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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 Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards1
- 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
Genetic Disorders
Severe Combined Immunodeficiency is a severe, genetic condition of the immune system.
… three months of life have the highest success rate. NHGRI Clinical Research on SCID In 1990, National Institutes of … at NHGRI and around the world have continued to conduct clinical research with ADA SCID and additional genetic forms … Immunodeficiency (SCID) Immune Deficiency Foundation Genetics Home Reference: X-Linked Severe Combined …
Genetic Disorders
Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging.
… never affected by the disease. In accordance with this clinical observation, the genetic mutation appears in nearly … treatment of progeria, the discovery of the underlying genetics of this model of premature aging may help to shed … NIH Fact Sheet: Progeria Medline Plus: Progeria Genetics Home Reference: Hutchinson-Gilford progeria syndrome …
Genetic Disorders
Hereditary hemochromatosis is a genetic disease that alters the body's ability to regulate iron absorption.
… Resources for Hereditary Hemochromatosis Information Genetics Home Reference: Hemochromatosis Hemochromatosis.org …
Genetic Disorders
Trimethylaminuria is a metabolic condition in which an individual is not able to convert trimethylamine into a compound called trimethylamine N-oxide.
… it is recommended that you work with a medical or genetics professional to contact the laboratories for further … The laboratories listed below recently began performing clinical diagnostic testing for elevated levels of … The GeneTests Web site lists one laboratory as performing clinical diagnostic testing. This laboratory is located in …
Genetic Disorders
Factor V Leiden thrombophilia is an inherited disorder of blood clotting.
… developing abnormal blood clots. Information courtesy of: Genetics Home Reference … The symptoms of factor V Leiden … of individuals with factor V Leiden depends on the clinical circumstances. People with factor V Leiden who have … 12. Additional Resources for Factor V Leiden Thrombophilia Genetics Home Reference: Factor V Leiden Thrombophilia …
News Release
The U.S. National Institutes of Health (NIH) has long invested in basic genetics and genomics research, clinical trials, as well as translational medicine and social science studies, to advance our understanding of this widespread illness to help develop effective therapies.
… Institutes of Health (NIH) has long invested in basic genetics and genomics research, clinical trials, as well as translational medicine and social … promising genetic-based curative therapies safely into clinical trials.  NIH is working closely with the Centers …
Genetic Disorders
Attention Deficit Hyperactivity Disorder (ADHD) is a neurological disorder that affects a person's ability to control their behavior and pay attention to tasks.
Genetic Disorders
Duchenne muscular dystrophy is a rapidly progressive form of muscular dystrophy caused by a mutation in the DMD gene.
… muscular dystrophy is diagnosed in several ways. A clinical diagnosis may be made when a boy has progressive … for sure. For the remaining individuals, a combination of clinical findings, family history, blood creatine kinase … Medline Plus Duchenne and Becker muscular dystrophy Genetics HOME Reference The National Organization for Rare …
Genetic Disorders
Breast cancer is the second most common cancer in women after skin cancer.
… for the BRCA1 or BRCA2 gene, surveillance (mammography and clinical breast exams) can help detect the disease at an … breast cancer by almost 50 percent in women at high risk. Clinical trials are now under way to determine whether …
Genetic Disorders
Familial Mediterranean Fever is an inherited disease, characterized by recurrent attacks of fever, inflammation, painful, swollen joints, and ankle rash.
… factors into account: Whether or not the patient has the clinical symptoms common for the disease and whether the … Familial Mediterranean Fever National Library of Medicine Genetics Home Reference Familial Mediterranean Fever from … Fever, Familial MUMS National Parent-to-Parent Network Genetics and Rare Diseases Information Center Finding …