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Genetic Disorders
Methylmalonic acidemia is a group of inherited disorders in which the body is unable to process certain proteins and fats (lipids) properly.
… (or mistakes) in the MMAA , MMAB , and MUT genes. About half of the patients with isolated methylmalonic … that research will help doctors and scientists learn more about methylmalonic acidemia so that there will be better … About Methylmalonic Acidemia …
Genetic Disorders
Marfan syndrome an inherited disorder of connective tissue occurring once in every 10,000 to 20,000 individuals.
… due to connective tissue changes in the globe of the eye). About 60 percent of individuals who have Marfan syndrome have … About Marfan Syndrome …
Genetic Disorders
Familial hypercholesterolemia is an inherited condition causing increased low density lipoprotein cholesterol at birth and heart attacks at an early age.
… familial hypercholesterolemia. Additional Resources About Familial Hypercholesterolemia Medline Plus What is … About Familial Hypercholesterolemia …
Genetic Disorders
Antiphospholipid Syndrome is a disorder characterized by elevated levels of antibodies that are associated with clots in the arteries and veins.
… most commonly systemic lupus erythematosus (SLE). About 30-40 percent of individuals with SLE have elevated aPL … There are no hard and fast statistics about the number of people with aPL antibodies or APS. What … About Antiphospholipid Syndrome …
Genetic Disorders
Skin cancer is the most common type of cancer in the United States.
… areas that receive high amounts of UV radiation. About 10 percent of all patients with melanoma have family … What do we know about the causes and heredity of skin cancer? … About Skin Cancer …
Genetic Disorders
Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break easily, often from little or no apparent trauma.
… OI. Symptoms of OI type IV can range from mild to severe. About 25 percent of infants with OI type IV are born with … About Osteogenesis Imperfecta …
Leadership Initiatives
NHGRI aims to ensure all populations are knowledgeable about and can participate in genomics research.
… wants to ensure that all populations are knowledgeable about the science underpinning the Human Genome Project and genomics research, and have the opportunity to participate in … in the future. It is important for everyone to be informed about continuing genomic research and to understand the …
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.
… What do we know about heredity and Poland anomaly? … About Poland Anomaly …
Genetic Disorders
Retinitis pigmentosa is a group of inherited eye diseases that affect the retina (the light-sensitive part of the eye).
… What do we know about heredity and retinitis pigmentosa? … About Retinitis Pigmentosa …
Genetic Disorders
Dercum disease is a rare condition that is characterized by multiple, painful fatty tumors that occur chiefly in post-menopausal, obese women of middle age.
… What do we know about heredity and Dercum disease? … About Dercum Disease …