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- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)1
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Multi-Omics for Health and Disease (Multi-Omics)1
News Release
Researchers recommend genomic approaches to discovering inherited variants in one or a handful of genes that affect an individual's rare disease risk.
… an ongoing challenge of distinguishing variants that cause disease from those that do not. Scientists estimate that each … "Deciding which genomic variants are important players in disease is probably the most difficult challenge that we face … jumping to the conclusion that if a patient has the same variant as was previously implicated in a disease, then they …
News Release
Six new grants will support researchers for new computational approaches to search millions of genomic variants for disease susceptibility.
… genomic variants to find those that make a difference in disease susceptibility or in other traits. The awards are for … the genomes of thousands of people with and without a disease are compared to find the genomic regions containing … what that role might be. "Before we can understand how a variant or gene functionally contributes to a disease - and …
News Release
As researchers uncover millions of DNA differences in genes, doctors struggle to know which of these inherited differences, called variants, really matter.
… researchers know little about their roles in health and disease. Clinicians and researchers hope to use information about genomic variants to evaluate individual disease risk, make better diagnoses, develop more appropriate … results with uncertain findings about whether a gene or variant is disease-causing," said Jonathan Berg, M.D., Ph.D., …
Research Funding
The N​on-Coding Variants Program explores which variants in a region associated with a disease or trait cause the higher risk for the disease or trait
… in only a few people. Most of these variants do not affect disease risk, response to drugs or other traits such as … the genomes of thousands of people with and without a disease or trait are compared to find the chromosomal regions … methods to integrate many data sets related to gene and variant function, to predict which variants (or narrow the …
Research Funding
A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes.
… The Centers for Common Disease Genomics (CCDG) are a collaborative large-scale … explores a range of diseases with the goal of: Undertaking variant discovery for enough different examples of disease …
News Release
NIH and Inova Health are launching The Genomic Ascertainment Cohort, a pilot project that will examine gene and gene variant influence on phenotypes.
… Cohort, a pilot project that will examine gene and gene variant influence on phenotypes. ​ … The Genomic … Ascertainment Cohort, TGAC, genotypes and phenotypes, gene variant influence, gene variants and disease conditions, gene variants and traits, Leslie …
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke, and have also … influences in the development of stroke and cardiovascular disease, and may also help lead to new treatment strategies. … in the prevention and treatment of stroke, cardiovascular disease and many other common diseases," said Stephen R. …
Talking Glossary
When analysis of a patient’s genome identifies a variant, but it is unclear whether that variant is actually connected to a health condition, the finding is called a variant of uncertain significance (abbreviated VUS).
… Variant of Uncertain Significance (VUS) … When analysis of a patient’s genome identifies a variant, but it is unclear whether that variant is actually … information is required to determine if the variant is disease related. Such information may include more extensive …
Research Funding
​The Undiagnosed Diseases Network accelerates discovery and innovation in how we diagnose and treat patients with previously undiagnosed diseases.
… that this type of cross-disciplinary approach to disease diagnosis is feasible to implement in academic … and self-sustained network that fosters scientific discovery and provides expert diagnostic services for … of Funding Opportunity (NOFO). The intramural Undiagnosed Disease Program, housed within the NIH Clinical Center and …
News Release
Researchers at the NHGRI's Undiagnosed Disease Program have developed a new toolset for finding potential disease-causing gene variants in undiagnosed patients.
… with the National Institutes of Health Undiagnosed Disease Program (UDP) have developed a powerful new toolset for finding potential disease-causing gene variants in undiagnosed patients. The … that could be responsible for an individual's undiagnosed disease, thereby increasing the likelihood of a diagnosis." …