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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 …
For Patients and Families
FAQs about genetic disorders, the impact of genomics on your health, and the emerging science of pharmacogenomics.
For Patients and Families
List of resources to help you find accurate and reliable information on genetic and rare diseases.
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… Case reports: These articles describe and discuss the clinical aspects of an individual with a disease. Such … in humans. Some of the more common studies include clinical trials, case-control studies, cohort studies and … Help from Genetic Alliance The Access To Credible Genetics (ATCG) Resource Network has developed the Quality …
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.
News Release
The Genetics/Genomics Competency Center now includes a new section on pharmacogenetics and pharmacogenomics.
… Jeannine Mjoseth … The Genetics/Genomics Competency Center (G2C2), a free, online … pharmacogenomics," said Jean Jenkins, R.N., Ph.D., NHGRI clinical advisor, Genomic Healthcare Branch. "The new … For example, the website PharmGKB and guidelines from the Clinical Pharmacogenetics Implementation Consortium (CPIC) …
MINC
Establishing stakeholder partnerships paves the way for developing an action plan for your clinical setting.
… paves the way for developing an action plan for your clinical setting. … Teamwork can assure that others in your … from Senior leadership (see Educator Resource Integrating Genetics & Genomics Education into Nursing Workforce Clinical Practice ). When staff see that leadership value …