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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
For Patients and Families
​Clinical research is research conducted with human subjects, or material of human origin, in which the researcher directly interacts with human subjects.
… Clinical research is research conducted with human subjects, … the researcher directly interacts with human subjects. Clinical researchers at the National Human Genome Research … mechanisms of inherited and acquired genetic disorders. … Clinical research is research conducted with human subjects, …
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.
… information on only a few genomic variants is used in clinical practice. One factor that limits the clinical use of variant information is the lack of openly … patients, healthcare systems, scientific experts and genetics professionals. … The following groups are receiving …
News Release
Clinical geneticist to lead NHGRI’s clinical genomics research efforts
… Sarah A. Bates, M.S. … Clinical geneticist to lead NHGRI’s clinical genomics research efforts … The National Human … Fellowship Executive Committee, which oversees the medical genetics training program. “Ben brings valuable experiences …
News Release
Dr. William Gahl, NHGRI Clinical Director, gave the Samuel Pruzansky Memorial Lecture on March 23 for the March of Dimes Clinical Genetics Conference.
… Judith Wyatt … Dr. William Gahl, clinical director at the National Human Genome Research … Lecture on March 23 in Phoenix for the March of Dimes Clinical Genetics Conference, he wanted to inspire. "As geneticists, …
News Release
Healthcare professionals now have access to a range of educational and clinical genomics resources on the Genetics/Genomics Competency Center website
… now have access to a variety of educational and clinical genomics resources thanks to a new partnership … medical societies. The resources are available on the Genetics/Genomics Competency Center (G2C2) website, a free, … Society of Genetic Counselors , the American College of Clinical Pharmacy , and The Jackson Laboratory are the first …
Research Funding
​CSER is rapidly advancing the knowledge necessary to develop best practices for implementating genomic sequence data into clinical care. ​
… becomes routine. Evidence regarding the most promising clinical applications and the specific diseases or individual … Incorporation of comprehensive genomic sequence data into clinical care will require changes to institutional policies, … professional medical organizations outside of medical genetics as well as with payers and policymakers, to ensure …
Research Funding
The IGNITE PTN supports a network of multi-site clinical groups involving diverse settings and populations to conduct two pragmatic clinical trials of genomic medicine interventions.
… develop methods for incorporating genomic information into clinical care and explore the methods for effective … implementation, diffusion, and sustainability in diverse clinical settings. The first phase of the network, IGNITE I … an individual patient's genomic findings into his or her clinical care. Building on the successful genomic medicine …
For Patients and Families
Genetic professionals provide information and support to individuals or families who have genetic disorders or may be at risk for inherited conditions.
… disorders or may be at risk for inherited conditions. … Genetics professionals are health care professionals with specialized degrees and experience in medical genetics and counseling. Genetics professionals include geneticists, genetic …
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
Health
Genomic medicine involves using genomic information as part of clinical care and the health outcomes and policy implications of that clinical use.
… genomic information about an individual as part of their clinical care (e.g. for diagnostic or therapeutic … and the health outcomes and policy implications of that clinical use. Already, genomic medicine is making an impact … use.​ ​ … Genomic Medicine, Genomics In The Clinic, Genetics, Genetic Testing, Newborn Screening, Privacy In …