Search Results
Research Training
An opportunity for students to receive individualized research mentoring, learn about careers in genomics and have access to a network of early-career genome scientists.
… of efforts to unearth clues about the complex genetic pathways involved in human diseases. These efforts have used … deafness; various neurological, developmental, metabolic and immunological disorders; and others. The NHGRI …
Graduate Medical Education
An opportunity for a 4-to-8-week elective in the National Human Genome Research Institute (NHGRI) at the NIH Clinical Center in Bethesda, MD.
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… Gahl's research has focused on the natural history of rare metabolic disorders and the discovery of new genetic … ABMG and ASHG, as president of the Society for Inherited Metabolic Disorders, and was elected to the American Society … Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B. The Metabolic and Molecular Basis of Inherited Disease. …
Staff
Dr. Pamela Schwartzberg is a adjunct investigator in NHGRI's Genetic Disease Research Branch.
… at the National Cancer Institute, working on signaling pathways involving tyrosine kinases as a special fellow of … studies to understand T cell signaling, with a focus on pathways affected by primary immunodeficiencies. Dr. … molecules, these receptors initiate signal transduction pathways that orchestrate cellular changes and …
Clinical Research
The study collects genetic and medical information from people with GNE myopathy to understand the symptoms and clinical course of GNE myopathy.
… A, Gibson K, Mitchell G. eds. OMMBID - The Online Metabolic and Molecular Bases of Inherited Diseases .  New … glycosphingolipids in GNE myopathy. Journal of Inherited Metabolic Disease , 37:297-308. 2014. [ PubMed ] 2013 Yardeni …
Staff
Dr. Shurjo Sen is a program director in NHGRI's Division of Genome Sciences who manages a portfolio of grants focused upon genomic data sciences, and is particularly interested in transitioning genomics from a centralized data repository model to cloud-based collaborative science.
Educational Resources
Diabetes mellitus is a disease characterized by an inability to make or use the hormone insulin.
News Release
Using a recently developed DNA base-editing technique, researchers correct accelerating aging disorder.
… a senior investigator in NHGRI's Medical Genomics and Metabolic Genetics Branch, NIH director and a corresponding …
Clinical Research
Post COVID-19 Vaccine Registry for people with mitochondrial disease who have already received the COVID-19 vaccine.
Staff
Dr. Bell is a senior investigator at the National Human Genome Research Institute's Cancer Genetics and Comparative Genomics Branch.
… EGFR mutations in lung cancer activate anti-apoptotic pathways. Science, 305:1163-1167. 2004. [ PubMed ] *Kwak EL, … carcinoma: Etiologic importance of hormonal and metabolic influences. (Review). Adv Exp Med Biol , 943:3-46. … meeting report on identifying key genes and molecular pathways for targeted endometrial cancer trials. Oncotarget , …