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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
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 …
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 …
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. Amanda Ombrello is a clinical researcher in the Inflammatory Disease Section of NHGRI's Medical Genetics Branch.
Staff
Dr. Klein is an Adjunct Investigator in NHGRI’s Center for Precision Health Research, where he collaborates on several projects involving genetic risk communication
… where he collaborates on several projects involving genetic risk communication. His main appointment is as … psychological functioning. In recent work, he has studied genetic testing decisions. Dr. Klein's work has appeared in … member of the Executive Committee of the joint NIH/Hopkins Genetic Counseling graduate program, where he teaches a …
Staff
Renee Rider is a genetic counselor and a Program Director for the National Human Genome Research Institute (NHGRI) Implementing Genomics in Practice Pragmatic Trials Network (IGNITE PTN).
… Renee Rider, M.S., J.D., LCGC … Renee Rider is a genetic counselor and a Program Director for the National … Center and the Veterans’ Administration. She provided genetic counseling for adult diseases in a wide variety of … was a part of growing the VA’s robust, national telehealth genetic counseling consult service. Her research interests …
Staff
Dr. Ayo Doumatey is a Research Fellow and Laboratory Manager at NHGRI's Center for Research on Genomics and Global Health.
… from Howard University. She has conducted research on genetic epidemiology of metabolic disorders especially … and obesity-related traits in populations of African ancestry. One of her research interests is to understand the … 6. doi: 10.1002/art.40541 Pattaro C…, Doumatey A, et al. Genetic associations at 53 loci highlight cell types and …