Current Environment:

 

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.

Research opportunities

For those seeking a diagnosis, our research program may be able to complete genetic studies on a research basis. If relevant results are found, we can work with your healthcare providers to confirm the results with a clinical test.

Genetic studies may include:

  • Whole Exome/Genome Sequencing (WES & WGS): Genetic tests that sequence DNA in hopes of identifying causative gene(s).
  • Genetic Reanalysis: Involves reviewing existing genetic data for those with non-diagnostic clinical testing.
  • Follow-up Studies: Involves working with your physician and other scientists to better understand an unclear genetic result.

Who we enroll

We enroll participants of any age with a rare or unknown diagnosis and their family members. Enrolling parents and siblings can be helpful in finding a diagnosis but is not required for participation.

How to enroll

Enrollment can be done by mail, email, and phone, so no trips to Boston Children's Hospital are required for enrollment or study participation. There is no cost to participate.

The enrollment Includes:

  • written and verbal consent (phone call or in-person meeting) for each family member participating
  • questions about medical and family history/sharing medical records
  • DNA samples (blood or saliva)
  • if applicable, access to tissue sample(s)
  • ollaboration with your/your child’s clinicians to assist in the enrollment and research process

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.

 

Download our GDC flyer

 

For more information about the GDC enrollment process please contact us!