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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
News Release
NIH-led study finds genetic markers that explain up to 12% of the differences between two people’s blood pressure.
… NIH-led study finds genetic markers that explain up to 12% of the differences … locations that together explain a much larger part of the genetic differences in people’s blood pressure. Knowing a … the collected data was mostly from people of European ancestry (due to limited availability of diverse datasets …
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 …
Research at NHGRI
The Translational and Functional Genomics Branch explores the genetic, epigenetic and metagenomic basis of human disorders.
… and function contribute to health by exploring the genetic, epigenetic and metagenomic basis of human disorders. … microorganisms that live on humans and animal models of genetic disease. TFGB investigators catalyze technology … Translational and Functional Genomics Branch explores the genetic, epigenetic and metagenomic basis of human disorders. …
Profile
Dr. Hanchard talks about his journey into genetics research, his collaborations with international researchers, and the importance of determination in science.
… and different forms of malnutrition, teasing apart the genetic contributions of these conditions. He also has projects studying how genetic heterogeneity influences the variable response to … Hanchard studies are more common in individuals of African ancestry. In fact, diversity is at the core of his research …
Professional Development Programs
The National Institutes of Health (NIH) seeks qualified physicians, physician assistants, nurse practitioners, pharmacists, and genetic counselors interested in acquiring credentials and experience to lead genomic medicine research and implementation programs at the NIH, major medical centers, and other organizations.
… between fellows across clinical disciplines (PAs, NPs, genetic counselors) . In very simple words, you get to meet … working with researchers. I wanted to help improve genetic care and how we provide that care. What better place … physicians, physician assistants, nurse practitioners and genetic counselors interested in acquiring credentials and …
News Release
A simple blood draw is replacing a giant needle to the belly for testing their fetuses for a range of genetic disorders.
… to the belly for testing their fetuses for a range of genetic disorders. This non-invasive blood test, combined … journal Prenatal Diagnosis . "Because there are too few genetic counselors, OB/GYNs will be called on to communicate fetal genetic information to parents," said Benjamin Berkman, J.D., …
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 … efforts in the establishment of standards in the use of ancestry and diversity information in clinical genomics and …
Staff
William J. Pavan, Ph.D. is the chief of NHGRI's Genetic Disease Research Branch.
… a research program focused on using genomic tools and genetic manipulation of model systems to decipher genome … will be revealed through the application of advanced genetic and genomic approaches to the study of mouse genetic mutants that model human disease traits. The section …
Staff
Dr. Pamela Schwartzberg is a adjunct investigator in NHGRI's Genetic Disease Research Branch.
… in 2003. Her laboratory's work has centered on the use of genetic, biochemical and cellular studies to understand T … challenges, such as vaccination.   Studies of human genetic primary immunodeficiencies, as well as mutant mice … pathways in order to help both understand phenotypes of genetic diseases involving these pathways and to elucidate …
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 … efforts entirely on approximately 50,000 non-European ancestry individuals to better characterize how genetic …