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The Genomics Landscape
In the March 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly appointed Dr. Chris Gunter's role as Senior Advisor for Genomics Engagement as well as the 30 oral histories to celebrate the 30th anniversary of the launch of the Human Genome Project.
… DATA Scholars Program, DSI-Africa, ClinGen, Long QT Syndrome … In the March 2020 edition of The Genomics …
Staff
Lindsey Criswell, who became the director of the National Institute of Arthritis and Musculoskeletal and Skin Diseases in February, 2021 is also an associate investigator in NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… (RA); systemic lupus erythematosus (SLE), Sjögren’s syndrome, major histocompatibility complex (MHC), biological …
Diversity Center
The University of Texas Rio Grande Valley (UTRGV) has established a Diversity Center for Genome Research that will build UTRGV’s genomics research capacity by 1) expanding genomic research capabilities and discoveries in two innovative research projects; and 2) enhancing the size and quality of the available genomics workforce.
… genomics research.      … Administrative Cores Lead: Sarah Williams-Blangero, Ph.D. The Administrative Core (AC) will … the center.     Workforce Development Core Co-Leads: Sarah Williams-Blangero, Ph.D. and Jacob Galan, Ph.D. The Workforce … in genetics.    Community Engagement Core Co-Leads: Sarah Williams-Blangero, Ph.D., and Jacob Galan, Ph.D. Mexican …
Profile
Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… group was the first to uncover the cause of Saul-Wilson syndrome and characterize the disorder. What are some key … Ferreira: We found that all patients with Saul-Wilson syndrome have the same genomic changes and similar clinical … heart. One that he knows particularly well is Saul-Wilson syndrome, a condition so rare that only four patients …
Partner with NHGRI
NHGRI's technologies, inventions and discoveries are available for licensing.
… … Mouse Models Mouse Model of Hutchinson-Gilford Progeria Syndrome and Vascular Abnormalities DHHS Reference No.: …
News Release
A two-day international gathering on genomic medicine from more than 25 countries recommended ways to improve the use of genomics in medicine.
… diseases, such as Crohn's disease and irritable bowel syndrome. "The plan is to use this as a model to investigate … interested they are in collaborating," she said. Marc S. Williams, M.D., director of the Genomic Medicine Institute at … portals all tied to a single governmental identifier." Dr. Williams noted several innovative efforts in …
Research Training
A one-year fellowship program that trains highly motivated physicians to diagnose, manage, and counsel patients with inborn errors of metabolism.
… Inborn Errors of Metabolism, cystinosis, Hermansky-Pudlak syndrome, Undiagnosed Diseases Program Fizza Gulamali-Majid, … Wendy Introne, M.D. Alkaptonuria, Chediak-Higashi syndrome Eirini Manoli, M.D., MPH Organic acidemias, Moebius syndrome Melissa Merideth, M.D., MPH Gynecologic aspects of …
The Genomics Landscape
In the July 7, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., emphasizes the importance of the Technology Transfer Office and its mission to manage all the legal negotiations that help to protect federally funded research from being unduly exploited, while also giving that research avenues to reach patients through the commercialization of promising advances.
… Research Using AI to advance understanding of long COVID syndrome Immune modulator drugs improved survival for people … new member for 2022: Francis Collins Selection of Kevin Williams as director of the NIH Office of Equity, Diversity, …
Event
On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.
… IDH1 mosaicism P237  Diagnosis of Cornelia de Lange Syndrome Through EPISign Whole Genome Methylation Assay: …
Staff
Dr. Teri Manolio is the director of the Division of Genomic Medicine at the National Human Genome Research Institute. ​
… directions in genetically mediated Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis. Clinical Pharmacology … RL, Green ED, Jacob HJ, McLeod HL, Roden D, Rodriguez LL, Williams MS, Cooper GM, Cox NJ, Herman GE, Kingsmore S, Lo C, … JB, Holm IA, Kullo IJ, Jarvik GP, Larson EB, McCarty CA, Williams MS, Denny JC, Rasmussen-Torvik LJ, Roden DM, Ritchie …