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Genetic Disorders
Severe Combined Immunodeficiency is a severe, genetic condition of the immune system.
… SCID, commonly called ADA SCID, is a very rare genetic disorder. It is caused by a mutation in the gene that encodes …
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.
… is more severe, hand and arm abnormalities make the disorder more apparent early in life. The most viable …
Genetic Disorders
Alpha-1 antitrypsin deficiency is an inherited condition that causes low levels of, or no, alpha-1 antitrypsin in the blood.
… PiMZ' or 'type PiMS'), that person is a carrier of the disorder. While such a person may not have normal levels of …
Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
Genetic Disorders
Turner syndrome is a chromosomal condition that alters development in females.
Research Funding
The GREGoR (formerly the Mendelian Genomics Research Consortium) is aimed at significantly increasing the proportion of Mendelian disorders with an identified genetic cause through enhanced data sharing, collaboration and an increased focus on the application of new technologies, sequencing strategies and analytical approaches.
Genetic Disorders
Colon cancer is a malignant tumor of the large intestine that affects both men and women.
Genetic Disorders
Skin cancer is the most common type of cancer in the United States.
Genetic Disorders
Prostate cancer is a disease where certain cells in the prostate become abnormal and multiply to form a tumor.
Genetic Disorders
Hereditary hemochromatosis is a genetic disease that alters the body's ability to regulate iron absorption.