The Manton Center | Our Team

Alan Beggs, PhD

Alan H. Beggs, PhD
Director, The Manton Center for Orphan Disease Research                                                                                                                                                                                                       

 

 

 

Pankaj Agrawal, MDPankaj Agrawal, MD, MMSc

Medical Director, Gene Discovery Core

Dr. Agrawal is the Principal Investigator and Medical Director for The Manton Center's Gene Discovery Core. He oversees 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. In addition, Dr. Agrawal also cares for patients in Boston Children's Hospital  Neonatal Intensive Care Unit.

 

 

Catherine Brownstein, MPH, PhD

Catherine Brownstein, PhD 

Scientific Director, Gene Discovery Core

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, 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.

 

 

Jill Madden

Jill Madden, PhD, MSc, CGC 

Project Manager and Genetic Counselor

Jill graduated with a B.S. and Ph.D. from Iowa State University and earned her Master’s Degree in Genetic Counseling from the University of British Columbia in 2018. She has been working with the Manton Center since 2018.  Jill is a project manager of the GDC, overseeing patient enrollment, coordination of genomic sequencing and reanalysis, and investigator-initiated studies.

 

 

Casie Genetti

Casie Genetti, MS, CGC
Project Manager and Genetic Counselor 

 

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.

 

 

Klaus Schmitz-Abe, PhD
Bioinformatician and Data Manager

Dr. Schmitz-Abe graduated from the University of Oxford. He has been working with The Manton Center since 2013. Currently, the main focus of his research is the development of statistical models for the localization, detection, and characterization of the genes that underlie human diseases. He manages the sequencing and genotyping of data from The Manton Center's Gene Discovery Core (GDC), data processing, and whole exome sequencing analysis/reanalysis using his in-house bioinformatics pipeline (“Variant Explorer Pipeline”).

 


Heather Paterson

Research Assistant

Heather graduated with a B.S. from Tulane University and has been working with the Manton Center since 2018.  Heather 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.

 

Melissa Fernandes
Research Assistant

 

Former Manton Members:

Meghan Towne, MS, CGC
Neeharika Nori
Renee Pelletier
Morgan Danowski
Grace VanNoy, MS, CGC
Tina Truong
Talia Schwartz 
Katie Dunn