Representatives from the winning team, Nationwide Children's Hospital, receive their prize.
Pictured from left to right: Catherine Brownstein, Donald Corsmeier, Peter White, Alan Beggs.
BOSTON: Nov 10, 2015 – Boston Children’s Hospital announced today at the Global Pediatric Innovation Summit + Awards the results of its international CLARITY Undiagnosed Challenge. In this genomics competition, 26 registered teams from seven countries sought to interpret DNA sequences and provide information to five families about conditions that had eluded diagnosis despite multiple doctor visits, tests and genetic studies.
The Manton Center for Orphan Disease Research
Jorg Richter visits the Manton Center after biking coast to coast across the United States for rare disease awareness.
The Manton Center for Orphan Disease Research at Boston Children's Hospital (BCH) was created to develop new methods for understanding, diagnosing and treating unusual diseases and to apply this knowledge to make fundamental scientific advances with broad implications for human health. To reach these goals, BCH joined in a partnership with the Manton Foundation to create the world’s first and only center devoted to understanding “orphan diseases” – genetic syndromes, immune system problems, errors of metabolism, neuromuscular disorders and other little-noticed but scientifically important disease processes. In our center, experts committed to answering critical questions posed by puzzling and difficult diseases can collaborate, multiplying the impact of key medical discoveries and helping children and families facing profound medical challenges.
The Manton Center Goals
The Manton Center will be the home for physicians and scientists who share a common vision. The goals of this collaboration will be to:
- Unlock the mysteries of orphan diseases in order to develop better diagnostic tests and design new treatments and cures
- Discover fundamental biological principles that have broad applications and can lead to advances in our understanding of common diseases such as cancer, heart disease, diabetes and other major health problems
- Train a new generation of investigators who will infuse creative energy into the battle against orphan diseases
- Disseminate The Manton Center’s findings among lay and medical/ scientific communities locally, nationally and globally to spur interest and support for orphan disease research and care