News tagged with rare mutations

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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Research team identifies new genetic syndrome

Researchers at the National Institutes of Health (NIH) have identified a new genetic syndrome characterized by a constellation of health problems, including severe allergy, immune deficiency, autoimmunity and motor and neurocognitive ...

Mar 04, 2014
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