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Boston Children's Hospital announces international genomics competition winner
Date:11/7/2012

mutation in all three families, while the University of Iowa team took unique approaches to returning unexpected genetic results based on patient preferences and indicating regions of low coverage or low confidence in their reports.

Answers for families

For one of the three families, CLARITY solved a mystery more than a decade old. Sixth-grader Adam Foye had undergone testing for every gene known to explain his type of muscle weakness, a condition called centronuclear myopathy, always with negative findings. He also has hearing impairment.

Eight of the 23 CLARITY contestants identified alterations in a gene called titin as the cause of Adam's muscle weakness, and six teams identified mutations in a gene called GJB2 as the likely cause of his hearing loss. These results were judged to be correct, and three teams made both identifications.

CLARITY co-organizer Alan Beggs, Ph.D., director of the Manton Center for Orphan Disease Research at Boston Children's, had independently identified titin mutations in four other patients with centronuclear myopathy by using whole-exome sequencing. "Even if we had suspected titin mutations in Adam, it's an enormous gene, and to sequence it individually, by hand, would have taken nine months in the lab, at a prohibitive cost," Beggs says. "That's why genomic sequencing is such a revolutionary technology."

Titin's involvement makes biological sense, Beggs adds, since its protein makes up part of the contractile structure in muscles. Beggs now plans to model the titin defect in zebrafish, allowing his team to do large-scale testing of potential drugs that might correct it.

"We've been celebrating, we've been waiting for an answer for 11 y
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SOURCE Boston Children's Hospital
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