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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.

Resources for Rare Diseases

Genetic Alliance
An online network of genetic professionals and patients focused on promoting informational resources and patient advocacy. The site contains many "patient friendly" resources.

National Institutes of Health (NIH) Office of Rare Diseases
A government run organization dedicated to rare diseases. The website aims to answer questions about rare diseases and contains useful information about patient advocacy groups and ongoing research trials.

National Organization for Rare Disorders (NORD)
An umbrella organization which brings together smaller foundations focused on orphan diseases. The site contains excellent informational resources on rare disorders and patient support groups.

Orpha.net
European database with information on rare diseases and orphan drugs. Text is available in English, Dutch, French, Italian, and Spanish.

Disease Specific Organizations

Gastroparesis Patient Association for Cures and Treatments, Inc. (G-PACT)
An organization dedicated to providing assistance to patients and families affected by Gastroparesis.

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