By combining the modern tools of gene sequencing and social media, a global team of researchers has confirmed the identification of a new genetic disorder that causes severe impairments in children.
The new disease, called NGLY1 deficiency, is reported online in the March 20 issue of Genetics in Medicine, the journal of the American College of Genetics and Genomics. The study describes the disease in eight patients, confirming the work of Durham, N.C.-based Duke Medicine scientists who originally identified the genetic mutation in a single young patient in 2012.
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