The Manton Center for Orphan Disease Research at Boston Children's Hospital was created to develop new methods for understanding, diagnosing, and treating rare genetic conditions and to apply this knowledge to make fundamental scientific advances with broad implications for human health.
Manton Center News
The Medical Director of the Manton Center Gene Discovery Core, Pankaj Agrawal, MD, is transitioning to exciting new positions as Chief of Neonatology at the University of Miami Jackson Health, Chair of Project Newborn, and Professor of Pediatrics and Genetics at the University of Miami. The Manton Center staff and participants extend a big thank you to Dr. Agrawal for all his time and dedication over the last several years. We all greatly appreciate his contributions to rare disease research, which has led to countless diagnoses and improved our understanding of rare genetic conditions. Dr. Agrawal will continue to work closely with The Manton Center while he takes this next step in his career. We wish you the best, Dr. Agrawal!
We are excited to announce that stepping into the role of Medical Director for the Gene Discovery Core will be Monica Wojcik, MD. With several close collaborations already ongoing with Dr. Wojcik, we are thrilled to add her to the Manton Center leadership team. In addition to her research activities focusing on rare disease diagnosis in the newborn period, Dr. Wojcik is also an attending neonatologist in the Division of Newborn Medicine and the Newborn Medicine Medical Director of the Maternal Fetal Care Center at Boston Children’s Hospital and Assistant Professor of Pediatrics at Harvard Medical School.
The latest GDC publication: We found the second variant in two undiagnosed patients presumed to have recessive conditions
By reanalyzing clinical exome data, we were able to help diagnose two patients who were thought to have a recessive genetic condition. Their initial genetic testing did not find both genetic variants needed to provide the families with a complete diagnosis. At this point, the families were enrolled and their genetic data was obtained by our study. By re-processing and reviewing the exome data, we were able to find both variants and provide the families with the full diagnosis. Read more about these two cases in our latest publication in the European Journal of Human Genetics.
2023 Department of Pediatrics Grand Rounds: Manton Center Lecture
For this year’s Manton Center Lecture at the Department of Pediatrics Grand Rounds, we hosted Melissa Wassstein, MD, who is Chief of the Division of Pediatric Genetic Medicine at The Children's Hospital at Montefiore and a Professor of Pediatrics and Genetics at The University Hospital for Albert Einstein College of Medicine
Dr. Wasserstein delivered a fantastic talk on the evolution and intricacies of newborn screening, including her project ScreenPlus, which aims to screen 175,000 babies at nine hospitals in New York using a novel, multi-tiered screening platform to improve accuracy. ScreenPlus will follow screen positive children over time, referring for treatment or clinical trial, when indicated, as well as study important ethical issues by inviting ScreenPlus parent(s) to participate in a series of surveys and interviews.
New gene discovery by the GDC!
The Manton Center GDC led a publication that describes the rare neurodevelopmental condition caused by the gene EIF4A2. Learn more about this study, condition, and gene in the paper: Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy
Be sure to also check out our News and News Archive pages for more great stories!
About The Manton Center
Founded in 2008, the Manton Center was one of the first centers in the world solely devoted to the study of rare diseases. The Manton Center hopes to increase scientific knowledge about rare diseases through supporting patient-focused research, building collaborations within the rare disease community, and funding existing research efforts focused on rare diseases. Through the various research projects, funding and awards, and outreach efforts, The Manton Center facilitates the discovery and development of more effective diagnostic pathways and therapies for rare or unknown conditions.
Boston Children's Hospital joined in a partnership with The Manton Foundation to create a center devoted to understanding "orphan diseases" - genetic syndromes, immune system problems, errors of metabolism, neuromuscular disorders and other little-noticed but scientifically important disease processes. In our center, experts committed to answering critical questions posed by puzzling and difficult diseases can collaborate, multiplying the impact of key medical discoveries and helping children and families facing profound medical challenges.
A rare, or “orphan” disease is defined as a disease or disorder that affects less than 200,000 people in the United States at any given time. However, the word rare seems somewhat unfitting when we realize that 30 million people in the U.S. are affected by a rare disease. While many people live with these rare or unknown conditions, a lack of scientific knowledge about their underlying causes can often lead patients through a journey complicated by misdiagnosis, poor treatment options, and lack of funding for research and advocacy.
The Manton Center Goals
The Manton Center is a virtual center for clinicians and scientists at Boston Children's Hospital who share a common vision of helping families by improving our understanding and awareness for rare diseases. The goals of this collaboration are to:
- Unlock the mysteries of orphan diseases in order to develop better diagnostic tests and design new treatments and cures.
- Discover fundamental biological principles that have broad applications and can lead to advances in our understanding of common diseases such as cancer, heart disease, diabetes, and other major health problems.
- Train a new generation of investigators who will infuse creative energy into the battle against orphan diseases.
- Disseminate The Manton Center's findings among lay and medical/scientific communities locally, nationally, and globally to enhance interest and support for orphan disease research and care.