Research

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Information for Referring Doctors

The Manton Center was created to help patients worldwide by pushing forward the frontiers of research to understand the basis of rare diseases and develop diagnostic methods and effective treatments for patients with these conditions. The Manton Center is focused on research to create a better future, and does not conduct clinical trials or provide funding or services for diagnosis or treatment of individual patients. However, many of the research projects conducted by our Scientists include clinical studies that may involve direct patient participation. In addition, the Gene Discovery Core is being developed to enroll patients with rare diseases into a long-term study (the "Gene Partnership Project") to analyze their genetic constitution and its relationship to their particular disorder. By bringing together the medical information and data on a large group of patients over time, The Manton Center Gene Discovery Core will be able to amass sufficient numbers of patients with particular rare conditions to make meaningful progress in those areas.

"Our kids need help. We need treatments."

- Mother of participant

The Manton Center is enrolling for the state-of-the-art Gene Discovery Core, a genetic laboratory and database which will compile both genotypic and phenotypic information for patients with orphan disorders.

The Gene Discovery Core (GDC) employs a "hub and spokes" model: the GDC (the hub) will funnel the results of genetic tests to scientists studying each respective disease (the spokes). By collecting DNA and associating genetic information with clinical information, the GDC will serve as a valuable genetic library that scientists at Boston Children's Hospital and their collaborators around the world can utilize to facilitate the study of disease.

Gene Discovery Core Funding Application

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