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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 …
Research Funding
MorPhiC aims to develop a consistent catalog of molecular and cellular phenotypes for null alleles for every human gene by using in-vitro multicellular systems.
… and relationships of genes and regulatory elements in pathways and networks, which is one of the compelling genomic … and relationships of genes and regulatory elements in pathways and networks. MorPhiC Phase 1 will include three …
Research Funding
NHGRI is initiating a new program-the Impact of Genomic Variation on Function (IGVF) Consortium to develop a framework for systematically understanding the effects of genomic variation on genome function and how these effects shape phenotypes.
… Predicting the impact of genetic variants, genes and pathways on human disease HG012009 Predrag Radivojac … 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 …
Research Funding
A list of current and previous Centers of Excellence in Genomic Science (CEGS) grant awards.
… on complex and difficult-to-control endogenous DNA repair pathways. Collectively, these technologies will usher in a … robust, comprehensive exploration of genes and genetic pathways responsible for human disease in addition to the … disease or brain injury? What specific molecular pathways are disrupted in individual pediatric cancer cases? …
Research Funding
Effort to accelerate understanding of the molecular basis of cancer using genome analysis technologies, including large-scale genome sequencing.
…  (2014)  Rare kidney tumor provides insights on role of metabolic changes in cancer r  (2014)  TCGA researchers …
Research Funding
The centers define the state-of-the-art study designs and methods to find variants and genes underlying Mendelian disorders.
… or more complex phenotypes that involve similar genes, pathways, and phenotypes. While the genetic basis of more …
Event
The National Human Genome Research Institute and its partners are organizing a social media campaign from June 7-11, 2021, that focuses on healthcare provider genomics education.
… of Medicine Food and Drug Administration (FDA) Genetic Metabolic Dietitians International (GMDI) Genome Plus, …
Event
On November 1-5, 2023, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.  The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.Â
Research Funding
The primary mission of the Alliance of Genome Resources (the Alliance) is to develop and maintain sustainable genome information resources that facilitate the use of diverse model organisms in understanding the genetic and genomic basis of human biology, health and disease. This understanding is fundamental for advancing genome biology research and for translating human genome data into clinical utility.
… alleles and variants, human disease associations, pathways, gene expression, and both protein–protein and …