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News Release
A repurposed cancer drug appears to reduce the severity of lesions and pain experienced by people with Proteus syndrome
… Biesecker, M.D., chief of the NHGRI Medical Genomics and Metabolic Genetics Branch and the study's corresponding …
Fact Sheet
Pharmacogenomics is a growing area of genomic medicine that uses a patient's genomic information to help healthcare providers select the medications and dosages that are predicted to work best in each patient.
News Release
Researchers have conducted the first study to look at the genomic underpinnings of obesity in continental Africans and African Americans.
… obesity, said Charles N. Rotimi, Ph.D., chief of NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics … Americans, we are providing new insights into biological pathways for obesity that have not been previously explored," … College of Medicine, University of Lagos, Endocrine and Metabolic Unit, Lagos, Nigeria -- Olufemi Fasanmade, Thomas …
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 …
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.
Intramural Training Office
Three-minute talk (TmT) presentation videos from previous years dating back to 2015.
… VEXAS Daniela Ospina Cardona Postbaccalaureate Fellow, Metabolic, Cardiovascular, and Inflammatory Disease Genomics … a predictive network model Cihan Oguz Research Fellow, Metabolic, Cardiovascular and Inflammatory Disease Genomics … in African Americans Cihan Oguz Research Fellow, Metabolic, Cardiovascular and Inflammatory Disease Genomics …