(Press-News.org) New York, NY (September 17, 2024) – A new four-year, $3.26 million grant from the National Institute of Neurological Disorders and Stroke (NINDS), a part of the National Institutes of Health (NIH), establishes the first Undiagnosed Diseases Network (UDN) site in the New York metropolitan area. Patients of all ages with difficult-to-diagnose diseases can apply to have their cases studied intensively by the new Mount Sinai Center for Undiagnosed Diseases using state-of-the-art genomic approaches as soon as the beginning of 2025.
These funds expand the work of the Undiagnosed Diseases Program, previously sponsored by The Mindich Child Health and Development Institute at Mount Sinai through private philanthropy. The co-Principal Investigators are Bruce D. Gelb, MD, Gogel Family Chair and Director, The Mindich Child Health and Development Institute, and Professor of Pediatrics, and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai; and Manisha Balwani, MD, MS, Professor of Genetics and Genomic Sciences, and Medicine, at Icahn Mount Sinai and Chief, Medical Genetics and Genomics, Mount Sinai Health System. They aim not only to provide this unique resource to patients in the New York metropolitan region, but also to engage communities underrepresented in medical research to assure that the UDN’s capabilities are made available equitably. To help improve diversity, Drs. Gelb and Balwani are partnering with the Institute for Family Health.
“There are approximately 25 million Americans who suffer from a rare disorder,” said Dr. Gelb, who is also Dean for Child Health Research and Director of the Center for Molecular Cardiology at Icahn Mount Sinai. “We hope this program will end diagnostic odysseys and inform meaningful therapies for these traits. We also hope this work will increase awareness among physicians in the Mount Sinai Health System about the utility of genomic medicine.”
According to the UDN, undiagnosed diseases are defined as long-standing symptoms or elusive medical conditions that have not been diagnosed despite extensive clinical evaluation. The UDN has facilitated difficult diagnoses for more than 650 people nationwide in the past decade.
“When patients and families endure symptoms without a diagnosis, it can cause a great deal of emotional stress,” said. Dr. Balwani. “The search for answers can be both a financial burden and a physical burden as patients jump from provider to provider, hoping for a solution. With our new Center, we aim to shed light on diseases that are not well recognized due to low incidence, document new diseases that will hopefully lead to cures, and uncover rare variations of more common diseases. This grant will enable us to provide the highest level of care, ensuring that patients receive the most advanced diagnostic services available. The goal is to alleviate the burden of these undiagnosed diseases and also bring great satisfaction to patients and providers alike while laying the groundwork for future solutions.”
The NIH Common Fund established the UDN in fiscal year 2013 and it was transitioned from Common Fund to NINDS in 2023. UDN comprises a nationwide network of clinicians and researchers who use both basic and clinical research to uncover the underlying disease mechanisms associated with these conditions. The network has an international reputation for establishing exemplary clinical practices, standards, and pipelines for genomics-based diagnoses.
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About the Mount Sinai Health System
Mount Sinai Health System is one of the largest academic medical systems in the New York metro area, with 48,000 employees working across eight hospitals, more than 400 outpatient practices, more than 600 research and clinical labs, a school of nursing, and a leading school of medicine and graduate education. Mount Sinai advances health for all people, everywhere, by taking on the most complex health care challenges of our time—discovering and applying new scientific learning and knowledge; developing safer, more effective treatments; educating the next generation of medical leaders and innovators; and supporting local communities by delivering high-quality care to all who need it.
Through the integration of its hospitals, labs, and schools, Mount Sinai offers comprehensive health care solutions from birth through geriatrics, leveraging innovative approaches such as artificial intelligence and informatics while keeping patients’ medical and emotional needs at the center of all treatment. The Health System includes approximately 9,000 primary and specialty care physicians and 11 free-standing joint-venture centers throughout the five boroughs of New York City, Westchester, Long Island, and Florida. Hospitals within the System are consistently ranked by Newsweek’s® “The World’s Best Smart Hospitals, Best in State Hospitals, World Best Hospitals and Best Specialty Hospitals” and by U.S. News & World Report's® “Best Hospitals” and “Best Children’s Hospitals.” The Mount Sinai Hospital is on the U.S. News & World Report® “Best Hospitals” Honor Roll for 2024-2025.
For more information, visit https://www.mountsinai.org or find Mount Sinai on Facebook, Twitter and YouTube
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UPTON, N.Y. — The Blavatnik Family Foundation and the New York Academy of Sciences have recognized chemical engineer Juan Jimenez as a Finalist in the 2024 Blavatnik Regional Awards for Young Scientists. Jimenez’s catalysis science research at the U.S. Department of Energy’s (DOE) Brookhaven National Laboratory opens doors for turning climate change-driving gases into industrially useful materials.
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NEW YORK – September 17, 2024 – The Blavatnik Family Foundation and The New York Academy of Sciences today announced the three Laureates and six Finalists of the 2024 Blavatnik Regional Awards for Young Scientists. The Awards honor outstanding postdoctoral scientists from academic research institutions across New York, New Jersey, and Connecticut.
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