Current Environment:

Overview

Download our GDC flyer.

The Manton Center's Gene Discovery Core (GDC) is recruiting participants ofany agewithany rare or unclassified diagnosis和他们的家人。我们致力于理解，诊断和治疗罕见状况。

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 ofany agewitha rare or unknown diagnosis和他们的家人。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, sono trips to Boston Children's Hospital are requiredfor enrollment or study participation. There isno costto 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.

For more information about the GDC enrollment process pleasecontact us!

This page was last updated December 10, 2020.
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