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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Britain to map 100,000 DNA code sequences

British scientists are to map 100,000 complete DNA code sequences in a project that will make the country a world leader in genetic research on cancer and rare diseases, the prime minister said on Friday.

Aug 01, 2014
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Gene correction for a rare disease

Angeles suffers from a severe and rare genetic disease called Acute Intermittent Porphyria (AIP). This means, one of her genes restrains her liver to produce a specific protein needed for the metabolism of ...

Jul 02, 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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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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Protalix signs supply deal with Brazilian govt

Shares of Protalix BioTherapeutics Inc. jumped in premarket trading Wednesday after the drug developer announced a deal that requires the Brazilian government to buy at least $280 million of the company's Gaucher disease ...

Jun 19, 2013
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