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- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- 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. Benjamin Solomon is the Clinical Director in the Office of the Clinical Director at the National Human Genome Research Institute.
… emphasis on research and the discovery of novel causes of disease. In this role, which he held until returning to … which can be applied to broader areas of human health and disease. … Medical Genomics Unit Genetic conditions, though … abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries . Cell . 149(3):525-37. …
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.
… Us Research Program, and UK Biobank to better understand disease and drug response. Prior to joining the NIH in 2020, … of phenome‐wide association studies (PheWAS), phenotype risk scores (PheRS), work he is continuing here at NHGRI. He … Program. … Dr. Denny’s laboratory seeks to discover gene-disease relationships by gathering, assessing, and analyzing …
Staff
Cynthia Tifft, M.D., Ph.D. is the deputy clinical director for the National Human Genome Research Institute.
… variety of model systems to understand the pathogenesis of disease progression and explore therapeutic options. The … transplantation could double the lifespan of Sandhoff disease mice, not by decreasing the storage of GM2 … LSDs and more common disorders including Alzheimer’s disease. To further investigate the molecular pathogenesis …
Staff
Heather Colley is a Lead Research Training and Career Development Program Officer at the National Human Genome Research Institute.
Staff
Vence Bonham is the acting deputy director for NHGRI and an associate investigator in NHGRI's Social and Behavioral Research Branch.
… to genomics. The Bonham group also studies sickle cell disease, a condition impacted by emerging curative genomic … group also studies sickle cell trait and sickle cell disease, a condition that affects 100,000 people in the … Microbiome and Environmental Contributions to Sickle Cell Disease and Leg Ulcers Study (INSIGHTS), conducted at two …
Staff
Dr. Simona Volpi is the deputy director of the Division of Genomic Medicine at the National Human Genome Research Institute.
Staff
Dr. Manfred Boehm is a an adjunct investigator for the Office of the Clinical Director at NHGRI.
Staff
Dr. Grisel Lopez is a Board-certified neurologist and researcher in the Medical Genetics Branch of NHGRI.
… to focus on clinical research in the genetics of Parkinson disease. From 2006-2009, she was the lead clinician in charge of the NINDS Parkinson disease clinic under Dr. Mark Hallett, Chief Human Motor … an association between mutations in GBA1 and an increased risk of developing Parkinson disease. … Dr. Lopez’ research …
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.
… and hospital management, where he provided clinical assessments and medical care for adult diseases influenced by genetically influenced conditions to improve patient risk stratification and individualize treatments. Dr. Rowley …
Staff
Dr. Julie Segre is chief and a senior investigator in the Translational and Functional Genomics Branch at the National Human Genome Research Institute.
… the microbial diversity of human skin in both health and disease states, with a focus on eczema and other … fungi, viruses) which contribute to both health and disease. We study and understand health with the perspective … monitor evolution of antibiotic resistance and develop risk assessment strategies. … Johnson R, Deming C, Conlan S, …