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Although a consortium team led by the BWH Division of Genetics received the Children's Leadership Award for the Reliable Interpretation and appropriate Transmission of Your genomic information (CLARITY), the real winners of this challenge were Children's Hospital patient Adam Foye and his family.
The CLARITY challenge asked researchers to solve the genetic mysteries of real families through genomic sequencing. Led by BWH's Shamil Sunyaev, PhD, the consortium team did just that, shedding light on sixth-grader Foye's 10-plus-year medical diagnosis mystery. Through analysis of his and his parents' genomic sequence, team members found a strong link between Foye's rare muscular disorder, centronuclear myopathy, and titin-the largest gene in the human genome.
In January 2012, Children's provided 30 research teams with the medical data of three children with rare disorders, including Foye, and their parents. The data included whole-genome and selective genome, or exome, sequences generated by contest sponsors Life Technologies and Complete Genomics. The teams were charged with interpreting and analyzing these DNA sequences and communicating their results in an effective, accessible way for the first-of-its-kind international challenge.
"We had very different types of people collaborating together, including basic scientists, physicians, clinical geneticists, computational biologists and more," said Sunyaev. "We wanted to assemble a team that covered a variety of experiences and expertise. This was the key; we had people who usually don't work together collaborating in the same room."
While many entries received high marks, the BWH consortium team was judged to have the best combination of cutting-edge bioinformatics analysis, clarity and utility of its clinical reports for the three families, while also identifying the likely mutation for Foye's disorder. The team included individuals from the Division of Genetics, MGH, Partners Laboratory for Molecular Medicine, Brown University and Utrecht University in the Netherlands.
The team's findings will likely help Foye's physicians eliminate other potential mutations and move forward with the hope of an effective treatment.
Sunyaev and his team plan to keep up the momentum of the challenge win and continue to meet to refine their work.
"We hope to come up with a table of the most important things to consider in the interpretation of genomic data, and share this information," said Sunyaev. "This could streamline the analysis of future cases; hopefully others could also benefit from our tools of analysis."
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