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News Release

NIH-supported projects remove major obstacles to genomic medicine

NIH programs are establishing which genes and genomic variants play a role in human disease, enabling use in medicine and research.

… A healthcare provider consults with a patient about her genetic test results. Image Credit: Darryl Leja, NHGRI … epilepsy and RASopathies; the latter is a group of rare genetic conditions that include Noonan syndrome, …

News Release

NIH awards $50.3 million for “multi-omics” research on human health and disease

NIH is establishing the Multi-Omics for Health and Disease Consortium, with approximately $11 million awarded in the consortium’s first year of funding. The new consortium aims to advance the generation and analysis of “multi-omic” data for human health research.

… involved in human health and disease, including untangling genetic and non-genetic factors in health and disease. Such an approach …

News Release

NIH researchers develop guidelines for reporting polygenic risk scores

Research studies are now using polygenic risk scores to determine a person’s inherited risk for certain diseases, but there are inconsistencies in how these scores are calculated. NHGRI has published guidelines in Nature for how these scores should be reported.

… builds off another best practice model called the Genetic Risk Prediction Studies (GRIPS) statement, published … smaller set of genomic variants and gene scores. However, genetic risk prediction models have evolved rapidly since …

Event

Research Directions in Genetically-Mediated Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis