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Critical Illness Contributors Found in Pediatric Exomes

In JAMA Network Open, researchers from Columbia University, Regeneron Pharmaceuticals, the New York City Office of Chief Medical Examiner's molecular genetics lab, and New York Presbyterian Hospital uncover excess rare, loss-of-function variants in children with critical illnesses or related deaths. Using exome sequence data for 267 pediatric critical illness cases, 18 deceased children with a history of bronchiolitis, and 9,990 unaffected controls, the team saw enhanced rare or ultrarare loss-of-function variation in 231 of the cases, although most patients were not diagnosed with a genetic condition. "This genetic association study found that critically ill children harbored excess [loss-of-function] variants," the authors reported, concluding that their findings so far "indicate that critically ill children harbor ultrarare risk variants detected by [exome sequencing], even in the absence of genetic diagnoses."