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- Ethical, Legal and Social Implications (ELSI) Research Program5
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
Professional Development
ASHG and the National Human Genome Research Institute (NHGRI) co-sponsor the Genetics Education and Engagement Fellowship to support early-career genetics professionals wishing to transition to careers in genetics education and public engagement.
… January 5, 2025 and consists of the following: Candidate information and contact information Educational history Candidate questions: … did you find out about the program?  CV or resume Contact information for three professional references … Strong …
News Release
As you celebrate Thanksgiving with your family this November, remember that this special day is also National Family Health History Day.
… not reached its potential. Why? Collecting and sharing the information is not easy or automatic. And, the information often is not stored in a consistent, accessible, … Family … Related Content … Happy Thanksgiving! Collect and act on your family health history … As you celebrate …
Research at NHGRI
The Medical Genetics Branch studies inherited disorders of metabolism and of human development.
… new diagnostic tests and treatments for patients with rare genetic disorders in the NIH Clinical Center. To achieve …
The Genomics Landscape
In the January 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly developed polygenic risk scores webpage, which provides graphical and textual information about polygenic risk scores, describes polygenic traits, introduces how polygenic risk scores can be calculated, and explains how such scores can be interpreted.
… to develop new and more powerful ways to assess people’s genetic risk for developing various diseases. One approach … risk score webpage , which provides graphical and textual information about polygenic risk scores and more! … interpreted. The use of polygenic risk scores (also called genetic scoring and genetic risk scoring) is becoming more …
News Release
NIH grants aim to gauge if genomics can be used to help diagnose diabetes, manage heart disease and guide cancer clinicians to the most effective drugs.
… the use of pharmacogenomics, which studies how a patient's genetic make-up affects drug responses. A third grant examines the role of genomic information in diagnosing and treating inherited forms of … use of genomic medicine. "We would like to know if adding genetic information makes a difference in doctor's …
15 Ways Genomics Influences Our World
Genomics is fostering an appreciation for what our DNA means for our health, identities and culture.
… many issues regarding the social context of genomics. Information about our genomes is starting to become part of … is for? Let's say that one of your parents learns from a genetic test that they have Huntington's disease , which is … for other reasons. … Concerns also exist about potential discrimination based on information about a person's DNA. In …
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… The Genetic Disease Research Branch studies the mechanisms by which genetic changes affect the structure and function of gene … identify and better understand pathways involved in human genetic diseases and normal development. Model systems, …
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke, and … their findings may provide new clues to underlying genetic and biochemical influences in the development of … we're seeing," he said. "We may have found how genetic information controls the regulation of GNMT." The group …
Policies and Guidance
Text, graphics, videos, illustrations and other information on NHGRI websites are in the public domain, unless indicated.
… Text, graphics, videos, illustrations and other information on National Human Genome Research Institute … indicated. You may freely use and distribute this information; however, we request acknowledgement, such as: … please be sure to cite the correct copyright owner. For information about these copyright owners, how they can be …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of … child becomes blind, cognitively impaired, paralyzed and non-responsive. By the time a child with Tay-Sachs is three … Medline Plus: Tay-Sachs Disease NINDS: Tay-Sachs Disease Information Page Genetics Home Reference: Tay-Sachs disease …