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- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
News Release
Researchers at the National Institutes of Health and their colleagues have identified genomic variants that cause a rare and severe inflammatory skin disorder, known as disabling pansclerotic morphea, and have found a potential treatment.
… for disabling pansclerotic morphea, a severe inflammatory disease. … Researchers at the National Institutes of Health … a predoctoral fellow within NHGRI's Inflammatory Disease Section, a medical student at the University of South … distinguished investigator, head of NHGRI’s Inflammatory Disease Section and a senior author of the paper. “We hope …
Event
The Genomics and Health Disparities Lecture Series was formed to enhance opportunities for dialogue about how innovations in genomics research and technology can impact health disparities. Topics will range from basic science to translational research.
News Release
By considering mixed genetic lineages, NHGRI researchers demonstrated that previously inferred links between a genomic variant that helps digest lactose and traits such as a person’s height and cholesterol level may not be valid.
… to different traits helps researchers estimate polygenic risk scores and may give clues about a person’s ability to … analyses, we can improve the predictive value of polygenic risk scores and facilitate genomic medicine.” The reference …
News Release
NIH researchers have developed and released an innovative software tool, called Verso, to assemble truly complete (i.e., gapless) genome sequences from a variety of species. The software makes the process of assembling complete genome sequences more affordable and accessible.
News Release
Research points to the effects of nutrients in how DNA mutates in the mitochondria.
… mitochondria need to have a specific mutation to cause a disease.” Future studies are needed to look more directly at …
News Release
NHGRI researchers have shown that areas of the genome related to brain development harbor variants that may account for behavioral differences among different dog lineages.
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.
… in a genomic region known to be associated with increased risk for type 2 diabetes-related traits, which may give … Prolonged high blood sugar levels can lead to heart disease, kidney disease and vision loss. Currently, diabetes has no cure, but …
News Release
Researchers from NHGRI, Oxford University and other National Institutes of Health centers have developed and tested a new method to predict hospital-acquired infections involving five other important pathogens.
… … This year, COVID-19 added an additional layer of risk to patients who entered the U.S. healthcare system. With … in the proximity of an infected person increases one's risk of infection, it does not consider the amount of time a … with an infected person and its association with the risk of infection. "We wanted to ask the question of how …
News Release
Scientists are exploring the genomic and clinical profiles of people with RUNX1 familial platelet disorder.
… changes in other parts of the genome can affect a person’s risk of developing leukemia. By conducting exome sequencing, … other genomic factors that could increase or decrease the risk of developing leukemia. More data will be needed to make … this population helps patients understand their lifetime risk of developing leukemia,” said Deuitch. “By getting a …
Profile
After major advances in hematology, David Bodine retires with an eye towards mentorship and a garden
David Bodine, founder of the Hematopoiesis Section and chief of the Genetics and Molecular Biology Branch, advanced the fields of gene therapy and hematology in his 38 years at the NIH. Now, he plans to continue his contributions to science as an emeritus and through training the next generation of scientists.
… Dr. Bodine contributed to both biological insights about disease-causing mutations and the ability to overcome the …