Scientists have found a gene that causes Weaver syndrome, a rare genetic disorder that typically causes large size at birth, tall stature, developmental delay during childhood, and intellectual disability. Published today ...
Dec 15, 2011
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Ohio State University researchers have discovered a hereditary cancer syndrome that predisposes certain people to a melanoma of the eye, along with lung cancer, brain cancer and possibly other types of cancer.
Dec 15, 2011
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Poets might scoff at the notion that heart and brain are closely related, but scientists led by those at Baylor College of Medicine (www.bcm.edu) say a genetic defect that affects the brain can stop a heart.
Dec 14, 2011
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A new study, conducted by researchers at the University of California, San Francisco, has shed new light on a genetic disease known as Bardet-Biedl syndrome (BBS)—a condition in which patients show mental and developmental ...
Dec 13, 2011
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Potential clues to how autism miswires the brain are emerging from a study of a rare, purely genetic form of the disorders that affects fewer than 20 people worldwide. Using cutting-edge "disease-in a-dish" technology, researchers ...
Nov 27, 2011
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(Medical Xpress) -- Most cases of autism are not caused by a single genetic mutation. However, several disorders with autism-like symptoms, including the rare Fragile X syndrome, can be traced to a specific mutation. Several ...
Nov 24, 2011
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Tailored anti-platelet therapy, made possible through a novel point-of-care genetic test, optimizes treatment for patients who carry a common genetic variant, researchers at the University of Ottawa Heart Institute (UOHI) ...
Nov 9, 2011
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(Medical Xpress) -- New technology and innovations in genetic sequencing are dramatically changing the field of prenatal diagnosis and testing. Peter Benn, professor and director of the Diagnostic Human Genetics Laboratories ...
Nov 8, 2011
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A novel study involving fruit flies and mice has allowed biologists to identify two critical genes responsible for congenital heart defects in individuals with Down syndrome, a major cause of infant mortality and death in ...
Nov 4, 2011
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Researchers have identified a potential drug therapy for a premature ageing disease that affects children causing them to age up to eight times as fast as the usual rate.
Nov 2, 2011
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