A rapid, non-invasive eye exam that uses innovative imaging technology effectively measures the severity of disease in patients with a rare neurodegenerative disease called Friedrich ataxia, according to a study by Weill ...
Jan 30, 2019
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Researchers studying Drosophila fruit flies have found that in flies, providing a common dietary supplement prevents death caused by Pngl deficiency, the fly analog of the human genetic disorder N-Glycanase 1 (NGLY1) deficiency. ...
Oct 20, 2016
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(HealthDay)—For patients with suspected genetic disorders, whole-exome sequencing identifies the underlying genetic defect in 25 percent of cases, according to a study published online Oct. 2 in the New England Journal ...
Oct 3, 2013
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