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Staff
Dr. Douglas Stewart is an associate investigator in NHGRI's Center for Precision Health Research.
… DR. Evidence of perturbations of cell cycle and DNA repair pathways as a consequence of human and murine …
Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
… the rate of progression of HD or correct or replace other metabolic defects contributing to the development and … discovered how the genetic mutation alters chemical pathways to cause the disease. By identifying these changes, …
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 …
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 …
The Genomics Landscape
In the April 2024 issue of The Genomics Landscape, NHGRI Director Eric Green details how the Office of Genomic Data Science (OGDS) is becoming the epicenter for genomic data science at the institute, with numerous collaborations, projects and activities.
… The researchers found that type 2 diabetes disrupts metabolic processes consistently across populations. Additionally, the study highlighted a new metabolic signature that could help in determining a person’s …
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.
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.
Clinical Research
Post COVID-19 Vaccine Registry for people with mitochondrial disease who have already received the COVID-19 vaccine.