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- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program4
- Human Genome Reference Program (HGRP)1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Clinical Genome (ClinGen) Resource1
- 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
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
Health
Genomic medicine involves using genomic information as part of clinical care and the health outcomes and policy implications of that clinical use.
… 'personalized medicine' to reach the clinic. A 2011 report from the National Academy of Sciences has called for the … leading edge of incorporating genomics, as diagnostics for genetic and genomic markers are increasingly included in … that evidence to determine whether to incorporate the new test into clinical practice guidelines. This determination …
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.
… Many human diseases have a genetic component. Some of these conditions are under … Human Genome Research Institute (NHGRI). … This list of genetic, orphan and rare diseases is provided for … in whole or in part by a change in the DNA sequence away from the normal sequence. Genetic disorders can be caused by …
Professional Development Programs
The JHU/NIH Genetic Counseling Training Program addresses the growing need for genetic counseling services.
… August 21, 2024 Update: The NIH-funded Genetic Counseling Training Program is temporarily pausing … strategic planning and development. NHGRI wants to hear from you on the current needs and challenges associated with … to promote informed choices. When there is no genetic test or therapeutic option to offer, genetic counselors help …
Research at NHGRI
The Center for Precision Health Research, formerly Medical Genomics and Metabolic Genetics Branch, studies how health and disease are related to genetic, genomic and metabolic variation.
… The investigators in the Center for Precision Health Research (CPHR) develop and evaluate cutting edge … broad spectrum of disorders, with a range of heritability from common diseases associated with common genetic variants to rare diseases associated with rare …
Educational Resources
Genetic drift is a mechanism of evolution. It refers to random fluctuations in the frequencies of alleles from generation to generation due to chance events.
… Genetic Drift … Genetic drift is a mechanism of evolution. It refers to random fluctuations in the frequencies of alleles from generation to generation due to chance events. … Genetic … traits to become overwhelmingly frequent or to disappear from a population. … Genetic drift is a mechanism of …
For Patients and Families
List of resources to help you find accurate and reliable information on genetic and rare diseases.
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… Finding accurate and reliable information on genetic and rare diseases among the millions of online … … Information on just about any disease can be obtained from the published scientific literature. Medical and … A central location for voluntary submission of genetic test information by health care providers. MEDLINEplus …
Policy Issues
NHGRI wants to ensure that all populations benefit from the advances of genomics research.
… this research to benefit everyone more equally and improve health equity, it is important that the diversity of the … (NHGRI) wants to ensure that all populations benefit from the advances of genomics research, and have the … the ethical, legal and social implications resulting from genetics and genomics research. NHGRI is committed to …
News Release
A simple blood draw is replacing a giant needle to the belly for testing their fetuses for a range of genetic disorders.
… to the belly for testing their fetuses for a range of genetic disorders. This non-invasive blood test, combined with advances in genomic medicine, has many … Institute (NHGRI), part of the National Institutes of Health (NIH), published their findings in the December 6th …
Research Training
A fellowship that will prepare fellows to use genetic, genomic and pharmacogenomic approaches to advance minority health and health equity.
… A fellowship in genomic science and health equity, cosponsored by the National Institutes of … up to three years, is designed to prepare fellows to use genetic, genomic and pharmacogenomic approaches to advance … facilitate the delivery of drugs, biologics, and devices from bench to bedside. The fellow will gain unique …
Educational Resources
The Genetic Information Nondiscrimination Act (GINA) is federal legislation that makes it unlawful to discriminate against individuals on the basis of their genetic profiles in regard to health insurance and employment.
… Genetic Information Nondiscrimination Act (GINA) … The Genetic Information Nondiscrimination Act (GINA) is federal … on the basis of their genetic profiles in regard to health insurance and employment. … Genetic Information …