The 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. 

Manton Center News:

Congratulations to the 2021 Manton Center Fellowship and Pilot Project Awardees!


  • Dr. Hyunyong Koh, MD, PhD, for the proposal titled "Modeling and drug screening of rare genetic epilepsies"
  • Dr. Kurt Whittemore, PhD, for the proposal titled "Correction of IL-10 pathway to correct VEO-IBD in a mouse model"

Pilot projects:

  • Dr. Olaf Bodamer, MD, PhD, and Dr. Youngsook Lucy Jung, PhD, with proposed project titled "Characterizing chromatin modification in Kabuki syndrome"
  • Dr. Darius Ebrahimi-Fakhari, MD, PhD, and Mustafa Sahin, MD, PhD, with proposed project titled "Functional genomic screen in neuronal model of hereditary spastic paraplegia"


Check out a new podcast featuring Dr. Beggs that explores the role of whole-genome sequencing in rare disease diagnosis

The Manton Center Director, Dr. Alan Beggs, join colleagues from Rady Children's Hospital, Variantyx, and Psomagen to discuss the impact of genome sequencing on the diagnostic odyssey experienced by many patients with rare diseases. Listen here.


Be sure to also check out our News and News Archive pages for more great stories!

Manton Center genetic counselors, research assistants, and Northeastern University co-op students now work as a team remotely.

The Manton Center went remote! Pictured above are the genetic counselors, research assistants, and Northeastern University co-op students who now work as a team from a distance to enroll families and manage the study virtually.


The Manton Center transitioned to a remote-work environment

Despite global disruptions introduced by the pandemic, the Manton Center seamlessly transitioned to a mostly remote environment to continue our research and discovery efforts. Several months before Boston Children’s Hospital implemented its e-work policies, the Manton Center Gene Discovery Core (GDC) launched its electronic consenting protocol, facilitating remote activities. With the help of the Information Services Department, participants can now access, complete, and sign the consent form online. This service not only helped streamline the consenting process, but also enabled the GDC to rapidly enroll new cases during the height of the pandemic. Other highlights from the year include funding seven projects related to rare disease research at Boston Children's, enrolling the 2,000th family into the GDC study, and leading efforts on several publications that have expanded knowledge about rare diseases and the methods used to find diagnoses.

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.


This page was last updated November 26, 2020.