Dr. Alan Beggs and Dr. Gary Fleisher with The Manton Foundation Trustees
An "orphan disease" is defined as any disease, syndrome or disorder that affects fewer than 200,000 people in the United States. These diseases mostly affect children and often appear before the age of 2 years. They can be debilitating and life-threatening. Of the 6,000 known rare diseases, 50 percent cause motor, sensory or intellectual deficiencies and 20 percent cause chronic pain. Many result in early death. An inadequate understanding of their underlying causes is the greatest obstacle standing in the way of new treatments and cures for orphan diseases. Many disorders are lumped together under a single diagnostic umbrella, making it difficult for physicians to identify appropriate and safe treatments. Further studies could uncover an underlying genetic flaw and open avenues of research to treat or correct the error.
Boston Children's Hospital
At Boston Children's Hospital, we have an advantage in approaching the complex subject of investigating orphan diseases. Children's is home to the world's largest pediatric research facility. With 1,100 researchers and support staff at the hospital, The Manton Center is housed in an exceptionally fertile environment for scientific exchange across departments. In addition, Children's sits at the nexus of what is arguably the world's richest concentration of research talent. The Manton Center reinforces and extend the tradition of collaborative problem-solving.
The clinical expertise of the physicians at Children's is unmatched. The reputation of our clinical staff attracts thousands of suffering children and families from around the world to Children's. A deep well of experience and a large sample size of patients are key success factors for intensively studying the molecular and cellular malfunctions that characterize these disorders. The significant representation of patients with rare diseases in the Hospital's patient population will enable scientists to more readily discern the patterns that predict disease. Boston Children's Hospital Press Release
Instead of individual scientists working in "silos" to understand specific orphan diseases, The Manton Center fosters collaborations between investigators to share ideas, resolves common challenges and attacks orphan diseases from multiple perspectives. The Manton Center's environment also attracts new experts and resources to address challenging issues, accelerating the discovery process.
Armed with the necessary research tools, financial support and collective determination, investigators at Children's have created an interdisciplinary program to narrow the gap that separates the study of rare diseases from mainstream medical research.
The major components of this program are