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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. Minear is a program director in NHGRI's Division of Genomic Medicine.
… Diverse populations (PRIMED) Consortium and co-leads the Clinical Genomics (ClinGen) Resource . She is interested in … the ethical and equitable translation of genomics into clinical practice and public health. Before joining the … results to participants. Dr. Minear received her Ph.D. in genetics and genomics, as well as completed postdoctoral …
Staff
Dr. Lanata is a staff clinician in NHGRI's Genomics of Autoimmune Rheumatic Disease Section.
… serves on the SLE Gene Curation Expert Panel for ClinGen, Clinical Genome Resource, whose purpose is to create an authoritative central resource that defines the clinical relevance of genes and variants for use in precision … Lanata CM , Blazer A, Criswell LA. The contribution of genetics and epigenetics to our understanding of health …
Staff
Dr. Dan Kastner is an NIH Distinguished Investigator in Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… 2021, and continues to maintain a busy lab in the Medical Genetics Branch. Throughout his career at the NIH Dan’s … by patients with relatively rare disorders seen at the NIH Clinical Center hospital. This work has provided detailed … a broad group of innate immune disorders. Based on other clinical encounters, the Kastner group and their NIAMS …
Staff
Dr. James Inglese is an adjunct investigator in NHGRI's Metabolic Medicine Branch.
… Screening Technology laboratory within the Division of Pre-Clinical Innovation at NCATS. His postdoctoral training … inherited syndromes. Using information from molecular genetics Dr. Inglese's laboratory creates assays for the …
Staff
Dr. Charles Rotimi is the scientific director of and NIH Distinguished Investigator in the Division of Intramural Research. He also serves as the director of the Center for Research on Genomics and Global Health (CRGGH).
… Committee for the International Federation of Human Genetics Societies and was elected to the Human Genome … board of Public Health Genomics, Genome Medicine, Clinical Genetics and Journal of Applied and Translational … insights into how pharmacogenomic knowledge is used in clinical decision-making and how race is used by physicians …
Staff
Dr. Chris Gunter is a senior advisor to the NHGRI director on genomics engagement.
… Gunter, Ph.D. … Dr. Chris Gunter earned her Ph.D. in human genetics at Emory University in 1998, studying fragile X … [ PubMed ] Gunter C, Solomon BD. Whither social media and clinical genetics? American Journal of Medical Genetics Part … differentially affect males and females with autism. Clinical Neuropsychology . 2021. [ PubMed ] Kovacs Balint Z, …
Staff
Dr. Simona Volpi is the deputy director of the Division of Genomic Medicine at the National Human Genome Research Institute.
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… pharmacogenomics, promoting access to genomic medicine and clinical evidence base for, and demonstrating effectiveness …
Staff
Dr. Julie Segre is chief and a senior investigator in the Translational and Functional Genomics Branch at the National Human Genome Research Institute.
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… with the NIH Intramural Sequencing Center and the clinical departments of Infection Control, Microbiology and … for a federal employee, for their work to establish the clinical utility of microbial genomics. … The Microbial … microbial diversity. MGS explores two major areas of clinical microbial genomics: foundational studies of the …
Staff
Dr. Rongling Li is an epidemiologist and program director in the Division of Genomic Medicine at the National Human Genome Research Institute.
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… the application of genetic and genomic knowledge to clinical practice in the past 10 years. Prior to joining the … and Genomics (eMERGE) Network: past, present, and future. Genetics in Medicine , 15:761. 2013. [ PubMed ] MD … records reveals a strong protective variant in APOE. Clinical and Translational Science , 5:394. 2012. [ PubMed ] …
Staff
Dr. Stone is a staff clinician in NHGRI's Inflammatory Disease Section.
… at the Children’s Hospital of Pittsburgh and fellowship in Clinical Genetics from the National Institutes of Health where she …