Brown helps win genomics challenge

A team of researchers led by Brigham and Women’s Hospital in Boston, including members of William Fairbrother’s lab at Brown, has won the national CLARITY genomics contest, organizers announced in San Francisco Nov. 7. Boston Children’s Hospital challenged more than 20 teams to analyze the whole genomes of three families to find the mutations causing a disease in children from each family. “Our group at Brown analyzed the mutations for the whole genome sequencing of the first family,” said Fairbrother, associate professor of biology in the Department of Molecular Biology, Cellular Biology, and Biochemistry. “The result was we identified two splicing mutations in the titin gene.” Postdoc Rachel Soemedi then tested those splicing mutations to confirm that the team’s predictions were correct. “We were elated to learn that our efforts have contributed to the end of the 11 years of diagnostic odyssey for Adam Foye, a boy with a rare neuromuscular disorder known as centronuclear myopathy,” Soemedi said. “Using ‘Spliceman,’ an algorithm previously developed in the Fairbrother lab, we determined the high likelihood that Adam’s mutations may cause defect in the correct splicing of this gene. I really hope that our success would lead to further advances in the interpretation of genome sequencing data that currently remains as the biggest challenge in this era of genomic medicine.”