Gene Discovery Core

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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 that scientists at Boston Children's Hospital and their collaborators around the world can utilize to further the study of orphan diseases.

The Gene Discovery Core (GDC) is enrolling participants!

For each participant, The Manton Center's human research protocol offers something different. Currently, we are enrolling both individuals who have a known, but rare, diagnosis and individuals who are still seeking a diagnosis. We offer state-of-the-art genome analysis tools that benefit both groups.

Find more information about enrolling here


Are you an Investigator interested in samples from the GDC?

Please complete a Material Transfer Agreement to gain access to samples in the GDC.  You may also request funding for your analysis by completing an Analysis Funding Application.  Please send all completed forms to Meghan Connolly.

Below is a list of our team of scientists with backgrounds in genetics, bioinformatics, and computer technology who are building the infrastructure for this revolutionary system. Click on their names below to find out more about their backgrounds and research.

Pankaj Agrawal, MD, MMSc
Neonatology and Genetics

Ingrid Holm, MD, MPH
Genetics and Endocrinology
Director, Phenotyping Core, Program in Genomics
Isaac Kohane, MD, PhD
Chair, Informatics Program

Louis Kunkel, PhD
Director, Program in Genomics

Kenneth Mandl, MD, MPH
Faculty, Division of Emergency Medicine and Biomedical Informatics

Tram Tran
Lead Research Technologist

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