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Event
A joint NHGRI-NCATS hosted meeting bringing together researchers, clinicians, families and patient advocates from around the world to discuss the natural history, disease pathophysiology, genetics and treatments for rare inborn metabolic errors.
… A. Chapman, M.D., Ph.D. 3:10 - 3:30 p.m. Systemic AAV gene therapy for propionic acidemia (PA) Randy Chandler, Ph.D. … David S. Rosenblatt, M.D. 10:30 - 10:45 a.m. High-Dose B12 Therapy for cblC Deficiency Irini Manoli, M.D., Ph.D. 10:45 - … p.m. Treatment of CBS Deficient Mice by AAV-Mediated Gene Therapy Warren Kruger, Ph.D. 2:30 - 3:00 p.m. Break  Session …
Event
On February 16, 2023, the National Human Genome Research Institute (NHGRI) held a follow-up working group consultation after the 14th Genomic Medicine meeting, Genomic Medicine XIV: Genomic Learning Healthcare Systems.
… It almost never gets used. We have CDS for >30 gene-drug pairs in our EHR; this may be relevant, but is not … a consultservice. We have a physician who is expert in drug interactions and PGx, Tom Callaghan, M.D., Ph.D., who has a special clinic setup for difficult cases of drug therapy adverse events and consults for PGx. In our Oncology …
Research Training
A fellowship that will prepare fellows to use genetic, genomic and pharmacogenomic approaches to advance minority health and health equity.
… Genome Research Institute (NIH NHGRI) and the Food and Drug Administration’s Office of Minority Health and Health … working closely with mentors at both FDA OMHHE, Center for Drug Evaluation and Research (CDER) and NIH NHGRI, providing …
News Release
NHGRI has selected Charles Venditti, M.D., Ph.D., as chief of its Metabolic Medicine Branch within the Institute’s Intramural Research Program. In this role, he will provide leadership and guidance on research into genetic diseases that disrupt metabolism.
News Release
Top genome scientists from over 20 countries have joined forces in an effort to improve cooperation and coordination of genomic medicine research worldwide.
… groups covering pharmacogenetics (the role of genetics in drug response); generation of clinical evidence; information … [The National Institutes of Health and the Food and Drug Administration (FDA) sponsored a workshop in March on …
News Release
NIH investigators have discovered that genomic switches of a blood cell are key to regulating the human immune system.
… arthritis. When the scientists exposed human T cells to a drug used to treat the disease, tofacitinib, the activities … and the pharmacological effects of a rheumatoid arthritis drug-are all pointing to the importance of super-enhancers," …
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.
… are in the process of running a clinical trial to test a drug that acts on the receptor. … Soo: What are you looking … and approaches currently being developed, such as gene therapy and the use of small molecules. By improving our …
News Release
Researchers from The Cancer Genome Atlas Research Network identify novel mutations in a well-known cancer-causing pathway in lung adenocarcinoma.
The Genomics Landscape
In the December 2, 2021 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., spotlights the re-opening of the Genome: Unlocking Life’s Code exhibition at the Smithsonian’s National Museum of Natural History (NMNH) in Washington, D.C.
… in genomic science and health equity with the Food and Drug Administration (FDA) Office of Minority Health and … Minority Health and Health Disparities) and the Food and Drug Administration Office of Minority Health and Health …
Partner with NHGRI
NHGRI's technologies, inventions and discoveries are available for licensing.
… are available for licensing, including candidate gene therapy-based therapeutics, mouse models of genetic disorders … Ph.D. (NHGRI) Office of Technology Transfer Abstract Gene Therapy for Niemann-Pick Disease Type C (NPC) DHHS Reference …