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- Multi-Omics for Health and Disease (Multi-Omics)1
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- Genomics-Enabled Learning Health Systems (gLHS)2
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Genetic Disorders
Skin cancer is the most common type of cancer in the United States.
… play a role. UV radiation can damage the DNA, or genetic information, in skin cells, creating "misspellings" in their … a combination of these methods. Additional Resources for Information on Skin Cancer Medline Plus: Skin Cancer NCI: …
Genetic Disorders
Myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles and other body systems.
… Home Reference: CNBP gene NINDS Muscular Dystrophy Information Page Genetic Testing Registry: Myotonic Dystrophy …
Genetic Disorders
The porphyrias are a group of different diseases, each caused by a specific abnormality in the heme production process.
… that you contact a genetics clinic to discuss this information with a genetics professional. To find a genetics …
Genetic Disorders
Severe Combined Immunodeficiency is a severe, genetic condition of the immune system.
… by chemical messengers called cytokines, transmits information that directs lymphocytes to mature, proliferate … cells for clinical use. Additional Resources for Information on SCID NCBI Bookshelf: Severe Combined …
Genetic Disorders
Antiphospholipid Syndrome is a disorder characterized by elevated levels of antibodies that are associated with clots in the arteries and veins.
… Association, Inc . NINDS Antiphospholipid Syndrome Information Page Antiphospholipid syndrome … What is …
Genetic Disorders
Klinefelter syndrome is a condition that occurs in men as a result of an extra X chromosome. The most common symptom is infertility.
… Karyotyping American Association for Klinefelter Syndrome Information and Support GARD: Klinefelter Syndrome … What is …
Genetic Disorders
Breast cancer is the second most common cancer in women after skin cancer.
… a "known mutation." Positive test results only provide information about the risk of developing breast cancer. The …
Genetic Disorders
Hereditary hemochromatosis is a genetic disease that alters the body's ability to regulate iron absorption.
… risk. Additional Resources for Hereditary Hemochromatosis Information Genetics Home Reference: Hemochromatosis …
Genetic Disorders
Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging.
… Testing Program . Additional Resources for Progeria Information NIH Fact Sheet: Progeria Medline Plus: Progeria …
Genetic Disorders
Achondroplasia is a disorder of bone growth and the most common form of disproportionate short stature.
… - MedlinePlus Achondroplasia - Genetics and Rare Diseases Information Center … What is achondroplasia? … What are the …