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Boston Children's Launches Competition to ID Molecular Cause of Five Patients' Undiagnosed Disorders

NEW YORK (GenomeWeb) – Boston Children's Hospital said today that it has launched a competition to interpret genomic information and identify the molecular cause of five pediatric patients' undiagnosed disorders.

Twenty-six teams have registered for the Children's Leadership Award for the Reliable Interpretation and Transmission of Your genomic information (CLARITY) Undiagnosed challenge and received access to patients' whole-genome and exome sequence data in July. The five patients were identified through a documentary, Undiagnosed.

"There are more than 7,000 rare or 'orphan' diseases, so it's quite common for a patient's physician to have never seen a similar case," Alan Beggs, co-organizer of CLARITY Undiagnosed and director of the hospital's Manton Center for Orphan Disease Research, said in a statement.

The deadline for teams to submit their answers is Sept. 21 and the winner, who will receive $25,000, will be announced at the Boston Children's Hospital's Global Pediatric Summit + Awards in November. An independent panel will judge participants, not only on their ability to find the correct answer, but also on the clinical utility and actionability of their report.

The first CLARITY challenge was launched in 2012. Thirty teams attempted to solve the rare disease of three affected children with sequence data from both the children and their families. The winning team, led by Brigham and Women's Hospital, identified the cause for one family and found a probable cause for a second. The third patient's disease remained unsolved.

"In 2012, many of the computational methods for analyzing vast amounts of genetic sequences were just being worked out," Beggs said in the statement. "Today, those methods are well established, but medical genetic interpretation to determine which of the thousands of genetic variants may be disease-causing remains a hurdle, as does accurately, concisely, and clearly presenting this complex information to patients and caregivers."

The twenty-six contestants in the latest challenge include Bina Technologies; the Center for Genomic Regulation in Barcelona, Spain; the Clinical Institute of Medical Genetics in Ljubljana, Slovenia; Houston, Texas-based Codified Genomics; Emory University; Enlis Genomics in Berkeley, California; Geisinger Health System; Austin, Texas-based; Munich, Germany's Genomatix; the Institute for Systems Biology and Inova Translational Medicine Institute; Intelliseq in Krakow, Poland; Invitae; Mendelics in Sao Paulo, Brazil; Miti Medicine in Cambridge, Massachusetts; Nationwide Children's Hospital in Columbus, Ohio; Qiagen; the Rare Genomics Institute; Seven Bridges Genomics; SNPedia in Potomac, Maryland; SolveBio in New York; Stanford University; the University of Southern California; the University of Utah; Tel Aviv University; Tute Genomics; and Wuxi NextCode Genomics.