Emory team part of international diagnostic challenge
Woodruff Health Sciences Center | Sept. 10, 2015
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An Emory team of geneticists and genetics counselors is participating in the Clarity Undiagnosed competition, hosted by Boston Children's Hospital and Harvard Medical School.
In Clarity Undiagnosed, 26 teams of researchers from around the world are competing to resolve "medical mysteries" for five patients with undiagnosed conditions.
The teams are provided clinical summaries and DNA sequence information from the patients and their families, but they are barred from direct interaction with the patients or their families. The teams will do their best to interpret the data and provide answers, and a $25,000 prize will go to the team that solves the mysteries in the most complete and useful way, as judged by an independent panel.
"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," says Alan Beggs, an organizer of the competition and director of Boston Children's Manton Center for Orphan Disease Research. "Families can go for years without a diagnosis, feeling isolation and sometimes despair. The promise of discovering the genetic basis for their condition allows patients to form communities and physicians to provide accurate prognostic predictions, genetic counseling and appropriate targeted therapies."
The five patients were identified through the producers of a forthcoming documentary film, Undiagnosed. A glimpse of some of the families is possible by viewing the film's trailer. Teams have until September 21 to submit their reports and the results of the competition will be announced in November in Boston.
The Emory team is led by genetics counselor Dawn Laney MS, CGC, CCRC, director of Emory's Genetic Clinical Trials Center. Team members include: Madhuri Hegde, PhD, Michael Gambello, MD, PhD, William Wilcox, MD, PhD, Rani Singh, PhD, RD, Suma Shankar, MD, PhD, Alekhya Narravula, MS, CGC, Kristin Cornell, MS, CRC, Cristina da Silva, MS, Sarah Richards, MS, CGC and Kimberly Lewis, MS, CGC.
Boston Children's and Harvard held a similar competition in 2012, which attracted teams from all over the world. This year, several teams from the United States have registered, as well as teams from Spain, Slovenia, Germany, Poland, Brazil and Israel.