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Educational Resources
Restriction fragment length polymorphism (RFLP) is a type of polymorphism that results from variation in the DNA sequence recognized by restriction enzymes.
… (RFLP) is a type of polymorphism that results from variation in the DNA sequence recognized by restriction … enzymes. … Deoxyribonucleic Acid (DNA), Electrophoresis, Genetic Marker, Polymorphism, Restriction Enzyme … … the DNA with a restriction enzyme. RFLPs can be used as genetic markers, which are often used to follow the …
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 …
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 … describing the major technologies to measure genomic variation that are currently of clinical value; the review … summary data. In addition, All of Us recently funded a genetic counseling resource to help participants understand …
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
NHGRI is hosting a workshop - Identifying Research Priorities to Accelerate genetic Diagnosis - on April 16-17, 2024.
… much work remains to advance our understanding of the genetic cause of Mendelian conditions and to increase the … Drive … Identifying Research Priorities to Accelerate Genetic Diagnosis … NHGRI is hosting a workshop - Identifying Research Priorities to Accelerate genetic Diagnosis - on April 16-17, 2024. … NHGRI is hosting …
Jobs at NHGRI
NHGRI is seeking exceptional candidates for the position of Genetic Epidemiologist in the Division of Genomic Medicine (DGM). The division focuses on understanding how genomics contributes to human health and disease and how this knowledge can translate into improving the diagnosis, treatment, and prevention of disease.
… is seeking exceptional candidates for the position of Genetic Epidemiologist, Division of Genomic Medicine (DGM). … and facilitating multi-disciplinary research to identify genetic contributions to human health and disease and use … and prevention through research and training grants. The Genetic Epidemiologist will provide scientific expertise in …
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 …
Summit
This Summit is a 5-year initiative (2016-2020) designed to help developing nations build and expand their knowledge base, infrastructure, systems, research efforts and technologies in human genetics and genomics.
… countries address their public health challenges in genetic diseases. This will ultimately help build healthier … medicine worldwide, as it provided new insights into the genetic contributions to disease. Many scientists and … conditions on the world’s most vulnerable populations. … Genetic disorders, both monogenic and polygenic, contribute …
Educational Resources
Homologous recombination is a type of genetic recombination that occurs during meiosis (the formation of egg and sperm cells).
… Recombination … Homologous recombination is a type of genetic recombination that occurs during meiosis (the … of egg and sperm cells). … Homologous Recombination, Genetic Recombination, Genetic Variation, Chromosomes … Homologous recombination is a type …
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. … Severe Combined … 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 …