Information for Referring Doctors

LIke ThisLIke ThisLIke ThisLIke ThisLIke This

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.

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 click the link below.

More information about enrolling a patient in the GDC

 

Gene Discovery Core Funding Application

Below are links to the seven project areas of particular focus by The Manton Center Senior Scientists. Patients with related conditions are invited to contact the Center for enrollment in the GDC or to contact the investigators directly through their laboratory websites.

The Senior Scientist Program currently supports seven project areas:

Development of Cell-Based Therapies

Molecular Genetics and Therapy of Congenital Myopathies

Basic and Clinical Research on Galactosemia

Molecular Basis for Ion Channel Disorders

Genetics of Microcephaly/Mental Retardation

Gene Discovery in Cranial Motor Neuron Disorders and Strabismus

Genetics and Clinical Treatment of Primary Immunodeficiency Diseases

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 fieldsThis department is currently not accepting appointment requests onlineThis department is currently not accepting appointment requests online

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