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About the Center | Overview

The Manton Center for Orphan Disease Research at Boston Children's Hospital was created in 2008 to improve multiple areas of rare disease research and care: 1) understanding the underlying cause, 2) characterizing the condition, 3) promoting the development of treatment, and 4) applying 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 understudied but scientifically important conditions. Via the Manton Center, experts committed to answering critical questions posed by puzzling and difficult conditions 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, limited treatment options, and a lack of funding for research and advocacy.

The Manton Center is comprised of of multiple programs, each focused on rare disease research. Learn more about these programs below.