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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
NIH researchers have identified a striking signature in tumor DNA that occurs in five different types of cancer.
… of DNA called methylation, which can control the expression of genes like a dimmer on a light switch. … Higher … found by the researchers in some tumor DNA, decreases a gene's activity. Based on this advance, the researchers hope … but we found an elevated methylation signature around the gene known as ZNF154 that is unique to tumors." Dr. Elnitski …
News Release
NIH researchers searched for how the body signals the lack of oxygen in melanoma skin cancer.
News Release
NHGRI researchers have identified a genomic signature for some aggressive prostate tumors, which may help healthcare providers pinpoint treatment options.
… cancer. Both men and women can inherit a faulty BRCA2 gene from either their mother or father. When working properly, the BRCA2 gene helps stop cells from becoming cancerous by producing … alterations that inactivate both copies of the BRCA2 gene. Tumors with inactivated BRCA2 had other additional …
News Release
A team from the NIH has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease.
… is an inherited condition caused by alterations in the GBA gene. It affects one in every 50,000 to 100,000 people, but … therapy for Gaucher disease, Ellen Sidransky Ph.D., GBA gene alterations, glucocerebroside accumulation … A team from …
Research Funding
A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes.
… multiple common disease phenotypes. … Genome Sequence, Gene Variants, Genetic Risk, Common Disease, Rare Disease, …
News Release
NHGRI convened geneticists, biologists, clinicians, bioinformatics specialists and more to provide expert advice on the future of its Genome Sequencing Program.
… are rare and typically due to alterations in a single gene. The Centers for Mendelian Genomics have made … variant discovery, genomics and medicine, Adam Felsenfeld, gene variant discovery … NHGRI convened geneticists, …
News Release
Baylor College of Medicine. Houston and the Medical College of Wisconsin, Milwaukee will be providing DNA sequencing for the Undiagnosed Diseases Network.
… may affect a disease condition. Investigation of gene function is a critical step in the process leading to … or new diseases. Recipients of the new NIH awards to study gene function (pending available funds) are: Baylor College … the function of a mutation in the FRMPD4/Preso1 gene that is thought to be responsible for neurological …
News Release
NIH recently awarded approximately $6.8 million in grants to several research teams to study the biology of rare and undiagnosed diseases.
… the potential disease-causing effects of approximately 200 gene variants per year that are thought to be involved in … modify the zebrafish and fruit fly to study the gene variant in question. They add a human gene variant or turn off the gene activity of a similar …
News Release
20 papers published online in 2014 highlight research on DNA biorepositories and electronic medical records to better understand the genomics of disease.
… medical records in genomic research studies to understand gene-disease associations. A large number of samples in … and included: Genetic variants of FTO , an obesity-related gene. An electronic medical record-based, phenome-wide … new disease associations for genetic variants of FTO , a gene related to obesity in adults. Joshua Denny, M.D., …
The Genomics Landscape
In the January 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly developed polygenic risk scores webpage, which provides graphical and textual information about polygenic risk scores, describes polygenic traits, introduces how polygenic risk scores can be calculated, and explains how such scores can be interpreted.
… to see a 20-minute preview of the “Ken Burns presents The Gene: An Intimate History” documentary. Specifically, on Feb. … and feature patient voices … Special preview of “The Gene” documentary at 2020 AAAS Annual Meeting … NHGRI to host … in Genomic Science (CEGS), Rare Disease Day, The Gene, South by Southwest … In the January 2020 edition of The …