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News Release
Researchers have conducted the first study to look at the genomic underpinnings of obesity in continental Africans and African Americans.
… to search for regions of the genome that contain genomic variants associated with the condition. Most previous studies … such as zebrafish to identify the role of genomic variants in SEMA4D in obesity and obesity-related traits. … technology to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be …
Event
The Journeys in Human Genetics and Genomics Colloquium is part of a training partnership between ASHG and NHGRI to showcase the depth and breadth of exciting scientific, clinical, and societal elements of human genetics and genomics at an introductory level as well as to illustrate the myriad associated career opportunities.
Policy Issues
The GINA is an important U.S. civil rights law that protects individuals from discrimination based on their genetic information.
… The Genetic Information Nondiscrimination Act, commonly known as … protects individuals from discrimination based on their genetic information. It was first introduced into the U.S. Congress in the 1990s at a time when genetic testing and genetics research was taking off at …
The Genomics Landscape
In the September 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details the American Society of Human Genetics' (ASHG) new strategic plan, which aims to get people everywhere to realize the benefits of genomics and genetics research.
… an informed public. Establishing how best to advance genetic and genomic literacy is a major challenge. No one … review also discusses approaches to interpreting genomic variants, identifies resources for genomic test … summary data. In addition, All of Us recently funded a genetic counseling resource to help participants understand …
Genetic Disorders
Severe Combined Immunodeficiency is a severe, genetic condition of the immune system.
… Severe Combined Immunodeficiency is a severe, genetic condition of the immune system. … white blood cells of two young girls to compensate for the genetic mutation. These pioneering patients are still alive … deficiency SCID, commonly called ADA SCID, is a very rare genetic disorder. It is caused by a mutation in the gene that …
Event
The NHGRI Education and Community Involvement Branch is co-hosting a webinar on January 9 with the Undergraduate Genetics Education Network that will explore the changing landscape of genetics from a largely descriptive field and emerging creative fields.
… can your students expect to see as genetics and genetic engineering grow into a new variety of research and …
Event
On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.
…  No. Title P006 Evaluation and Application of a Genetic Risk Score for Uric Acid in Trans-Ancestry All of Us …
Educational Resources
Polymorphism involves one of two or more variants of a particular DNA sequence.
… Polymorphism involves one of two or more variants of a particular DNA sequence. … Polymorphism involves one of two or more variants of a particular DNA sequence. …
Genetic Disorders
Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging.
… Progeria is an extremely rare genetic disease of childhood characterized by dramatic, … Progeria is an extremely rare genetic disease of childhood characterized by dramatic, … disease. In accordance with this clinical observation, the genetic mutation appears in nearly all instances to occur in …
Genetic Disorders
Hereditary hemochromatosis is a genetic disease that alters the body's ability to regulate iron absorption.
… Hereditary hemochromatosis is a genetic disease that alters the body's ability to regulate … Hereditary hemochromatosis (HH) is a genetic disease that alters the body's ability to regulate … Hemochromatosis is one of the few genetic diseases for which there is a relatively simple and …