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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. Raman Sood is an associate investigator in the Translational and Functional Genomics Branch and director of the Zebrafish Core at the National Human Genome Research Institute.
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… genes to understand their role in normal development and disease processes by applying cutting-edge molecular biology … the genetic regulation of normal development and disease pathophysiology. Zebrafish as a vertebrate model … human diseases. Therefore, when a candidate gene for a disease or biological process is identified through the …
Staff
Dr. Ayo Doumatey is a Research Fellow and Laboratory Manager at NHGRI's Center for Research on Genomics and Global Health.
… The genomic landscape of African populations in health and disease. Hum Mol Genet. 2017 Oct 1;26(R2): R225-R236. doi: … with Metabolic Syndrome: Implications for Cardiovascular Disease Prevention. CVD Prev Control. 2010 Sep 1; 5(3):75-80. … et al. A variant in CDKAL1 influences insulin response and risk of type 2 diabetes. Nat Genet. 2007 Jun; 39(6):770-5. …
Staff
Jyoti Dayal is a program officer in the Division of Genomic Medicine, National Human Genome Research Institute (NHGRI)
Staff
Dr. Wilson is the co-chief of and senior investigator in NHGRI's Computational and Statistical Genomics Branch.
… traits (e.g., traits related to cardiovascular disease and scoliosis), the coding and non-coding elements … (e.g., traits related to hypertension and cardiovascular disease, depression and alcoholism, familial idiopathic … gene MEFV and the toll-like receptor 4 gene TLR4 in Behcet disease. Proc Natl Acad Sci USA, 110(20):8134-8139. 2013. [ …
Staff
Dr. David Adams is a senior clinician in the Office of the Clinical Director, NHGRI, and co-director of the Undiagnosed Diseases Program at NIH. He serves as deputy director of clinical genomics in both.
Staff
Dr. Daniel Shriner is a researcher in NHGRI's Center for Research on Genomics and Global Health.
… as well as mapping genetic variants that influence the risk of developing Alzheimer or Parkinson disease, the two most common neurodegenerative diseases. … Ramos, E., Chen, G., and Rotimi, C. N. 2011. Mapping of disease-associated variants in admixed populations. Genome …
Staff
Dr. Daniel Gilchrist is a program director of Computational Genomics and Data Science in NHGRI's Division of Genome Science.
… computational biology, functional DNA elements, disease-linked genomic variants … Daniel Gilchrist, … computational biology, functional DNA elements, disease-linked genomic variants … Dr. Daniel Gilchrist is a …
Staff
Dr. Shawn Burgess is the co-deputy director of NHGRI's Intramural Research Program.
… knock out genes that are predicted to cause rare genetic disease. Dr. Burgess is now merging large-scale mutagenesis … mutation, Undiagnosed Diseases Network, animal models of disease … Dr. Shawn Burgess is the co-deputy director of …
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).
… into the role of culture, lifestyle and genomics in disease etiology, health disparities and variable drug … Chief of the Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch in 2014 and stepped down in 2021. … in the distribution of genetic and environmental risk factors, with particular emphasis on populations of …
Staff
Dr. Francis Collins was a senior investigator in Center for Precision Health Research.
… physician-geneticist noted for his landmark discoveries of disease genes and his leadership of the international Human … for cystic fibrosis, neurofibromatosis, Huntington's disease, a familial endocrine cancer syndrome, and most … cell-specific gene regulation and harbor human disease risk variants . Proc Natl Acad Sci U S A. …