The Manton Center for Orphan Disease Research Gene Discovery Core (GDC) at Boston Children’s Hospital is recruiting participants of any age with a rare or unclassified diagnosis and their family members.
To asses you or your family’s eligibility, please email your Phenotypr HPO terms and preferred contact info to
If you don't have your HPO terms please use one of our tools to get them.
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Thank you for applying. Cases of interest will be contacted for further information and to assess interest in study enrollment.

First name is required.
Last name is required.
Preferred Contact Info
Please tell us how we should contact you.
About the Study

If eligible, participation takes approximately 1-2 hours and can be done remotely via mail and phone and may include:

  • Questions about medical and family history
  • Blood or saliva sample
  • Access to any available tissue sample(s)

To learn more, please contact the GDC Staff:
(617) 919-3378 ||

This research is being conducted by Pankaj Agrawal, MD, MMSc

About the Manton Center

We are dedicated to developing methods for understanding, diagnosing and treating unusual diseases. Your participation in this study may help health professionals better understand the basic mechanisms of human disease and make advances in diagnosing and treating both rare and common health problems. It may also lead to discovering more information about the rare/unclassified disorder in your family.