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- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Educational Resources
Cancer is a group of diseases characterized by uncontrolled cell growth.
… Metastasis, Tumor, Family Health History … Cancer is a disease in which some of the body’s cells grow … in cancer genes are inherited, which increases a person’s risk of developing cancer. … Cancer is a group of diseases …
Educational Resources
Progeria is a rare disease characterized by accelerated aging.
… Progeria … Progeria is a rare disease characterized by accelerated aging. … Birth Defect, … Nuclear Membrane, Nucleus, Protein … Progeria is a rare disease characterized by accelerated aging. The classic form … premature aging. Affected persons commonly die from heart disease during late childhood. … Progeria is a rare disease …
Fact Sheet
Genomic variation accounts for some of the differences among people, including important aspects of their health and susceptibility to diseases.
… subset of genomic variants contributes to human health and disease.  Researchers create reference human genome … SNVs but can sometimes have a larger impact on health and disease (e.g., by disrupting the function of a gene that … where a genomic variant might contribute to the overall risk that a person might have of the condition). Healthcare …
Educational Resources
Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease.
… test to look for genetic variations associated with a disease. … Genetic Variation, Genetic Testing, Genetic … can be used to confirm or rule out a suspected genetic disease. Results may also be used to determine the likelihood … test to look for genetic variations associated with a disease. … Educational Resources …
The Genomics Landscape
In the April 2021 issue of the Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D. talks about the NIH UNITE program's goal to end structural racism in biomedical research.
… of both genomic and non-genomic contributors to health and disease — routinely considering the importance of social and … genomic conditions can provide insights into more complex disease processes, where the causes are often a truly … a 22-item framework that identifies the minimal polygenic risk score-related information researchers should include in …
Educational Resources
Genetic discrimination is prejudice directed against people who have or may have a genetic disease.
… directed against people who have or may have a genetic disease. … Genetic Discrimination, GINA, Genetic Information … on an aspect of their genetic code or genome, such as the risk for genetic disorder. Genetic discrimination can involve … directed against people who have or may have a genetic disease. … Educational Resources …
Fact Sheet
A variety of approaches target the blood stem cells to relieve or reduce your symptoms of sickle cell disease.
… differ and other treatment options for sickle cell disease, such as bone marrow transplant.  Each of these … treatment approaches aim to modify the severity of the disease. Learn more about your red blood cells to help you … blood stem cells to reduce your symptoms of sickle cell disease.  Gene therapies use your own stem cells, while bone …
Educational Resources
A genome-wide association study (GWAS) is an approach used in genetics research to associate specific genetic variations with particular diseases.
… genomic variants that are statistically associated with a risk for a disease or a particular trait. The method involves surveying … that occur more frequently in those with a specific disease or trait compared to those without the disease or …
Educational Resources
Positional cloning is a laboratory technique used to locate the position of a disease-associated gene along the chromosome.
… is a laboratory technique used to locate the position of a disease-associated gene along the chromosome. … Candidate, … is a laboratory approach used to locate the position of a disease-associated gene on a chromosome. Such a strategy can … known about the role of the gene’s encoded protein in the disease. The technique typically relies on the use of known …
15 Ways Genomics Influences Our World
Advances in genomics are helping you access information about your genome from your home.