Research

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About the Program

The Manton Center for Orphan Disease Research at Boston Children's Hospital 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, Children's joined in a partnership with The Manton Foundation to create a 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.

A rare, or “orphan” disease is defined as a disease or disorder that affects less than 200,000 people in the United States at any given time. However, the word rare seems somewhat unfitting when we realize that 30 million people in the U.S. are affected by a rare disease. While many people live with these rare or unknown conditions, a lack of scientific knowledge about their underlying causes can often lead patients through a journey complicated by misdiagnosis, poor treatment options, and lack of funding for research and advocacy.

Founded in 2008, the Manton Center is one of the first centers in the world solely devoted to the study of rare diseases. The Center hopes to increase our scientific knowledge about rare diseases through supporting patient-focused research, building collaborations within the rare disease community, and funding existing research efforts focused on rare diseases. Through the various research projects, funding and awards, and outreach efforts, the Center facilitates the discovery and development of more effective diagnostic pathways and therapies for rare or unknown conditions.
 

The Manton Center Goals

The Manton Center is a home for physicians and scientists at Children's who share a common vision. The goals of this collaboration are 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

For more information, see the CLARITY Challenge.

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