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About the Gene Discovery Core (GDC)

The GDC is a genetic research study within The Manton Center that focuses on learning more about rare and undiagnosed genetic conditions. We work with patients and families at Boston Children's Hospital and around the world who are searching for a diagnosis or a greater understanding of their rare disease.

In addition, the GDC is a database and repository established for studying and storing samples and medical/family histories for individuals with rare diseases. By collecting DNA and tissue samples and associating them with clinical information, the GDC will serve as a valuable resource for patients from all around the world to deposit their information and samples for further research. The scientists at Boston Children's Hospital and collaborators will work on those conditions to understand the disease mechanisms and further the study of orphan diseases.

GDC mission

At the Gene Discovery Core, our goals are to diagnose, understand, and promote the development of treatments for rare conditions.

The knowledge gained from this research will help families find diagnoses and will contribute to scientific advancements that improve human health. The information discovered will lead to a better understanding of rare diseases and assist in the development of treatments. By collecting DNA and combining genetic information with clinical information, the GDC will serve as a valuable genetic library that scientists at Boston Children's Hospital and their collaborators around the world can use to study rare diseases.

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 with the 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

A detailed explanation of the GDC enrollment process can be found on our GDC enrollment process page.

Enrollment includes:

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

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.

Contact us

Please contact us to receive more information about enrollment or to be assessed for eligibility.