News tagged with rare genetic disease

Crowdfunding helps solve rare disease mystery

Rare diseases—those that affect fewer than one in 200,000 people—are often identified early in life. Some 30 percent of children afflicted by these "orphan diseases" do not live to see their fifth birthday. ...

Feb 10, 2015
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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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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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