Search Results
Research Funding
A list of members who contribute to the goals of the IGVF Consortium by generating data and/or analyses, sharing data and/or analyses freely through the IGVF Data and Administrative Coordinating Center (DACC), and/or by contributing to cross- consortium integrative analyses.
… and cell types, (2) identify causal mediator genes and pathways underlying disease variation, and (3) decode … consortium group to identify causal variants, genes, and pathways associated with cardiometabolic disease.  Matthias … for mapping genetic variants associated with genes and pathways in trans , leveraging various data modalities such …
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 , …
News Release
In honor of Rare Disease Day, experts from the UDN turned to Reddit to answer questions during an "Ask me Anything."
… then do a post-doctoral fellowship in a lab that studies pathways or cell biology, currently or potentially related to … and based on what we find we proceed with genetic and metabolic testing. This often involves genome or exome … a physician thinking about rare diseases might be: (1) The Metabolic and Molecular Bases of Inherited Disease (a four …
File
… Exploring the Microbiome and Its Connection to Metabolic Syndrome …
Genetic Disorders
The porphyrias are a group of different diseases, each caused by a specific abnormality in the heme production process.
Educational Resources
Diabetes mellitus is a disease characterized by an inability to make or use the hormone insulin.
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 …
File
… system development.5. These microbial genes encode myriad metabolic capabilities.6. The human microbiome … of specific microbes and/or specific microbial metabolic pathways are characteristic of disease patients vs …
Staff
Dr. Heidi Sofia served as a program director in the Division of Genomic Medicine at the National Human Genome Research Institute from 2010-2023.
… of Crp-Fnr transcription regulators: exploiting the metabolic spectrum by controlling alternative gene programs. … that links unresolved steps in familiar biosynthetic pathways with radical mechanisms: Discovery and functional …
News Release
A new study highlights how genomic mutations that cause mitochondrial disease may also compromise affected people's immune response.
… Related Resources Cytochrome c Oxidase Activity Is a Metabolic Checkpoint that Regulates Cell Fate Decisions … [cell.com] Peter McGuire, M.D. Medical Genomics and Metabolic Genetics Branch 2016 News Feature: Training docs to …