genetic disorder

Severe combined immunodeficiency (SCID), sometimes called 'Boy in the bubble syndrome', is a genetic disorder in which the patient lacks most types of immune cell.

Almost 10 years ago, two independent groups used gene therapy to treat a few infants with the most common form of SCID, SCID-X1, which is caused by mutations in the IL2RG gene.

(University of California - Los Angeles) A new UCLA study shows that the FDA-approved drug rapamycin reverses mental retardation in mice with a genetic disease called tuberous sclerosis complex.

Because half of TSC patients also suffer from autism, the findings offer a possible mechanism for addressing learning disorders due to autism.

Researchers have developed a new mouse model of Costello syndrome (CS) -- an inherited disorder that affects many parts of the body, causing multiple symptoms; for example, effects on the brain and heart result in mental retardation and structural heart defects, respectively.

A genetic disorder that can cause a fatal rise in body temperature in some patients undergoing general anesthesia may hold the key to a cure for heat stroke, according to new research in Cell.

Researchers have identified the gene responsible for a rare but serious genetic disorder and have simultaneously provided more clues as to how vitamin B12 works in the body.

Vitamin B12 is an essential water-soluble vitamin found in animal-based foods -- including dairy, eggs, meat, poultry, fish and shellfish -- but not in plants.