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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program2
- Enhancing Opportunities in Computational Genomics and Data Science1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
Staff
Dr. Daniel Shriner is a researcher in NHGRI's Center for Research on Genomics and Global Health.
… on Genomics and Global Health within the National Human Genome Research Institute, National Institutes of Health. … of methods for multivariable analysis of genome-wide association data as well as investigation into global …
Staff
Dr. Lucia Hindorff is the Lead Extramural Training Program Director in the Training, Diversity, and Health Equity Office at the National Human Genome Research Institute.
… and Health Equity (TiDHE) Office at the National Human Genome Research Institute (NHGRI). She previously served as … and the NHGRI scientific lead for the online NHGRI Genome-wide Association Study catalog. In her time at NHGRI, she has …
Staff
Dr. Francis Collins was a senior investigator in Center for Precision Health Research.
… genes and his leadership of the international Human Genome Project, which culminated in April 2003 with the … of affected sib pairs, and then moved on to perform genome-wide association studies (GWAS), and has subsequently become an …
Staff
Dr. Erin M. Ramos is the director of the Divison of Genome Sciences at the National Human Genome Research Institute.
… Dr. Erin Ramos is the Director of the Division of Genome Sciences at the National Human Genome Research … chaired the Data Access Committee (DAC) for the Genetic Association Information to provide access to some of the first genome-wide association studies in dbGaP, and currently serves on …
Staff
Dr. Randy Chandler is an associate investigator in the Organic Acid Research Section of the Metabolic Medicine Branch in NHGRI.
… Disease, Type C1. His preclinical proof-of-principal studies using MMA murine models have helped enable two … mRNA therapy and the other, AAV-mediated nuclease-free genome editing. In addition, he is a member of NCATS’s … gene therapy approaches, such as AAV gene delivery, genome editing, and mRNA therapy, to cure rare genetic …
Genetic Disorders
Velocardiofacial syndrome is the most common syndrome associated with a cleft palate.
… similar faces (elongated face, almond-shaped eyes, wide nose, small ears); eye problems; feeding problems that … that may only be found using more sophisticated lab studies such as comparative genomic hybridization, MLPA, additional FISH studies performed in a research laboratory or using specific …
Staff
Abdel Elkahloun is an associate investigator in NHGRI's Office of Scientific Core Facilities.
… and solid tumors and then joined the National Human Genome Research Institute (NHGRI) in 1993. At the NHGRI, Dr. … technology provider, the microarray core is involved in a wide range of projects looking at the characterizing of … Collins F, Dunston G, Rotimi CN. Evaluation of Genome Wide Association Study Associated Type 2 Diabetes Susceptibility …
Genetic Disorders
Antiphospholipid Syndrome is a disorder characterized by elevated levels of antibodies that are associated with clots in the arteries and veins.
… erythematosus (SLE) and other similar conditions. Later studies found a protein called the lupus anticoagulant in a … and certain autoimmune diseases have also been noted in association with APS. Pulmonary hypertension (high blood … of the uterus to its normal size). Thrombocytopenia An association with immune thrombocytopenia (low platelets) has …
Staff
Lisa Garrett is an associate investigator and director of the NHGRI Transgenic Mouse Core.
… Texas. Following completion of her undergraduate studies, she received technical training at the University of … models of cancer. At this time, she started her graduate studies at Hood College in Frederick and received her Masters … generating targeted insertions and other applications for studies in transgenic mice. … The NHGRI Embryonic Stem Cell …
Staff
Dr. Douglas Stewart is an associate investigator in NHGRI's Center for Precision Health Research.
… Dr. Stewart studies phenotypes and genetic determinants of familial … affected individuals. His research group established the association among a variety of novel NF1 phenotypes, … 1: genetic, functional and clinical evidence of a novel association. Cancer Research , 69 (18): 7393-7401. 2009. [ …