Since 2008, researchers at The Manton Center have worked to understand, diagnose, and treat rare genetic conditions. The Manton Center wants to increase our understanding of these diseases by funding existing research efforts, building connection within the community, and keeping the research patient-focused. The center partnered with Boston Children’s Hospital to help continue their efforts in rare diseases. Ultimately, The Manton Center hopes to achieve four main goals: better understand rare diseases, discover fundamental biological principles, spread their findings among the medical community, and train a new generation of researchers.
The Manton Center is focused on research that will create a better future. They use their funds to support new and experimental research rather than services for diagnosis or treatment of individual patients. Working with doctors and scientists around the world, The Manton Center offers a wide variety of patient resources to help families all around the world.
Programs and Accomplishments
Gene Discovery Core
The Gene Discovery Core (GDC) is a genetic research study that focuses on learning more about rare and undiagnosed genetic conditions. The Manton Center works with patients at Boston Children’s Hospital and around the world to gain a greater understanding about these conditions. The GDC is also a database and repository created to study and store samples and medical/family histories for individuals with rare diseases. Collecting this information serves as a valuable resource for patients and further research.
Endowed Scholars Program
The Endowed Scholars Program was established with the intent of supporting early career development of promising junior faculty at Boston Children’s Hospital (specifically in the area of rare disease research). The award supports the scholar’s research efforts for three years.
The Manton Center’s Innovation Fund offers seed money to innovative long-term projects with the hope that they will eventually become eligible for government and non-governmental grant support. The Innovation Fund encourages high-risk and high-yielding studies that utilize new and recent technological advances to address on-going problems.
Gene Discovery Core patient enrollment and research have reached over 2000 families that span over all 50 states and 53 countries.
Researchers and Staff
Alan H. Beggs, PhD
Dr. Alan H. Beggs is the Director of the Manton Center for Orphan Disease Research at Boston Children’s Hospital. After his undergraduate at Cornell University, he received a PhD in Human Genetics at Johns Hopkins University. Over the years, Dr. Beggs has used his expertise in human molecular genetics to study a wide variety of disorders including muscular dystrophies, cardiac arrhythmias, developmental brainstem defects, and sudden infant death syndrome. He is also a member of several scientific advisory boards and boards of directors for nonprofit and commercial entities.
Pankaj Argawal, MD, MMSc
Dr. Pankaj Argawal received his MD and did his Pediatric Residency in India. Following that, he worked as a Senior Registrar in Melbourne, Australia. Next, he completed his fellowship at the Boston Children’s Hospital and got a Master’s in Medical Science from Harvard Medical School. He is now the Medical Director of the Gene Discovery Core at the Manton Center and an Associate Professor of Pediatrics at Harvard Medical School. Dr. Argawal has been funded by the NIH and has received several foundation grants.
Catherine Brownstein, MPH, PhD
Dr. Catherine Brownstein is an Assistant Professor of Pediatrics at Harvard Medical School, a Research Associate in Genetics and Genomics at Boston Children’s Hospital, and the Assistant Director of the Molecular Genomics Core Facility. With over 10 years of experience in gene discovery, Dr. Brownstein joined Boston Children’s Hospital in 2011.
Contact The Manton Center
Email: [email protected]
300 Longwood Ave, Boston, MA 02115
To learn more about donating please contact
Senior Officer, Foundation Relations & Research Initiatives
Tel: 216-798-2723 | Boston Children’s Hospital Trust
401 Park Drive, Suite 602 | Boston, MA 02215
Email: [email protected]