CLARITY Undiagnosed Challenge
For the past year, the Undiagnosed production team has been working with Harvard Medical, Boston Children’s Hospital and Illumina on launching a “diagnostic challenge” for the 5 patients whose medical mysteries the film has been documenting.
In a dream now becoming reality, some of the world’s best medical minds will soon be participating in this challenge! 30 teams of specialists from around the globe will to try to diagnose these patients by analyzing each of their family’s newly sequenced genetic information and health records.
Undiagnosed will be documenting the CLARITY Challenge for the film with the goal of highlighting the roles of technology, collaboration and the evolution of medical sciences. By showing innovative ideas of how diagnosis and data allocation can be successfully done, Undiagnosed will bring to light this timely issue of a profoundly underestimated population and impact the future of medicine.
The CLARITY Undiagnosed Challenge will launch on July 13th. Research teams have until June 25th to apply to compete. For more information, read the Press Release below or visit www.bostonchildrens.org/clarity-undiagnosed.
PRESS RELEASE - May 21, 2015
FOR IMMEDIATE RELEASE: May 21, 2015
CONTACT: Keri Stedman
Boston Children’s Hospital
Boston Children’s Hospital launches second CLARITY Challenge
Research teams to focus on undiagnosed disease, seek answers for five patients
(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 of the 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 sites around 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.
PRESS RELEASE - June 3, 2014
FOR IMMEDIATE RELEASE
Media Contact: Lee Rech
Groundbreaking Documentary on Undiagnosed Diseases Seeks
$150K In Crowdfunding To Change the Future of Medicine
Park City filmmakers create extraordinary narrative to showcase the struggle of millions of people who are living with undiagnosed illnesses, revealing the need for a database solution that catches the attention of Internet Pioneer Vinton Cerf.
PARK CITY, Utah—June 3, 2014—Millions of people worldwide live everyday with perplexing, undiagnosed illnesses that remain a mystery to their doctors. For the first time ever, this issue is the subject of a feature-length documentary titled Undiagnosed: Medical Refugees. From the position of being an undiagnosed patient and clinician, the film’s Creator and Co-director Dr. Katia Moritz gives the audience a personal perspective of the diagnostic odyssey and the impact of the undiagnosed population on the future of medicine.
The filmmakers must raise $150,000 by June 18, 2014 to meet the upcoming Sundance Film Festival submission deadline via their Kickstarter crowdfunding campaign. “The success of the Kickstarter campaign depends on it going viral. We need people to make any size donation and spread the word,” said Undiagnosed: Medical Refugees Producer Crystal Shearman.
The total number of undiagnosed patients is unknown but considered to be vast. To provide some perspective on this epidemic, consider that it takes an average of 7.6 years in the United States to uncover a rare disease diagnosis. Worldwide there are an estimated 350 million people living with a rare disease; add to those, patients still waiting for a diagnosis, patients who have been misdiagnosed, and adults and children who have diseases not yet named or recognized.
While revealing the strength of the human spirit, the powerful stories told through interviews with doctors, medical administrators, and those families afflicted with perplexing illnesses create needed awareness of this much ignored tragedy. The documentary also sheds light on solutions including the vision of a database to store all undiagnosed cases. This essential technology tool would globally connect doctors and patients to other undiagnosed cases showing similar symptoms, thereby sharing treatment knowledge and expediting diagnosis. Moritz points out, “Much more than a movie, Undiagnosed: Medical Refugees addresses the missed opportunity to collect valuable data that could lead to new diagnoses and new treatments that would benefit all
The medical documentary was featured at the recent Future in Review 2014 technology conference as part of the “Documentaries That Change the World” presentation, leaving a lasting impression on Internet pioneer Vinton G. Cerf. Likening the film’s mission to the dawn of the Internet and the prolific information sharing impact that resulted throughout the world, Cerf sees the same life-changing potential in the documentary’s exploration of federated information databases.
“This purposeful project will enable exploration of unexplored and critical areas of healthcare,” said Cerf. “We are not that far away from a tipping point if it becomes possible to analyze aggregated and anonymized information about people’s physical and symptomatic conditions. I am excited about this movie and the potential for data that can move the undiagnosed demographic closer to hope and cure.”
To watch the powerful movie trailer and donate to the Undiagnosed: Medical Refugees Kickstarter crowdfunding campaign, visit www.UndiagnosedFilm.com. Click to Tweet @UndiagnosedFilm (#undiagnosedfilm, #raredisease); follow on Facebook at www.facebook.com/undiagnosedfilm.
EDITORS NOTE: Undiagnosed: Medical Refugees Creator and Co-director Dr. Katia Moritz and Producer Crystal Shearman are available for comment.