Pediatrics

Large Study of Subtle, Rare Genetic Differences Reveals Several New Clinically Relevant Targets for Variety of Diseases



A large, multicenter study led by researchers at Children’s Hospital of Philadelphia (CHOP) compared the genomic data of more than 100,000 people of European ancestry and discovered how relatively rare, albeit recurrent, genetic variations can influence a variety of common diseases. In addition, existing drugs could be repurposed to target these conditions – ranging from autoimmune diseases to neuropsychological diseases and even cancer – now that the genetic underpinnings of these conditions are known.

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