Search Results
Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
… Wilson disease is a rare genetic condition that causes a person's body to store too … damage that may cause death. … Wilson disease is a rare genetic condition that affects about one in 30,000 people. … disease. Copper content of the liver is also measured. Genetic testing is frequently used to help diagnose Wilson …
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
On November 16-17, 2023, the National Human Genome Institute will co-sponsor a workshop, Advances in the Genetic Architecture of Complex Human Traits, to take a historically grounded and forward-looking approach towards dissecting the genetic architecture of complex traits in humans.
… and dynamic processes in general that may mediate genetic effects on traits?  Advances in sequencing … or theoretically, for scalable approaches to map genetic effects on higher-order compositions of cells: … theory inform our understanding of how and why the genetic architecture of molecular level traits differ from …
Educational Resources
Polymorphism involves one of two or more variants of a particular DNA sequence.
… Polymorphism … Polymorphism involves one of two or more variants of a particular DNA sequence. … Base Pair, … of DNA. … Polymorphism involves one of two or more variants of a particular DNA sequence. … Educational Resources …
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 …
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.
Talking Glossary
Cell-free DNA testing is a laboratory method that involves analyzing free (i.e., non-cellular) DNA contained within a biological sample, most often to look for genomic variants associated with a hereditary or genetic disorder.
… within a biological sample, most often to look for genomic variants associated with a hereditary or genetic disorder. … Cell-free DNA testing is a laboratory … look for genomic variants associated with a hereditary or genetic disorder. For example, prenatal cell-free DNA testing …
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 …
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 …
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 …