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Gene Discovery Core

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.

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 Gene Discovery Core.

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.

Pankaj Agrawal, MD, MMSc
Dr. Agrawal is the Principal Investigator and Medical Director for The Manton Center's Gene Discovery Core. He is in charge of overseeing participant recruitment, whole exome/genome sequencing, analyzing genomic data and identification of causative genetic variants in various rare disease patients. Dr. Agrawal's research is focused on identifying genetic and molecular basis of orphan diseases that include various congenital myopathies. Clinically, Dr. Agrawal cares for patients in Children's Hospital's Neonatal Intensive Care Unit.

Ingrid A Holm, MD, MPH
Dr. Holm is the director of the Phenotyping Core of the Program in Genomics, and oversees the interactions between the Gene Discover Core (GDC) participants.

Issac Kohane, MD

Louis Kunkel, PhD

Kenneth Mandl, MD, MPH

Tram Anh Tran
Tran completed her Bachelor of Arts degree in Biology from Boston University. She has been a member of the Program in Genomics since 2006, collaborating with the Molecular Genetics Core Facility to offer a new branch of services dedicated to genomic sample management and banking.

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