The Manton Center Staff

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 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 the 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

Dr. Brownstein forms and maintains strong collaborative partnerships with other research teams and external partners.  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 work focuses on advancing genomic sequencing and analysis through openness and pre-competitive data sharing.
 

Jill Madden

Jill Madden, PhD, MSc, CGC 

Project Manager and Genetic Counselor

Dr. Madden 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.
 

Timothy Yu, MD, PhD

Timothy Yu, MD, PhD
Molecular Therapy Development

Dr. Yu's research laboratory pioneers the development of personalized molecular therapies for rare and orphan diseases.

 

 

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
Melissa graduated with a B.S. from Northeastern University and has been working with the Manton Center since 2019.  Melissa 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.

Former Manton Members

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