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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Staff
Dr. Laura Koehly is the chief of and senior investigator in the Social and Behavioral Research Branch at the National Human Genome Research Institute.​
… advance the translation of genomic discoveries into clinical and public health settings, the role of the family … Other goals in the Koehly group are to understand how genetics/genomics, biology and social relationships … and behavioral genomics research . Frontiers in Genetics . 2022; 13: 3435. Lin J, Shaw P, Curtis B, Unger L, …
Staff
Vence Bonham is the acting deputy director for NHGRI and an associate investigator in NHGRI's Social and Behavioral Research Branch.
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… of new genomic knowledge and precision medicine into clinical settings. His research focuses primarily on the … new genomic knowledge and precision medicine into clinical settings. His research program utilizes a variety of … Psychol , 60:9-15. 2005. [ PubMed ] Race, Ethnicity, and Genetics Working Group. The Use of Racial, Ethnic, and …
Staff
Dr. Shawn Burgess is the co-deputy director of NHGRI's Intramural Research Program.
… Dr. Burgess received his Ph.D. in genetics from the Johns Hopkins University School of Medicine, where he studied the genetics of mitochondrial fusion and fission in yeast. He …
Staff
Dr. Robb Rowley is an Internal Medicine Physician and a program director for the National Human Genome Research Institute (NHGRI) Electronic Medical Records and Genomics (eMERGE) Network.
… practice and hospital management, where he provided clinical assessments and medical care for adult diseases … managing multiple U.S. Food and Drug Administration (FDA) clinical trials, along with presenting original research at …
Staff
Dr. Sara Chandros Hull is a co-deputy scientific director in the Office of the Scientific Director and the director of NHGRI's Bioethics Core.
… her undergraduate degree in molecular cell biology and genetics from Brandeis University and earned a PhD from the … of multisite research, diversifying genomic research and clinical/diagnostic tools, and developing collaborative … Human Genome Research Institute (NHGRI) and the NIH Clinical Center's Department of Bioethics. The Section on the …
Staff
Dr. Joshua Denny is the head of the NHGRI Precision Health Informatics Section and Chief Executive Officer of the National Institutes of Health’s All of Us Research Program.
… of Medical Informatics, and the American Society for Clinical Investigation. He currently serves as the Chief … of electronic health record (EHR)-based phenotyping. Clinical concepts in EHRs are in both structured and … such as the eMERGE (Electronic Medical Records and Genetics) Network, BioVU, UK Biobank, Million Veteran Program …
Staff
Dr. Rossignol is a staff clinician in the Undiagnosed Diseases Program under Dr. William Gahl.
… (2009-2013). He completed his residency in Medical Genetics and Genomics from the Université de Montréal … fellowship in Medical Biochemical Genetics (2018-2019) and Clinical Biochemical Genetics (2019-2020), from the National … inherited metabolic disorders: their natural history and clinical trials. He is a principal investigator for the GNE …
Staff
Dr. Charles Venditti is a chief and senior investigator of NHGRI's Metabolic Medicine Branch.
… Hospital/Harvard Medical School (1996-1999) and a combined clinical and biochemical genetics fellowship (1999-2003) at the Children's Hospital of … (2008-current). He is board-certified in pediatrics, clinical genetics and biochemical genetics and is an …
Staff
Sheethal Jose is a program director in NHGRI's Division of Genomics and Society.
… acceptability of using host genomic information in the clinical care and public health control of COVID-19; and … The Ethics of Using COVID-19 Host Genomic Information for Clinical and Public Health Decision-making during the Pandemic: A Survey of US Health Professionals . Human Genetics and Genomics Advances . 2023; 5(1), 100255. Linder …
Staff
Dr. Galarreta is a board-certified pediatrician and biochemical geneticist in NHGRI's Metabolic Medicine Branch.
… of California in San Diego to complete her medical genetics and genomics fellowship training. She subsequently … stressors. Currently, her primary focus is on conducting clinical research studies in organic acidemias in Dr. … in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of care . Am J Hum Genet …