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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
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 …
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 …
Staff
Dr. Grisel Lopez is a Board-certified neurologist and researcher in the Medical Genetics Branch of NHGRI.
… perceptions, and communication in a family with multiple genetic risks for Parkinson’s disease . J Genet Couns . 2023 …
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 …
News Release
NHGRI researchers have generated the largest catalog of genetic variants associated with physical traits for domesticated dog breeds.
… Institute (NHGRI) have generated the largest catalog of genetic variants associated with physical traits for … dogs arises from a few "founder" dogs, therefore reducing genetic variation within each breed. This fact may make it … genome … Researchers have generated the largest catalog of genetic variants associated with physical traits for …
News Release
NIH researchers and collaborators have found that that sickle cell trait is prevalent among diverse human populations.
… and blood clots have only included individuals of African genetic ancestry and self-identified Black participants because of the incorrect assumption that the genetic carrier state only affects those who identify as … analyses, participants were grouped based on their genetic similarities into genetic ancestry groups. The study …
News Release
A genetic mutation that triggers bladder cancer in dogs is identical to a mutation that is implicated in multiple human cancers.
… powerful animal model for research into human cancer. … A genetic mutation that triggers bladder cancer in dogs is … mutation occurs and whether there is an environmental or genetic cause," Dr. Parker said. Many human and canine … out new cancer detection and treatment strategies … A genetic mutation that triggers bladder cancer in dogs is …
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 …
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 … locations that together explain a much larger part of the genetic differences in people’s blood pressure. Knowing a …