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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 …
The Genomics Landscape
In the January 5, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., talks about how artificial intelligence and machine learning are becoming omnipresent throughout NHGRI and in genomics.
… the best,   … Rare and common genetic determinants of metabolic individuality and their effects on human health … innate and foreign substances. In some cases, these metabolic changes can impact physical traits such as risk of …
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 …
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 …
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. …
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? …
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 …
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 …