News tagged with rare genetic disease

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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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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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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Vitamin B12 deficiency: Tracking the genetic causes

Vitamin B12 is essential to human health. However, some people have inherited conditions that leave them unable to process vitamin B12. As a result they are prone to serious health problems, including developmental delay, ...

Aug 26, 2012
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Skin cell defect is surprising allergy trigger

In a new study published in Nature Genetics, Northwestern Medicine and Tel Aviv University scientists have found that a structural defect in skin cells can contribute to allergy development, including skin and food allerg ...

Aug 26, 2013
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Cause of rare growth disease discovered

A rare genetic disease which causes some parts of the body to grow excessively has been linked to a cancer-associated mutation that drives cell growth, potentially paving the way for new treatments. The research ...

Jun 25, 2012
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