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- Ethical, Legal and Social Implications (ELSI) Research Program7
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards2
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
Research Training
Three-year residency program in medical genetics that trains physicians to diagnose, manage and counsel patients with genetic disorders.
… The National Human Genome Research Institute (NHGRI) offers a three-year residency program in medical genetics that trains physicians to … in a more typical medical genetics program; emphasizes clinical research, one of the few programs to do so; and …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… The Clinical and Basic Investigations of Methylmalonic Acidemia … At the National Institutes of Health, we are interested in research. Although we are happy to provide advice for people … D.K., Nyhan W.L., Biesecker L.G., and Venditti C.P. Exome sequencing identifies ACSF3 as the cause of Combined Malonic …
News Release
NHGRI convened geneticists, biologists, clinicians, bioinformatics specialists and more to provide expert advice on the future of its Genome Sequencing Program.
… provide expert advice on the future of its flagship Genome Sequencing Program (GSP). … The two-day meeting, titled, … includes the Centers for Mendelian Genomics program, the Clinical Sequencing Exploratory Research (CSER) program and the Genome Sequencing …
Research Training
An opportunity for medical school graduates to complete a combined, five-year residency program in pediatrics and medical genetics.
… The Combined Pediatrics and Medical Genetics Residency Program is a remarkable opportunity for medical school … Combined residents gain broad experience in pediatrics, clinical and molecular genetics, metabolic diseases, and … perinatal medicine. In the 5th year, residents work on a research project of their choosing or focus on a clinical …
Research Funding
ClinGen will advance genomics in clinical care and improve our understanding of phenotypic and functional effects of genetic variants and their clinical value.
… Medical and research centers are increasingly sequencing patient exomes … information on only a few genomic variants is used in clinical practice. One factor that limits the clinical use of …
Research Funding
NHGRI's programs and projects support research in one of six domains to advance the field of genomics and improve human health.
… NHGRI's programs and projects support research in one of six domains to advance the field of genomics and improve human health. … $1000 Genome Program Genetic Association Information Network (GAIN) … (IGNITE) Knockout Mouse Program (KOMP) Large-Scale Genome Sequencing and Analysis Centers (LSAC) Model Organism …
Research Training
Competitive scholarships for students from disadvantaged backgrounds to support careers in biomedical, behavioral and social science health-related research.
… Institutes of Health (NIH) Undergraduate Scholarship Program (UGSP) offers competitive scholarships to students … biomedical, behavioral, and social science health-related research. … The UGSP offers scholarship support, paid research training during the summer, and paid employment and …
Clinical Research
A study for patients with unexpected genetic results
… testing done for some other reason. … The Genomic Services Research Program (GSRP) is a study of people with "secondary results” … discover other treatable health conditions … The NIH Clinical Center is located in Bethesda, MD (near Washington, …
Professional Development Programs
The JHU/NHGRI Genetic Counseling Training Program prepares students for a M.S in Genetic Counseling from Johns Hopkins Bloomberg School of Public Health.
… The JHU/NIH Genetic Counseling Training Program prepares students for a Master of Science degree … a minimum of six hundred contact hours of supervised clinical rotations in a variety of settings, and completion of an original research thesis. The program qualifies graduates to attain …
Policy Issues
Clinical research may yield new health-related information about volunteers who have chosen to participate in the studies.
… When conducting clinical research studies, scientists may discover new … As genomic technologies have advanced and the cost of sequencing has decreased , it has become feasible to produce … consortium were incorporated into the Clinical Sequencing Exploratory Research ( CSER) consortium Among other aspects …