GDC Enrollment Process

The Manton Center's Gene Discovery Core (GDC) is recruiting participants of any age with any rare or unclassified diagnosis and their family members. We are dedicated to understanding, diagnosing and treating rare conditions.

Your participation in this study may help health care providers and researchers better understand the 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 less than an hour & can be done during a visit to Boston Children’s or over the phone/email/mail. 

Then enrollment process includes:

  • Questions about medical and family history
  • Written and verbal consent from each family member enrolling* 
  • Blood or saliva sample
  • If applicable, access to tissue sample(s)

*For any participant enrolling, we typically like to enroll mom and dad too; siblings can also be really helpful in finding a diagnosis. However, additional family members are not required to participant.


To learn more contact the Manton Team:

617-919-3378 | GDC@childrens.harvard.edu