Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Sections
Divisions
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.
… defects in the propionyl-CoA and vitamin B12 (cobalamin) metabolic pathways. This meeting will bring together researchers, … pathophysiology, genetics and treatments for rare inborn metabolic errors. We will also review the opportunities and …
Event
On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.
… treatment Trial in Patients with Alkaptonuria Biochemical/Metabolic and Therapeutics March 14, 2024, 4:15 – 5:45 p.m … for Cerebral Creatine Deficiency Syndromes Biochemical/Metabolic and Therapeutics … Poster Presentations  No. Title … Where Epigenetics, Cancer and Hypoxia meet P134 Neuronal Pathways by Differential Tractography Correlate with Clinical …
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. …
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 …
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.
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 …
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 , …
The Genomics Landscape
In the March 2024 issue of The Genomics Landscape, NHGRI Director Eric Green spotlights the Centers of Excellence in Genomic Science (CEGS) Program evaluation.
… involve strengthening the connectivity of particular pathways in the brain. The researchers propose that either …
The Genomics Landscape
In the September 3, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about the Impact of Genomic Variation on Function (IGVF) Consortium, the 2020 Genomic Innovator Awards and more.
… and their regulatory elements, cell types, and biological pathways. The IGVF Consortium is being designed to advance … on Genomics and Global Health, as well as Chief of the Metabolic, Cardiovascular, and Inflammatory Disease Genomics … the genomic, social, and cultural determinants of metabolic diseases with implications for health disparities. …
The Genomics Landscape
In the October 6, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., celebrates the 25th anniversary of the NIH Intramural Sequencing Center (NISC). a well-respected and highly used large-scale DNA sequencing center that exemplifies the evolution of the field of genomics and the ever-increasing abilities to produce prodigious amounts of genomic data.
… M.D., Ph.D. , as chief of the recently established Metabolic Medicine Branch within the Institute’s Intramural … Program. Dr. Venditti was selected for his expertise in metabolic diseases as well as his leadership and mentorship … became a senior investigator in the Medical Genomics and Metabolic Genomics Branch. Dr. Venditti will begin his …