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Information for Patients and Families

There has been a rare disorder diagnosed in my family. What next?

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.

If you, or someone you know, has a rare or undiagnosed condition, and you would be interested in more information on participation in the Gene Discovery Core, please contact the Manton Center.

How do I get involved?

Check out our online resources to learn more about the enrollment process into the Gene Discovery Core and about rare disease research. Contact the Manton Center for more information or to enroll your family.

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