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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 at NHGRI
NHGRI center focused on computationally intensive approaches to analyze large-scale genomic data and identifying genetic contributions to human disease.
… intensive approaches to analyze large-scale genetic and genomic data, with a particular focus on identifying genetic contributions to human disease. … Genomics is, … biomolecular processes, animal development, fertility, ancestry, infectious disease, agriculture, bioconservation, …
Staff
Dr. Guanjie Chen is a senior research fellow with the NHGRI's Center for Research on Genomics and Global Health.
… and an assistant professor (2002-2008) in the Division of Genetic Epidemiology, Department of Community Medicine, … Health as a senior research fellow. His interests include genetic epidemiology, genetic statistics, and statistical … AP, Chen G, et al. Variation in APOL1 Contributes to Ancestry Level Differences in HDLc-Kidney Function …
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
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 … people, but is more common in people of Ashkenazi Jewish ancestry. There are three types of the disease: Type 1 causes … alterations that cause Gaucher disease were an important genetic risk factor for developing the more common disorder …
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 …
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 …
Staff
Dr. Amanda Ombrello is a clinical researcher in the Inflammatory Disease Section of NHGRI's Medical Genetics Branch.
Research at NHGRI
The NHGRI Office of the Clinical Director supports world-class clinical research and enhances the education of genetics investigators at all levels.
… approaches and improved medical management strategies for genetic disorders. At the heart of the OCD mission is the … finding new and better ways to help patients affected by genetic disorders. … To achieve its goals, the OCD focuses on … training programs in Medical Genetics and Genomics and Genetic Counseling.  To promote a spirit of collegiality and …