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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. Please send all completed forms to Gene Discovery Core.

Below is a list of our research and enrollment team 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.

Catherine Brownstein, PhD
As Scientific Director, Dr. Brownstein forms and maintains strong collaborative partnerships with other research teams and external partners. Through her collaborative work, Manton has built a robust pipeline in rare and orphan disease discovery. Dr. Brownstein has been instrumental in the elucidation of several new disease genes for conditions such as intellectual disability, nemaline myopathy, very early onset psychosis, and hypophosphatemic rickets. Her current work focuses on advancing the fields of next generation sequencing and analysis through openness and pre-competitive data sharing.

Klaus Schmitz-Abe, PhD
Dr. Schmitz-Abe is a bioinformatician by training. He is in charge of data curation and whole exome sequencing analysis using his in-house bioinformatics pipeline. 

Grace VanNoy, MS, CGC
Grace graduated with a B.S. from Bates College and earned her Master’s Degree in Genetic Counseling from Boston University in 2016. She has been working with the Manton Center since 2016. Grace is a project manager of the GDC, overseeing patient enrollment, coordination of genomic sequencing and investigator initiated studies.

Casie Genetti, MS, CGC
Casie graduated with a B.S. from Davidson College and earned her Master’s Degree in Genetic Counseling from Boston University in 2015. She has been working with the Manton Center since 2015. Casie is a project manager of the GDC, overseeing patient enrollment, coordination of genomic sequencing and investigator initiated studies.

Kathryn Dunn
Katie graduated with a B.S. from Northeastern University and has been working with the Manton Center since 2014. Katie works with families from within BCH as well as nationally and internationally to organize patient recruitment and enrollment in addition to coordinating with referring clinicians.

Neeha Nori
Neeha graduated with a B.A. from Boston University and has been working with the Manton Center since 2016. Neeha works with families from within BCH as well as nationally and internationally to organize patient recruitment and enrollment in addition to coordinating with referring clinicians.

Talia Schwartz
Talia graduated with a B.A. from Wellesley College and has been working with the Manton Center since 2014. Talia works with families from within BCH as well as nationally and internationally to organize patient recruitment and enrollment in addition to coordinating with referring clinicians.

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