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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
News Release
Scientists are exploring the genomic and clinical profiles of people with RUNX1 familial platelet disorder.
… Scientists are exploring the genomic and clinical profiles of people with RUNX1 familial platelet … (NIH).  Thanks to her aunt, Emily found the NIH RUNX1-FPD clinical research study , which takes a detailed look at the clinical and genetic features of people who may have the rare …
News Release
NHGRI has selected Charles Rotimi, Ph.D., as the next scientific director. In this role, he will lead the institute’s Intramural Research Program, which conducts basic and clinical research to enable a greater understanding of human disease and to develop better methods to detect, prevent and treat genetic disorders.
… Intramural Research Program , which conducts basic and clinical research to enable a greater understanding of human … and genomics researcher with expertise in statistical genetics, computational science, biochemistry, health … Branch. He has designed and led major basic science and clinical research projects in human genomics. Dr. Rotimi is …
News Release
Researchers sequence the genomes of healthy participants, then analyze the data to find presumed, mutations that might lead to a genetic condition.
… M.D., chief of the Medical Genomics and Metabolic Genetics Branch (MGMGB) at the National Human Genome Research … Johnston, Ph.D., lead author and staff scientist with the Clinical Genetics Section of the MGMGB. The research is part … challenges facing individualized genome sequencing in a clinical research setting. Once they identified participants …
News Release
The Genetics/Genomics Competency Center now includes a new section on pharmacogenetics and pharmacogenomics.
… Jeannine Mjoseth … The Genetics/Genomics Competency Center (G2C2), a free, online … pharmacogenomics," said Jean Jenkins, R.N., Ph.D., NHGRI clinical advisor, Genomic Healthcare Branch. "The new … For example, the website PharmGKB and guidelines from the Clinical Pharmacogenetics Implementation Consortium (CPIC) …
Staff
Dr. Manfred Boehm is a an adjunct investigator for the Office of the Clinical Director at NHGRI.
… with biotechnology companies and has several active clinical protocols. … Kovacic JC, Gupta R, Lee AC, Ma M, Fang … Boehm is a an adjunct investigator for the Office of the Clinical Director at NHGRI. … Manfred Boehm, human vascular … Boehm is a an adjunct investigator for the Office of the Clinical Director at NHGRI. … Staff …
Staff
Katie Lewis is a genetic counselor in the NHGRI Genomic Services Research Program (GSRP).
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.
… Diseases Program (UDP) and the NHGRI Office of the Clinical Director. After completing his M.D. and Ph.D. (under … residency at the University of Maryland. He started a genetics residency at the NIH in 2004 and stayed on in the … Program at its founding in 2008, became deputy director of clinical genomics in the UDP and the NHGRI Office of the …
News Release
The Genetics/Genomics Competency Center (G2C2) resource has been expanded to include a new collection of resources for physicians.
… John Daniels … The Genetics/Genomics Competency Center (G2C2) - www.g-2-c-2.org … to bridge the gap," said Jean Jenkins, R.N., Ph.D., NHGRI clinical advisor, Genomic Healthcare Branch. "Genomic … Physicians' societies, including the American Society of Clinical Oncology, the American Academy of Pediatrics and the …
Research at NHGRI
The NHGRI Division of Intramural Research aims to advance the frontiers of genetics and genomics.
… of Intramural Research is to advance the frontiers of genetics and genomics. … We aim to be world leaders in the … projects because of our strengths in basic, clinical, social, and behavioral research. Achieving our … translating genetic and genomic discoveries into the clinical care arena. We study an array of disorders - rare as …
Clinical Research
An Observational Prospective Natural History Study of Metabolism, Infection and Immunity During the COVID19 Pandemic (At-home Participation).
… disease may be eligible to join.  We will use the clinical information, questionnaire responses and samples of … disease as controls or for other analyses related to genetics and infection. … People in this study will: Provide … During the COVID19 Pandemic (At-home Participation). … Clinical Research …