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- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- 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
Research Funding
Fosters basic and applied research on the ethical, legal and social implications of genetic and genomic research. ​
… the generation, interpretation, understanding and use of genetic and genomic information and associated technologies. … that arise in connection with the design and conduct of genetic and genomic research.  Genomic Healthcare These projects may examine issues that arise as genetic and genomic research are integrated into clinical …
News Release
Researchers with support from NIH will conduct research into the genetic underpinnings of Alzheimer's disease.
… National Institutes of Health to conduct research into the genetic underpinnings of Alzheimer's disease, analyzing how … effort is vital to advancing a deeper understanding of the genetic variants involved in this complex and devastating … M.D., Ph.D. The effort is critical to accomplishing the genetic research goals outlined in the National Plan to …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… in the family, the NIH group did not at first suspect a genetic cause, and treated the patient with immunosuppressive … by her sixth birthday-they began to suspect a common genetic cause and embarked on a medical odyssey that has led … onset suggested to us that the patients were born with a genetic condition," Dr. Kastner said. "We used a whole-exome …
Event
On November 5-9, 2024, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.  The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.Â
… Medical, Lay Language, and Self-Reported Descriptions of Genetic Conditions 1069T Brian N Lee Understanding ableism in abstracts for genetic and genomic autism research 6044T Dayo Shittu Genetic Predisposition Factors for Systemic Lupus …
Event
On November 1-5, 2023, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.  The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.Â
… Nicola Sugden Understanding ableism in abstracts for genetic and genomic autism research PB2437 Erin Mansell … study of neural tube defects allows an unbiased search for genetic contribution. PB2092 Ted Han Genome wide CRISPR … associated with canine body size. PB1092 Yixing Han Common Genetic Variants are Associated with Plasma and Skin …
Research at NHGRI
CRGGH facilitates understanding of the relationship between genetic variation and population differences in disease distribution to inform health disparities.
… a global understanding of the relationship between human genetic variation and population differences in disease … health disparities. Its investigators will develop genetic epidemiology models that will explore the patterns … to provide scientists access to these resources.  Develop genetic epidemiology and population genetics approaches that …
Research Funding
The PAGE Consortium investigates ancestrally diverse populations to gain a better understanding of how genetic factors influence susceptibility to disease.
… Genome-wide association studies have identified many genetic variants related to disease and have highlighted the … ). The first phase of PAGE examined putative causal genetic variants across approximately 100,000 African … ancestry individuals to better characterize how genetic factors influence susceptibility to disease. In …
Research Funding
ClinGen will advance genomics in clinical care and improve our understanding of phenotypic and functional effects of genetic variants and their clinical value.
… the lack of openly accessible knowledge bases that capture genetic variants, their phenotypic and functional effects and … in diverse populations as it relates to interpreting genetic test results. Lastly, ClinGen will disseminate the … education modules so that medical geneticists and genetic counselors can obtain continuing education credits …
Event
On October 25-29, 2022, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.
… Complex Traits Quantification of race, ethnicity, and genetic ancestry disparities in anti-hypertensive drug … Exhibit Hall 3:00 p.m. — 4:45 p.m. Mendelian Phenotypes Genetic analysis reveals that GNE Myopathy remains an … Center, South Exhibit Hall 3:00 p.m. — 4:45 p.m. Genetic Counseling, ELSI, Education, and Health Services …
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.
… obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease. Researchers from … alterations that cause Gaucher disease were an important genetic risk factor for developing the more common disorder … cell to 'empty the trash' that accumulated because of the genetic deficiency of the enzyme," said Ellen Sidransky, …