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- Developmental Genotype-Tissue Expression (dGTEx)1
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
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.
… focus on several key areas, such as study design, gene- and variant-level implication, databases and implications for diagnosis. Gene-level implication refers to finding evidence that an alteration in a gene may cause or contribute to a disease. Variant-level …
News Release
NIH programs are establishing which genes and genomic variants play a role in human disease, enabling use in medicine and research.
… which is a lack of evidence about the relationship between gene variants and diseases. A special issue of Human Mutation … to develop standard processes for reviewing data about gene variants and their connections to health and disease. … for disease diagnosis and treatment. Information on the gene variants is stored in ClinVar, which is funded and …
Staff
Dr. Simona Volpi is the deputy director of the Division of Genomic Medicine at the National Human Genome Research Institute.
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… grants and contracts related to the Genotype-Tissue Expression (GTEx) Project as well as the newly established … … Simona Volpi, common diseases, Genotype-Tissue Expression Project (GTEx), NIH Common Fund … Dr. Simona Volpi …
News Release
NIH investigators have discovered that genomic switches of a blood cell are key to regulating the human immune system.
… called enhancers, which act like switches to control gene activities. Dr. O'Shea's team wondered if the … Content … NIH researchers reveal link between powerful gene regulatory elements and autoimmune diseases … NIH …
Research Funding
The Genome Sequencing Program uses genome sequencing to identify genes and genomic variants underlying human inherited disease.
Media Availability
TCGA researchers have found that chromophobe renal cell carcinoma stems partly from gene alterations in the mitochondria, the cell's energy supplier.
… tumor is characterized by genetic rearrangements near a gene important in DNA repair and in maintaining telomerase, … the first to show specific alterations affecting the TERT gene that could affect cancer development, and might help explain its increased expression - and deregulation - in cancer. Overall, the …
The Genomics Landscape
In the October 1, 2020 edition of The Genomics Landscape, Dr. Eric Green reflects on the last 30 years since the launch of the Human Genome Project.
… 30 years ago. …  Researchers from the Genotype-Tissue Expression Project (GTEx) consortium, an NIH Common Fund … a set of studies describing how DNA variation can alter gene expression. The group of papers, published in Science … most comprehensive catalog of genomic variants that affect gene expression produced to date. The studies focus on …
Staff
Dr. Colin Fletcher is the program director in the Knockout Mouse Project (KOMP) in NHGRI's Extramural Research Program.
Staff
Dr. Rongling Li is an epidemiologist and program director in the Division of Genomic Medicine at the National Human Genome Research Institute.
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… variant in the duffy antigen receptor for chemokines gene. PLoS Genetics , 5(1): e1000360. 2009. [ PubMed ] CY … Zmuda, TB. Harris. Plasminogen activator inhibitor type 1 gene polymorphisms and haplotypes are associated with plasma … "The 894T allele of endothelial nitric oxide synthase gene is related to left ventricular mass in African Americans …
News Release
Investigators with The Cancer Genome Atlas Research Network have identified new potential therapeutic targets for a major form of bladder cancer.
… mutated. They discovered mutations in the TP53 gene in nearly half of the tumor samples, and mutations and … They found frequent mutations in the ERBB2 , or HER2 , gene. The researchers also identified recurring mutations as … for which targeted drugs already exist. Because the HER2 gene and its encoded protein, HER2 - which affects cell …