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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
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- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
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- 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
Profile
Reflecting on his NIH career, Dr. Smith recounts his journey from researcher to program director in a conversation with NHGRI science writer Sonja Soo, Ph.D. He looks ahead to a retirement filled with traveling, spending time with friends and family, playing pickleball and brewing ale.
… to direct some core laboratories in genetics and genomics. We utilized, acquired and implemented some of the … in the field for NCI researchers. My fundamental skills in genomics were refreshed and refined by the opportunity and … 100 papers, spanning across many areas including ecology, genomics, admixture, HIV and AIDS, cardiovascular and kidney …
News Release
Washington University in St. Louis awarded an honorary Doctor of Science to Eric D. Green, M.D., Ph.D., for his contributions to the field of genomics.
… , in recognition of his contributions to the field of genomics and its application to medicine. Dr. Green, director … Institutes of Health, is the driving force for advancing genomics and accelerating scientific and medical … School of Medicine in 1987, the same year the term 'genomics' was coined. In 1992, he was appointed assistant …
News Release
NHGRI researchers have generated the largest catalog of genetic variants associated with physical traits for domesticated dog breeds.
News Release
NHGRI researchers have discovered a new inflammatory disorder called vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS), which is caused by mutations in the UBA1 gene.
News Release
National Institutes of Health researchers have discovered a specific network of proteins that is necessary to restore hearing in zebrafish through cell regeneration. The study may inform the development of treatments for hearing loss in humans.
… Research Institute’s (NHGRI) Translational and Functional Genomics Branch, led the study in collaboration with … loss in humans. The findings were published in Cell Genomics . Although hair cell loss cannot be replaced in … of regeneration. … Read the Study … About NHGRI and NIH … Genomics study identifies unique set of proteins that …
News Release
National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care.
… of the disorders and the associated genomic variants. “Genomics has the potential to change reactive medicine into … tract, connective tissues, and the nervous system. Genomics has the potential to change reactive medicine into …
News Release
Genomicists and clinicians are beginning to offer patients genetic testing for a list of treatable diseases apart from the one that brought them into the clinic.
… In July 2013, the American College of Medical Genetics and Genomics issued a recommendation that people who have their … NHGRI.  Secondary findings are not unique to clinical genomics. People can also receive secondary findings from … said Leslie Biesecker, M.D., chief of the NHGRI’s Clinical Genomics Section. "Our research program measures how …
News Release
NIH-led study finds genetic markers that explain up to 12% of the differences between two people’s blood pressure.
Profile
Dr. Hanchard talks about his journey into genetics research, his collaborations with international researchers, and the importance of determination in science.
… Health Research and head of the Childhood Complex Disease Genomics Section within the Intramural Research Program of … research program that uses human genetics and genomics to understand conditions such as malnutrition, … collaborative international group that aims to study the genomics and environmental contributors of diseases in …
News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.