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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
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. …
Staff
Elaine Ostrander is chief of NHGRI's Cancer Genetics and Comparative Genomics Branch.
… and uniformity provides an exceptional opportunity for genetic dissection of biological processes, her lab has … lab is focused on three primary regions of canine genetic research: drivers of behavioral and morphological … infrastructure we developed for the dog to identify genetic and genomic inheritance patterns relevant to our …
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. …
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., …
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 …
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 …
Staff
Diana Bianchi is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
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… the fetal transcriptome to develop new therapies for genetic disorders that can be given prenatally. Dr. Bianchi … pathways that are affected by these different genetic, developmental and environmental conditions, and …