Manton Center for Orphan Disease Research

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. 


Current Manton Center News:

A new collaboration driving discovery at The Manton Center

The Manton Center is teaming up with Inspire, a social network for health; Pfizer; and Citizen Genetics, a genetics research company, to learn more about how genetics contributes to health conditions and how improving our understanding of this underlying mechanism can lead to improved treatments. Read more here about this exciting collaboration known as Patient Forward Access to Clinical and Technological Research (PFACTR).

Personalized Medicine in Practice

Dr. Yu and Mila (both pictured below) advance the field of personalized medicine. Click below to learn more.

Tim and Mila smile for the camera with mom

Mila’s hidden mutation and a drug just for her:
Manton Center Investigator Dr. Timothy Yu and the development of personalized medicine

About the Manton Center

Founded in 2008, the Manton Center is one of the first centers in the world solely devoted to the study of rare diseases. The Center hopes to increase our 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 Center facilitates the discovery and development of more effective diagnostic pathways and therapies for rare or unknown conditions.  

Children's 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.