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Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
… Studies of Asthma in Populations of African Descent Attention Deficit Disorder with Hyperactivity Genetic Analysis of Attention Deficit …
Genetic Disorders
The porphyrias are a group of different diseases, each caused by a specific abnormality in the heme production process.
… deficiency in the liver. Hemochromatosis, an iron overload disorder, can also predispose individuals to PCT. Twenty … types: Also called congenital porphyria. This is a rare disorder that mainly affects the skin. It results from low … inherited in an autosomal recessive pattern. An uncommon disorder that mainly affects the skin. It results from …
Genetic Disorders
Charcot-Marie-Tooth disease is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles and loss of sensation.
… arched foot or gait disturbances. Other symptoms of the disorder may include foot-bone abnormalities such as high … investigate whether the GARS gene plays some role in this disorder. And two defective forms of the gene implicated in …
Genetic Disorders
Retinitis pigmentosa is a group of inherited eye diseases that affect the retina (the light-sensitive part of the eye).
… loss are variable. … Retinitis pigmentosa is an inherited disorder, and therefore not caused by injury, infection or … factors. People suffering from RP are born with the disorder already programmed into their cells. Doctors can see … to their progressive degeneration. In most cases, the disorder is linked to a recessive gene, a gene that must be …
Genetic Disorders
Myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles and other body systems.
… of the altered (mutated) gene in each cell will cause the disorder. Usually a person who has myotonic dystrophy also … gene is passed down from one generation to the next. The disorder may begin earlier in life and signs and symptoms …
Genetic Disorders
Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement
Genetic Disorders
Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging.
… serves to reassure parents of affected children that their disorder stems from a sporadic genetic mutation and that …
Genetic Disorders
Familial hypercholesterolemia is an inherited condition causing increased low density lipoprotein cholesterol at birth and heart attacks at an early age.
… in their 40's to 50's, and 85 percent of men with the disorder have a heart attack by age 60. Women who have …
Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
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.
… have suggested that Dercum disease is an autoimmune disorder (a condition that occurs when the body's immune …