GDC Enrollment Process

The Manton Center for Orphan Disease Research Gene Discovery Core is recruiting participants of any age with any rare or unclassified diagnosis and their family members. 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.

Participation takes approximately 2 hours & can be done during a visit to Boston Children’s or over the phone/through your local physician. It includes:

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

Please contact Casie Genetti to learn more

617-919-3378 |

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