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- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
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- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
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 … summary data. In addition, All of Us recently funded a genetic counseling resource to help participants understand … Research Program Recap Progress and Next Steps NIH Funds Genetic Counseling Resource Ahead of Million-Person …
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 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 …
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 …
15 Ways Genomics Influences Our World
Genomics is ending diagnostic odysseys for patients with rare diseases.
… diagnosed. About 80 percent of these rare disorders are genetic in origin, and 95 percent of them do not have even … efforts sometimes shrink the path for establishing the genetic basis for a rare condition from decades (and … over time. They obtained testing for a number of known genetic conditions , but Bertrand did not have any of them. …
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, premature aging. … 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 … iron absorption. … Hereditary hemochromatosis (HH) is a genetic disease that alters the body's ability to regulate … or alcoholism. … Hemochromatosis is one of the few genetic diseases for which there is a relatively simple and …
Educational Resources
In genomic imprinting the ability of a gene to be expressed depends upon the sex of the parent who passed on the gene.
… Genetic Imprinting … In genomic imprinting the ability of a … upon the sex of the parent who passed on the gene. … Genetic Imprinting, DNA Sequence, Genes, Family Health …
The Genomics Landscape
NHGRI medical genetics training programs provide an array of education opportunities
… in which NHGRI is centrally involved, such as the Genetic Counseling Training Program that is collaboratively … physicians to diagnose, manage, and counsel patients with genetic disorders. The program exposes its trainees to genetic conditions that range from common to ultra-rare, …
Educational Resources
A family history is a record of medical information about an individual and their biological family.
… and their biological family. … Family Health History, Genetic Disorders, Ancestry, Healthcare, Genealogy … A family history, as … can help determine whether someone has an increased genetic risk of having or developing certain diseases, …