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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program2
- Enhancing Opportunities in Computational Genomics and Data Science1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
Healthcare Provider Genomics Education Resource
Genomics plays a role in every area of nursing, whether nurses are at the bedside providing one-on-one care, treating entire populations, teaching the next generation of nurses, or making discoveries in the lab.
… that include multiple genes, or whole exome or whole genome sequences Chromosomal tests analyze entire chromosomes … See the Genetics Policy Hub website and our webpage on Genome Statute and Legislation Database for more … Indicators. 2nd ed. Silver Spring, MD: American Nurses Association; 2009. Greco KE, Tinley S, Seibert D. Essential …
Genetic Disorders
Marfan syndrome an inherited disorder of connective tissue occurring once in every 10,000 to 20,000 individuals.
… once in every 10,000 to 20,000 individuals. There is a wide variability in clinical symptoms in Marfan syndrome with …
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.
… Additional Resources for Wilson disease Wilson's Disease Association International National Digestive Diseases …
News Release
The Genetics/Genomics Competency Center now includes a new section on pharmacogenetics and pharmacogenomics.
… G2C2 was created in 2010 by the National Human Genome Research Institute (NHGRI), part of the National … uses information about a person's genetic makeup, or genome, to choose the drugs and drug doses that are likely to … work, called pharmacology, with the science of the human genome, called genomics. "As the health care professional …
For Patients and Families
The partnership engages communities on genomics, informs and shares perspectives, and impacts the focus of research.
… impact the focus of research. Guided by the National Human Genome Research Institute's (NHGRI) Education and Community … and national and international organizations. Your Genome & You  is an infographic that offers an introduction … impacts our lives. It was designed by the National Human Genome Research Institute's Partnership for Community …
Genetic Disorders
Cri du chat syndrome is a rare genetic condition that is caused by the deletion of genetic material on the the p arm of chromosome 5.
Genetic Disorders
Achondroplasia is a disorder of bone growth and the most common form of disproportionate short stature.
Genetic Disorders
Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging.
Genetic Disorders
Poland anomaly is an underdevelopment or absence of the chest muscle on one side of the body and webbing of the fingers of the hand on the same side.
Genetic Disorders
Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and weakness.
… Home Reference: Spinal Muscular Atrophy Muscular Dystrophy Association - USA NORD: Spinal Muscular Atrophy GARD: Spinal …