The Manton Center | Information for Patients & Families

The Manton Center is enrolling for the state-of-the-art Gene Discovery Core (GDC), a genetic laboratory and database which will compile both genotypic and phenotypic information for patients with orphan disorders. The GDC employs a "hub and spokes" model: the GDC (the hub) will funnel the results of genetic tests to scientists studying each respective disease (the spokes). 

By collecting DNA and associating 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 utilize to facilitate the study of disease.


Enrollment with the GDC

 All the information regarding enrolling with the GDC can be found on our GDC Enrollment Process page.


"Commonly Used Words/Terms” – “Helpful Terms to Know”

Please click on the links below to learn more about some commonly used words and helpful terms to know.

Whole Exome Sequencing (WES)
Whole Genome Sequencing (WGS)
WES/WGS Reanalysis
Follow-up Studies


New Patient Resources


GenomeConnect is an online registry where participants can contribute to the understanding of genetics and health by sharing de-identified genetic and health information. This platform also allows participants to learn about research opportunities and connect with other participants through Genome Connect’s participant matching feature.

Global Genes (contains toolkits)

  • Parenting a Child With a Life-Limiting Illness
    Living with a child with a life-limiting illness can be understandably stressful for a family. This toolkit offers advice on maintaining family relationships and explains special equipment that may be used in your child’s care, as well as what financial and community resources are available to support you and your child.
  • Genetic Testing: Is This My Path to a Diagnosis
    This informative toolkit provides an overview of basic genetics and lists current genetic testing techniques, along with an explanation of each test’s purpose, general cost, limitations, and time to complete.

Exceptional Lives

Exceptional Lives is a not-for-profit organization that provides information on resources and services for families of kids with special needs. For residents of Massachusetts and Louisiana, this platform is especially useful as it helps parents and caregivers find doctors and programs near them. For residents of other states, the site provides a helpful guide on available national programs.

Sources that contain interactive elements (videos, images)


Learn.Genetics is a website that offers multimedia educational material to improve understanding of genetics in a fun and interactive way.


Contact Us

 If you have any further questions or would like further information about the GDC, please feel free to reach out and contact us. We would be more than happy to help!


This page was last updated December 18, 2020.