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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Enhancing Opportunities in Computational Genomics and Data Science1
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Advancing Genomic Medicine Research (AGMR)1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards2
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Health
Knowledge of your family health history can help you and your healthcare providers identify patterns of inheritance and risk factors.
For Health Professionals
The ISCC-PEG Project Groups have developed resources, presentations for national meetings, and published articles and abstracts.
… and his mother, Dai G3C 2023 Resource NHGRI ISCC-PEG and Genome.gov Genomics Education Resource Center (GenomeEd) … ISCC-PEG (all) 2023 Resource NHGRI ISCC-PEG and Genome.gov Healthcare Professionals' Genomics Education Week ISCC-PEG (all) 2023 Resource NHGRI ISCC-PEG and Genome.gov Genomics FAQ for Entry-Level Nurses Nursing …
Genetic Disorders
Methylmalonic acidemia is a group of inherited disorders in which the body is unable to process certain proteins and fats (lipids) properly.
… and cholesterol. Mutations in the MUT gene alter the structure or reduce the amount of the enzyme, which prevents … as "mut0". When mutations in the MUT gene change the structure of methylmalonyl CoA mutase but do not eliminate …
Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
Genetic Disorders
Holoprosencephaly is a disorder caused by the failure of the the embryonic forebrain to sufficiently divide into the double lobes of the cerebral hemispheres.
… cerebral hemispheres. The result is a single-lobed brain structure and severe skull and facial defects. In most cases …
Genetic Disorders
Velocardiofacial syndrome is the most common syndrome associated with a cleft palate.
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
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
Genetic Disorders
Autism is characterized by impaired social interactions, problems with verbal and nonverbal communication and repetitive behaviors.
Genetic Disorders
Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break easily, often from little or no apparent trauma.
… protein in bone, skin and other tissues that provide structure and strength to the body (connective tissues). OI …