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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
When it comes to Attention-Deficit/Hyperactivity Disorder (ADHD), genetics do make an impact.
… little significance alone, but together they increase the genetic risk for certain symptoms of the disorder. The more ADHD related genetic variations a person has, the more likely they are to … in isolation. Adding them all up can provide you with a 'genetic risk score' (called the polygenic risk score) that …
Clinical Research
The goal of this study is to learn more about the genetic contributions to the severity of disease of COVID-19.
… . This study aims to learn more about the genetic contributions to the severity of COVID-19. We hope to … Study … The goal of this study is to learn more about the genetic contributions to the severity of disease of COVID-19. … … The goal of this study is to learn more about the genetic contributions to the severity of disease of COVID-19. …
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 …
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., …
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. Introne is a pediatrician, clinical and biochemical geneticist in the Medical Genetics Branch in NHGRI.
… and inflammatory bowel disease. CHS is also an ultrarare genetic disorder, with an unappreciated spectrum. While the …
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 …