alan Smith, Ph.D., Joins as Chief Technology Officer

Saira Ramasastry Joins Board of Directors; Arthur Tzianabos, Ph.D., Role Expanded to Chairman

BOSTON, Aug. 05, 2020 (GLOBE NEWSWIRE) -- Akouos, Inc. (Akouos) (Nasdaq: AKUS), a precision genetic medicine company dedicated to developing potential gene therapies for individuals living with disabling hearing loss worldwide, today announced the appointment of Alan Smith, Ph.D., as chief technology officer. In addition, the company announced that Saira Ramasastry has been appointed to its board of directors as audit committee chair, and board member Arthur Tzianabos, Ph.D., has been appointed chairman of the board.

Alan brings terrific experience in the development and manufacturing of complex biologics, and a proven track record of building teams and establishing infrastructure to support in-house GMP manufacturing capabilities, said Manny Simons, Ph.D., founder, president, and chief executive officer of Akouos. Alan joins Akouos at a pivotal time as we prepare to advance our lead program, AK-OTOF, to IND submission next year. We are also excited to welcome Saira, an esteemed life science leader, to our board of directors, and delighted to expand Arthurs role to chairman of our board. Together, these appointments will be instrumental as Akouos continues to grow into a fully integrated genetic medicine company developing innovative potential therapies for a variety of inner ear disorders.

Dr. Smith joins Akouos with more than 30 years of experience in research and development, manufacturing, and quality in the areas of cell and gene therapies. He has contributed to more than 25 FDA regulatory submissions for cell therapy products and devices. Prior to Akouos, Dr. Smith was executive vice president, technical operations at Bellicum Pharmaceuticals, where he led cell product manufacturing, viral vector manufacturing, process development, assay development, GMP supply chain and logistics, worldwide facilities functions, and the design, construction, and startup of multiple GMP manufacturing facilities. Previously, Dr. Smith was vice president of research and development and cellular therapeutics for LifeNet Health and its subsidiary, The Institute of Regenerative Medicine. Earlier in his career, Dr. Smith served as president and chief executive officer for Cognate BioServices Inc. and chief operating officer and senior vice president of research and development for Osiris Therapeutics, Inc. Dr. Smith is also a former adjunct professor at Eastern Virginia Medical School, California State University, Long Beach and Utah State University. He holds a B.S. in chemistry from Southern Utah University and a Ph.D. in biochemistry from Utah State University.

Ms. Ramasastry is managing partner of Life Sciences Advisory, a firm that she founded to provide strategic advice and business development solutions for life science companies. Ms. Ramasastry is also a health innovator fellow of the Aspen Institute and a member of the Aspen Global Leadership Network. Prior to founding Life Sciences Advisory, Ms. Ramasastry was an investment banker with Merrill Lynch & Company, where she helped establish the biotechnology practice and was responsible for origination of mergers and acquisitions, and strategic and capital markets transactions. Prior to joining Merrill Lynch, she served as a financial analyst in mergers and acquisitions group at Wasserstein Perella & Co., an investment banking firm. Ms. Ramasastry currently serves on the board of directors for Vir Biotechnology Inc., Glenmark Pharmaceuticals Ltd., and Sangamo Therapeutics, Inc. She holds a B.A. in economics with honors and distinction and an M.S. in management science and engineering from Stanford University, as well as an M. Phil. in management studies from the University of Cambridge, where she is a guest lecturer for the Bioscience Enterprise Programme and previously served on the Cambridge Judge Business School Advisory Council.

Initially appointed as an independent director to Akouoss board of directors in July 2018, Dr. Tzianabos has now been appointed to serve as chairman. Dr. Tzianabos is currently the chief executive officer and president of Homology Medicines, Inc., leading the efforts to develop genetic medicines for patients with rare genetic diseases. Previously, Dr. Tzianabos spent nine years at Shire Plc, where he worked on the development and launches of multiple treatments for patients with rare genetic disorders. Prior to joining Shire, Dr. Tzianabos was an Associate Professor of Medicine at Harvard Medical School and maintained laboratories at the Channing Laboratory, Brigham and Womens Hospital and the Department of Microbiology and Molecular Genetics at Harvard Medical School. He serves on the board of directors for Stoke Therapeutics, Inc., the Alliance for Regenerative Medicine, and the development board for the University of New Hampshires College of Life Sciences and Agriculture. Dr. Tzianabos holds a B.S. in biology from Boston College and a Ph.D. in Microbiology from the University of New Hampshire.

About AkouosAkouos is a precision genetic medicine company dedicated to developing gene therapies with the potential to restore, improve, and preserve high-acuity physiologic hearing for individuals living with disabling hearing loss worldwide. Leveraging its precision genetic medicine platform that incorporates a proprietary adeno-associated viral (AAV) vector library and a novel delivery approach, Akouos is focused on developing precision therapies for forms of sensorineural hearing loss. Headquartered in Boston, Akouos was founded in 2016 by leaders in the fields of neurotology, genetics, inner ear drug delivery, and AAV gene therapy.

Contact

Media:Katie Engleman, 1ABkatie@1abmedia.com

Investors:Courtney Turiano, Stern Investor RelationsCourtney.Turiano@sternir.com

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Akouos Announces Expansion of Executive Team and Board of Directors - BioSpace

Published on August 11, 2020

Researchers from MedUniVienna have successfully identified a blockade of compounds that activate a rare mutation found in malignant mesothelioma cells, thus halting their unrestricted growth. This highly specific approach makes clear that the best way to treat this rare and fatal form of cancer is through a highly tailored approach.

The mesothelioma investigators focused on the impact that telomerase has on the growth and spread of cancer cells. Telomerase is an enzyme that is active in rapidly dividing cells in our bodies. Though it plays a positive role in most instances, it also facilitates many types of cancer growth and is found in excessive amounts in mesothelioma patients.

The researchers determined that a particularly aggressive subgroup of malignant pleural mesothelioma cells have a distinct genetic mutation that serves to promote the production of the TERT gene, which plays an outsized role in the activation of telomerase. Through this discovery, they were able to identify a new treatment strategy for those suffering from the rare form of cancer and who test positive for the mutation.

Writing in the journalClinical Cancer Research, the researchers explained that the mutation they identified is found in the regulatory region of the cancer cell, which determines how much of a protein is produced. Previous cancer studies have shown that mutations activating the TERT gene are found in families with high genetic tendencies towards cancer, and are associated with other highly aggressive tumors like melanoma and glioblastoma.

Though the TERT gene mutation is only present in a small subgroup of patients diagnosed with malignant pleural mesothelioma, those that have it generally have an extremely poor prognosis. The researchers found that by inhibiting a specific protein linked to the activation of the mutated TERT gene, they were able to block its aggressiveness. According to Walter Berger, Member, Comprehensive Cancer Center, Institute of Cancer Research, Medical University of Vienna, We are currently investigating whether a pharmacological blockade of the ETS factors has potential as a new treatment option for patients with TERT promoter-mutated MPM. If this proves to be the case, the mutation would be both a biomarker for the selection of suitable patients and a therapeutic target an ideal combination for precision medicine.

Every person diagnosed with malignant pleural mesothelioma has a different story of exposure and a different experience with the disease. The Patient Advocates at Mesothelioma.net are here to help you make sense of your situation. Contact us today at 1-800-692-8608.

Learn more about and contact Terri

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Vienna Researchers' Mesothelioma Discovery Highlights Use of Precision Medicine - Mesothelioma.net Blog

What happened

Shares of Editas Medicine (NASDAQ:EDIT) and Beam Therapeutics (NASDAQ:BEAM) rose as much as 23% and 29%, respectively, today after the pair were rumored to be considering a merger. Although investors shouldn't invest based on speculation, a merger would make sense on multiple fronts.

The duo already have an agreement in place to collaborate on genetic medicines, but the struggling pipeline of Editas Medicine could receive a significant boost from Beam Therapeutics. It would also allow Editas shareholders to avoid many of the technical pitfalls of first-generation CRISPR gene-editing tools, which have yet to be adequately reflected in stock prices. Of course, the flip side is that the merger doesn't make as much sense for Beam Therapeutics.

As of 12:50 p.m. EDT, both small-cap stocks had settled to gains of about 14%.

Image source: Getty Images.

There are multiple reasons a merger makes sense. Consider that:

There's not much to the report that Editas Medicine and Beam Therapeutics are considering a merger. Only one digital publication mentions "chatter" without providing any follow-up details. The rumors are at least plausible given the ties to the Broad Institute and overlap of the scientific founders, but investors simply don't have much to go on. That said, a merger would make more sense for Editas Medicine than Beam Therapeutics, as the latter has a much stronger technical foundation to lean on for the long haul.

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Here's Why Shares of Editas Medicine and Beam Therapeutics Are Soaring Today - Motley Fool

News Release

Thursday, August 6, 2020

National Institutes of Health Director Francis S. Collins, M.D., Ph.D., has selected Lindsey A. Criswell, M.D., M.P.H., D.Sc., as director of NIHs National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS). A rheumatologist, Dr. Criswell is currently the vice chancellor of research at the University of California, San Francisco (UCSF). She is a professor of rheumatology in UCSFs Department of Medicine, as well as a professor of orofacial sciences in its School of Dentistry. She is expected to begin her new role as the NIAMS director in early 2021. She will succeed long-time directorStephen I. Katz, M.D., Ph.D., who passed away suddenly in December 2018.

Dr. Criswell has rich experience as a clinician, researcher and administrator. Her ability to oversee the research program of one of the countrys top research-intensive medical schools, and her expertise in autoimmune diseases, including rheumatoid arthritis and lupus, make her well-positioned to direct NIAMS, said Dr. Collins. I look forward to having her join the NIH leadership team early next year. I also want to thank Robert H. Carter, M.D., for his exemplary work as the acting director of NIAMS since December 2018.

As NIAMS director, Dr. Criswell will oversee the institutes annual budget of nearly $625 million, which supports research into the causes, treatment and prevention of arthritis and musculoskeletal and skin diseases. The institute advances health through biomedical and behavioral research, research training and dissemination of information on research progress in these diseases.

The NIAMS Division of Extramural Research supports scientific studies and research training and career development throughout the country through grants and contracts to research organizations in fields that include rheumatology, muscle biology, orthopaedics, bone and mineral metabolism and dermatology. NIAMS-supported research addresses some of the most common and disabling chronic diseases that affect almost every household in America.

Dr. Criswell has been a principal investigator on multiple NIH grants since 1994 and has published more than 200 peer-reviewed journal papers. Her research focuses on the genetics and epidemiology of human autoimmune disease, particularly rheumatoid arthritis and systemic lupus erythematosus. Using genome-wide association and other genetic studies, her research team contributed to the identification of more than 30 genes linked to these disorders.

Dr. Criswells many honors include the Kenneth H. Fye, M.D., endowed chair in rheumatology and the Jean S. Engleman Distinguished Professorship in Rheumatology at UCSF, and the Henry Kunkel Young Investigator Award from the American College of Rheumatology. She also received UCSFs 2014 Resident Clinical and Translational Research Mentor of the Year. During her career, she has mentored some four dozen students (high school through medical/graduate school), medical residents, postdoctoral fellowsand junior faculty.

Dr. Criswell earned a bachelors degree in genetics and a masters degree in public health from the University of California, Berkeley; a D.Sc. in genetic epidemiology from the Netherlands Institute of Environmental Health Sciences, Rotterdam; and an M.D. from UCSF. In addition to completing a residency in internal medicine and a fellowship in rheumatology, she is certified as a first responder in wilderness medicine.

The mission of the NIAMS, a part of the U.S. Department of Health and Human Services' National Institutes of Health (NIH), is to support research into the causes, treatment and prevention of arthritis and musculoskeletal and skin diseases; the training of basic and clinical scientists to carry out this research; and the dissemination of information on research progress in these diseases. For more information about the NIAMS, call the information clearinghouse at (301) 495-4484 or (877) 22-NIAMS (free call) or visit the NIAMS website at https://niams.nih.gov.

About the National Institutes of Health (NIH):NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit http://www.nih.gov.

NIHTurning Discovery Into Health

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NIH taps Dr. Lindsey Criswell as director of the National Institute of Arthritis and Musculoskeletal and Skin Diseases - National Institutes of Health

Weill Cornell Medicines Clinical and Translational Science Center (CTSC) has been awarded a grant from the National Institutes of Health to investigate the role of social and biological factors in determining COVID-19 severity and outcomes in New York City patients.

The two-year, $1.5 million grant will fund projects led by Dr. Julianne Imperato-McGinley, director of the CTSC and The Abby Rockefeller Mauz Distinguished Professor of Endocrinology in Medicine at Weill Cornell Medicine.

The projects co-leaders are Dr. Olivier Elemento, director of the Englander Institute for Precision Medicine and professor of computational genomics in pathology and laboratory medicine at Weill Cornell; and Dr. Said Ibrahim, professor of health care policy and research and senior associate dean for diversity and inclusion at Weill Cornell.

Black and Latino populations have suffered a significantly higher proportion of infection and death from COVID-19 in New York City and across the country. Social determinants of health including lack of access to adequate medical care, crowded housing and exposure from ones occupation can influence the likelihood of acquiring COVID-19.

Co-morbidities such as obesity, diabetes and lung and heart disease that put people at risk for severe illness are also more common in Black and Latino populations.

To assess how socioeconomic factors have contributed to the racial and ethnic disparities, the investigators will compare rates of hospitalization, intensive care unit admissions and deaths from COVID-19 in affluent versus lower income communities within New York City. They will also use data from patients across the NewYork-Presbyterian Hospital system to study patterns in demographics, laboratory results and biospecimens to determine if theres a link between genetic variability, race and ethnicity and severity of COVID-19.

The project builds on Weill Cornell Medicines vision of a clinical research program that combines clinical care, investigation into social determinants of health and basic science research. Leveraging CTSC infrastructure, this approach brings together sources like census and other government data, electronic health records and the institutions newly created biobank of COVID-19 patient specimens.

The team plans to use its findings to build a model to predict who is most susceptible to the disease, which can help shape prevention and treatment strategies and bring precision medicine to COVID-19 patients. The team also aims to expand its work to regional and national analyses, tapping into a database of clinical data from COVID-19 patients that is being assembled by the Clinical and Translational Science Award program national network.

Bridget Kuehn is a freelance writer for Weill Cornell Medicine.

Link:
Grant will fund study into COVID outcome disparities in NYC - Cornell Chronicle

MedicalResearch.com Interview with:

Caspar van der Made, MDResident in Internal Medicine, PhD-studentAlexander Hoischen, PhDGeneticist, Assistant professor,Departments of Human Genetics and Internal Medicine

Radboud University Medical enterNijmegen, The Netherlands

First author Caspar van der Made is a resident in Internal Medicine and PhD-student on the topic of immunogenomics.Alexander Hoischen is geneticist with a special focus on the application of genomic technologies in primary immunodeficiencies and last author of this study.

MedicalResearch.com: What is the background for this study?

Response: This study was initiated to investigate the presence of monogenic factors that predispose young individuals to develop a severe form of COVID-19. It has become clear that several general risk factors such as obesity, hypertension and diabetes mellitus increase the risk of developing severe coronavirus disease. However, even though differences in interindividual genetic make-up are thought to influence the immune response to SARS-CoV-2, such specific genetic risk factors had not yet been identified.

We therefore chose to study young brother pairs (sharing half of their genomes) without any general risk factors that nevertheless contracted severe COVID-19.

We hypothesized these highly selected case series may offer the most optimal chance of identifying a (possible X-linked) primary immunodeficiency specific to COVID-19.

MedicalResearch.com: What are the main findings?

Response: In this case series, two young brother pairs of which all four individuals with a mean age of 26 years required mechanical ventilation at the ICU were enrolled and studied. We performed rapid clinical whole-exome sequencing of the patients and segregation in available family members to identify loss-of-function variants of the X-chromosomal TLR7. This gene encodes the toll-like receptor 7 protein that plays a critical role in the innate immune response against coronaviruses, predominantly by mediating the production of type I interferons. Especially in SARS-CoV-2 infections this response is crucial, as the virus has evasive mechanisms to disrupt a proper type I interferon response. In primary peripheral blood mononuclear cells extracted from the patients, we have shown that the transcription of type I-interferon genes was lower in patients upon stimulation with the TLR7 agonist imiquimod, as compared to controls. Furthermore, the production of the type II interferon IFNg was also decreased in patients.

MedicalResearch.com: What should readers take away from your report?

Response: To our knowledge this is the first report that proposes a specific monogenic factor to develop severe COVID-19. We aim to highlight the important contribution of genetics in the susceptibility to develop COVID-19 and hope to create awareness among physicians to consider genetic evaluation of young patients with unexplained severe COVID-19.

The finding of TLR7 deficiency in these patients furthermore underlines the importance of an intact type I and II interferon response to fight off SARS-CoV-2 and provides insight in the timing of possible treatment options.

MedicalResearch.com: What recommendations do you have for future research as a result of this work?

Response: While the TLR7 deficiency is most likely a rare phenomenon, with an estimate of 1:10,000 TLR7 mutation carriers in the general population; our findings shall be replicated and expanded by others. Similar to other rare disease genetic studies, this shall allow additional insides into disease pathogenesis in general. Further research should focus on the elucidation of the exact role of TLR7-signaling in the pathogenesis of SARS-CoV-2 and ultimately the exploration of rational treatment options.

Also, these findings may provide part of the explanation for the male sex bias observed in COVID-19, which should be addressed more in-depth. More generally, we encourage further studies towards the identification of other genetic risk factors and applaud the efforts already undertaken by other large consortia.

MedicalResearch.com: Is there anything else you would like to add?

Response: We are very grateful to the families that participated in this study, and would like to acknowledge our interdisciplinary team of collaborators.

Any disclosures?

No relevant conflict of interest for any of the authors.

Citation:

van der Made CI, Simons A, Schuurs-Hoeijmakers J, et al. Presence of Genetic Variants Among Young Men With Severe COVID-19.JAMA.Published online July 24, 2020. doi:10.1001/jama.2020.13719

https://jamanetwork.com/journals/jama/fullarticle/2768926

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Genetic Change Detected in Brothers Helps Explain Why COVID-19 More Severe in Men - MedicalResearch.com

$26.5 million total near-term payments to BridgeBio, plus participation in long-term value creation of up to $505 million in milestone payments, tiered double-digit royalty payments and an equity interest in LianBio.

BridgeBio CEO and founder Neil Kumar, Ph.D., has been appointed to LianBios board of directors.

PALO ALTO, Calif., Aug. 11, 2020 (GLOBE NEWSWIRE) -- BridgeBio Pharma, Inc. (NASDAQ: BBIO), a clinical-stage biopharmaceutical company focused on genetic diseases and cancers with clear genetic drivers, today announced that it is partnering with Shanghai-based LianBio, a new company founded by Perceptive Advisors, to expand its global reach into China, the second-largest pharmaceutical market in the world. The partnership marks the first major expansion of BridgeBios pipeline into Asian markets.

This strategic relationship will initially focus on two of BridgeBios targeted oncology drug candidates, FGFR inhibitor infigratinib, currently in Phase 3 development for FGFR-driven tumors and Phase 1-ready SHP2 inhibitor BBP-398, for tumors driven by RAS and receptor tyrosine kinase mutations. The agreement also provides LianBio with preferential future access in the territory to more than 20 drug development candidates currently owned or controlled by BridgeBio. This collaboration is designed to advance and accelerate BridgeBios programs in China and other major Asian markets, allowing BridgeBio to quickly bring innovation to large numbers of patients with high unmet need.

Tremendous patient need and a fast-developing healthcare infrastructure make China a strategic priority. We are eager to not only expand late-stage therapies to the broader patient population there, but also to accelerate our clinical development efforts in Asia and better understand and address the needs of patients there early. We are grateful to be deepening our relationship with Perceptive Advisors through this agreement with LianBio and look forward to a lasting partnership focused on expanding our reach to patients, said BridgeBio CEO and founder Neil Kumar, Ph.D.

We value our relationship with BridgeBio and are happy to be enabling the entry of important programs to LianBios territories, said Adam Stone, CIO of Perceptive Advisors. BridgeBio and its affiliate companies exemplify the commitment to science-driven, precision medicine that we believe is a key driver to innovation in healthcare. We are excited about this opportunity to leverage their promising pipeline and LianBios local expertise to accelerate both global development and local access to leading edge therapeutics.

Under the terms of the agreements, LianBio will receive commercial rights in China and selected Asian markets and participate in clinical development activities for infigratinib (housed in BridgeBio affiliate QED) and BBP-398 (housed in BridgeBio affiliate Navire). BridgeBios near-term economics includes a total of $26.5 million in upfront and milestone payments. BridgeBio will receive up to $505 million in future milestone payments, tiered royalty payments from single- to double-digits on net sales of both products in licensed territories. Additionally, BridgeBio will increase its equity interest via investment in LianBio and BridgeBio CEO Neil Kumar has been appointed to the LianBio board of directors.

LianBio is participating in the ongoing Phase 3 study of infigratinib in first line cholangiocarcinoma (PROOF) in mainland China and further plans to initiate a Phase 2a study of infigratinib in gastric cancer and other FGFR-driven tumors. Additionally, LianBio will contribute to clinical development of BBP-398 in combination with various agents in solid tumors such as non-small cell lung cancer (NSCLC), colorectal and pancreatic cancer, in mainland China and other major Asian markets.

About BridgeBio PharmaBridgeBio is a team of experienced drug discoverers, developers and innovators working to create life-altering medicines that target well-characterized genetic diseases at their source. BridgeBio was founded in 2015 to identify and advance transformative medicines to treat patients who suffer from Mendelian diseases, which are diseases that arise from defects in a single gene, and cancers with clear genetic drivers. BridgeBios pipeline of over 20 development programs includes product candidates ranging from early discovery to late-stage development. For more information, please visitwww.bridgebio.com.

About LianBio

LianBios mission is to catalyze the development and accelerate availability of paradigm-shifting medicines to patients in China and major Asian markets through partnerships that provide access to the best science-driven therapeutic discoveries. LianBio collaborates with world-class partners across a diverse array of therapeutic and geographic areas to build out a pipeline based on disease relevance and the ability to impact patients with transformative mechanisms and precision-based therapeutics. For more information, please visit http://www.lianbio.com.

About Perceptive Advisors

Founded in 1999, Perceptive Advisors is a leading life sciences focused investment firm with over $7billion of regulatory assets under management as of June 30, 2020. Since inception, Perceptive Advisors has focused on supporting progress in the life sciences industry by identifying opportunities and directing financial resources toward the most promising technologies in modern healthcare. For more information, please visitwww.perceptivelife.com.

About QED Therapeutics

QED Therapeutics, an affiliate of BridgeBio Pharma, is a biotechnology company focused on precision medicine for FGFR-driven diseases. Its lead investigational candidate is infigratinib (BGJ398), an orally administered, FGFR1-3 selective tyrosine kinase inhibitor that has shown activity that it believes to be meaningful in clinical measures, such as overall response rate, in patients with chemotherapy-refractory cholangiocarcinoma with FGFR2 fusions and advanced urothelial carcinoma with FGFR3 genomic alterations. QED intends to submit a New Drug Application (NDA) with the United States Food and Drug Administration for second and later-line cholangiocarcinoma in 2020. QED Therapeutics is also evaluating infigratinib in clinical studies for the treatment of achondroplasia. QED plans to conduct further clinical trials to evaluate the potential for infigratinib to treat patients with other FGFR-driven tumor types and rare disorders. For more information, please visit http://www.qedtx.com.

About Navire Pharma

Navire Pharma, an affiliate of BridgeBio Pharma, and in collaboration with the Institute for Applied Cancer Science at MD Anderson, is developing inhibitors of SHP2 as targeted therapeutics for the treatment of multiple cancers. Together with patients and physicians, the company aims to bring safe, effective treatments to market as quickly as possible. For more information, please visit http://www.navirepharma.com.

BridgeBio Pharma Forward-Looking Statements

This press release contains forward-looking statements. Statements we make in this press release may include statements that are not historical facts and are considered forward-looking within the meaning of Section 27A of the Securities Act of 1933, as amended (the Securities Act), and Section 21E of the Securities Exchange Act of 1934, as amended (the Exchange Act), which are usually identified by the use of words such as anticipates, believes, estimates, expects, intends, may, plans, projects, seeks, should, will, and variations of such words or similar expressions. We intend these forward-looking statements to be covered by the safe harbor provisions for forward-looking statements contained in Section 27A of the Securities Act and Section 21E of the Exchange Act and are making this statement for purposes of complying with those safe harbor provisions. These forward-looking statements, including statements relating to BridgeBios anticipated receipt of future milestone and/or royalty payments from LianBio, reflect our current views about our plans, intentions, expectations, strategies and prospects, which are based on the information currently available to us and on assumptions we have made. Although we believe that our plans, intentions, expectations, strategies and prospects as reflected in or suggested by those forward-looking statements are reasonable, we can give no assurance that the plans, intentions, expectations or strategies will be attained or achieved. Furthermore, actual results may differ materially from those described in the forward-looking statements and will be affected by a number of risks, uncertainties and assumptions, including, but not limited to, the success of clinical trials, regulatory filings, approvals and/or sales of infigratinib and BBP-398 in China and other major Asian markets, as well as those risks set forth in the Risk Factors section of BridgeBio Pharmas most recent Annual Report on Form 10-K, Quarterly Report on Form 10-Q and BridgeBio Pharmas other SEC filings. Moreover, BridgeBio Pharma operates in a very competitive and rapidly changing environment in which new risks emerge from time to time. Except as required by applicable law, we assume no obligation to update publicly any forward-looking statements, whether as a result of new information, future events or otherwise.

Contact:Grace RauhBridgeBio Pharma, Inc.Grace.rauh@bridgebio.com(917) 232-5478

Source: BridgeBio Pharma, Inc.

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BridgeBio Pharma Expands Reach Into China and Other Major Asian Markets Through Strategic Collaboration With Perceptive Advisors-Founded Company,...