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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Enhancing Opportunities in Computational Genomics and Data Science1
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Advancing Genomic Medicine Research (AGMR)1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards2
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
News Release
NHGRI has selected Sara Chandros Hull, Ph.D., and Shawn Burgess, Ph.D., as deputy scientific directors of NHGRI’s Intramural Research Program.
… efficient gene-knockout technologies to understand the genomic basis of traits of interest. For example, he has been …
News Release
In a new large-scale genetic analysis, National Institutes of Health (NIH) scientists have found set of small RNA molecules, called microRNAs, in human pancreatic cells that are strongly associated with type 2 diabetes.
… islets and diabetes.” The researchers also found genomic variants that are associated with the quantity (or … expression level) of certain microRNAs in the cell. These genomic variants might explain the variation seen in the … of specific microRNAs among different people. One of these genomic variants was found in a genomic region known to be …
News Release
NIH researchers compared a new genetic animal model of Down syndrome to the standard model and found the updated version to be enhanced.
News Release
Researchers from NHGRI and the Undiagnosed Diseases Program (UDP) have discovered a new neurological condition characterized by issues with motor coordination and speech.
… coordination and speech. They report their findings in npj Genomic Medicine . Scientists from NIH’s National Human … ATG4D that are more difficult to analyze — and we have the genomic and cellular tools to do so.” Computational analyses …
News Release
NHGRI researchers found that a protein in the immune system is particularly adaptable to mutations.
News Release
Dr. Gahl honored for his leading efforts to diagnose and treat individuals with rare and undiagnosed diseases.
News Release
NHGRI researchers have discovered clues to the possible cause of recurring, non-contagious fevers and sores that affect only children. Several genes have been implicated with the syndrome, known as PFAPA syndrome (Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis), which could lead to new treatments.
… connections with the help of increasing amounts of genomic data. In 1987, researchers first described a syndrome … in patients, such as STAT4 , IL10 , and CCR1-CCR 3. Due to genomic similarities between PFAPA syndrome, Behçet’s and …
News Release
Using a recently developed DNA base-editing technique, researchers correct accelerating aging disorder.
News Release
Researchers have now identified three health conditions for which people with SCT are at increased risk.
News Release
NHGRI researchers, collaborators at the University of California (UC) San Diego, UC Davis and the University of Pittsburgh School of Medicine lay out a new framework for comparing dog-to-human aging, one that uses epigenetics as a biological marker to better understand the aging process.