Boston Children’s Hospital launches second CLARITY Challenge

(BOSTON, May 21, 2015)—Boston Children’s Hospital today announced CLARITY Undiagnosed, its second international competition to advance standards for genomic analysis in medicine. In this $25,000 crowd-sourcing challenge, up to 30 research teams will seek to solve the medical mysteries of five patients with undiagnosed disease and provide clinically useful, actionable information.

The first CLARITY (Children’s Leadership Award for the Reliable Interpretation and Appropriate Transmission of Your Genomic Information) Challenge was organized in 2012 with the goal of creating a framework for using genomics responsibly.

“We are moving into an era where understanding the meaning of vast amounts of new genomic information is our greatest hurdle,” notes CLARITY co-organizer Alan Beggs, PhD, director of the Manton Center for Orphan Disease Research at Boston Children’s Hospital and professor of pediatrics at Harvard Medical School (HMS). “CLARITY Undiagnosed will focus on this problem in the context of rare, complicated, undiagnosed illness.”

Patients are considered to be undiagnosed if no explanation for their symptoms can be found over a reasonable period of time. They may spend years going from doctor to doctor, and misdiagnoses, treatment delays and repeated, often unnecessary and costly tests are frequently the norm. Reasons for being undiagnosed include:

·      Proper testing has not been done, or results were not interpreted correctly

·      The right specialist has not been found

·      The patient has a known condition that is presenting in an unusual way

·      The illness has not yet been understood or named.

“We know that medicine is rife with misdiagnoses or late diagnoses, and long-term undiagnosed cases illustrate this problem most acutely,” says CLARITY co-organizer Isaac Kohane, MD, PhD, professor of pediatrics at Boston Children’s Hospital and inaugural chair ofthe Department of Biomedical Informatics (DBMI), which launches July 1 of this year at Harvard Medical School (HMS). “The CLARITY Challenge will illuminate how properly aligned teams with genomics, informatics and clinical experts can advance the diagnostic art.”

Best genomic practices

CLARITY Undiagnosed will be led by specialists in rare disease, genetics, genomics and bioinformatics at the Manton Center and the DBMI. It is made possible by longtime hospital donor Rob Hale, CEO of Granite Telecommunications, his wife Karen and their family.

Teams will have until June 11, 2015 to apply to compete. Up to 30 teams will be selected and given two months to conduct their investigations. All will receive whole genome sequence data and clinical information for the five families in the Challenge.

The families were identified through producers of a forthcoming documentary film, Undiagnosed. Independent of the Challenge, the film will look to chronicle the CLARITY teams’ efforts. Teams are under no obligation to participate in the film, and the families will not be available to either the research teams or the media for the duration of the Challenge.

The research teams’ reports will be judged by an independent panel. Results will be announced in November at Boston Children’s Hospital’s third annual Global Pediatric Innovation Summit + Awards 2015.

Undiagnosed Diseases Network

In addition to conducting CLARITY Undiagnosed, Boston Children’s Hospital is part of the National Institutes of Health’s Undiagnosed Diseases Network (UDN). Together with Brigham and Women’s Hospital and Massachusetts General Hospital, it is one of six new UDN sitesaround the country, receiving a $7.19 million, four-year grant. Nationally, the DBMI was awarded $9 million to serve as the UDN’s coordinating center under Kohane’s leadership.

“What CLARITY hopes to stimulate through its crowdsourcing competition—the ability to provide answers for patients with medical mysteries—the UDN seeks to turn into routine practice,” Kohane says.

For more about CLARITY Undiagnosed, visit bostonchildrens.org/clarity-undiagnosed and read today’s Vector post on the announcement. For more about CLARITY’s first challenge in 2012, visit Bostonchildrens.org/clarity and view this video about the findings.


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