News tagged with rare genetic disease

Global genome effort seeks genetic roots of disease

By decoding the genomes of more than 1,000 people whose homelands stretch from Africa and Asia to Europe and the Americas, scientists have compiled the largest and most detailed catalog yet of human genetic ...

Oct 31, 2012
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New DNA test for diagnosing diseases linked to childhood blindness

Researchers in the United Kingdom have demonstrated that advanced DNA testing for congenital cataracts can quickly and accurately diagnose a number of rare diseases marked by childhood blindness, according to a study published online today in Ophthalmology, the journal of the American Academy o ...

Aug 21, 2014
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Study pinpoints protective mutations for type 2 diabetes

An international team led by researchers at the Broad Institute and Massachusetts General Hospital (MGH) has identified mutations in a gene that can reduce the risk of developing type 2 diabetes, even in people who have risk ...

Mar 02, 2014
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New genetic cause of warburg micro syndrome identified

A collaborative team of researchers led by researchers at the Medical College of Wisconsin and the University of Edinburgh has identified a gene responsible for Warburg Micro syndrome, a rare genetic disease characterized ...

Nov 14, 2013
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