Gene Discovery Core

The GDC is currently enrolling participants!

For each participant, The Manton Center's Gene Discovery Core (GDC) offers something different.  Currently, we are enrolling both individuals who have a known, but rare, diagnosis and individuals who are still seeking a diagnosis.  For those seeking a diagnosis, we may be able to offer state-of-the-art genetic analysis tools including:

  • whole exome sequencing (WES)
  • WES reanalysis for those who already had clinical WES testing but no diagnosis was found 
  • whole genome sequencing (WGS)

Travel to Boston is not required for enrollment or for study participation. 

Email the GDC at to receive more information about enrollment or to be assessed for eligibility. 

In addition, the Gene Discovery Core (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.