Information for Patients and Families

LIke ThisLIke ThisLIke ThisLIke ThisLIke This

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.

Request an Appointment

If this is a medical emergency, please dial 9-1-1. This form should not be used in an emergency.

Patient Information
Date of Birth:
Contact Information
Appointment Details
Send RequestIf you do not see the specialty you are looking for, please call us at: 617-355-6000.International visitors should call International Health Services at +1-617-355-5209.
Please complete all required fields

This department is currently not accepting appointment requests online. Please call us at: 617-355-6000. International +1-617-355-6000.

This department is currently not accepting appointment requests online. Please call us at: 617-355-6000. International +1-617-355-6000.

Thank you.

Your request has been successfully submitted

You will be contacted within 1 business day.

If you have questions or would like more information, please call:

617-355-6000 +1-617-355-6000
close
Find a Doctor
Search by Clinician's Last Name or Specialty:
Select by Location:
Search by First Letter of Clinician's Last Name: *ABCDEFGHIJKLMNOPQRSTUVWXYZ
More optionsSearch
Condition & Treatments
Search for a Condition or Treatment:
Show Items Starting With: *ABCDEFGHIJKLMNOPQRSTUVWXYZ
View allSearch
Visitor Information
The future of pediatrics will be forged by thinking differently, breaking paradigms and joining together in a shared vision of tackling the toughest challenges before us.”
- Sandra L. Fenwick, President and CEO
Close