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Fact Sheet
Sickle cell disease resources for healthcare providers
… welcomes your feedback about the sickle cell disease gene therapy resources. Please email your comments or questions to … are meant to promote your general understanding of gene therapy for sickle cell disease. We encourage you to use … Shared Decision Making ASGCT Lunch and Learn Webinar: Gene Therapy 101 … CDC Scientific Articles about SCD National …
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 …
The Genomics Landscape
In the January 2018 edition of The Genomics Landscape, NHGRI Director Eric Green features the NIH Intramural Sequencing Center.
… to genomics: " pinpoint gene editing ," " a cancer drug's broad swipe ," and " gene therapy triumph ." Nature's  list of Science Events that … Research Dr. Collins Discusses Advances in Gene Therapy with the Associated Press Unlocking Life's Code : …
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 …
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 …
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
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," …
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 …
News Release
Researchers from The Cancer Genome Atlas Research Network identify novel mutations in a well-known cancer-causing pathway in lung adenocarcinoma.