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:

Our latest publication!  Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases

In collaboration with Fabric Genomics and Rady Children's Institute for Genomic Medicine, The Manton Center is helping to improve the rare disease diagnostic process with the help of artificial intelligence.  Following whole-genome or whole-exome sequencing, this technology helped generate a very short list of candidate genes/disorders as possible diagnoses, potentially decreasing cost and expediting case review. Read more about this study and findings here

 

Using natural language processing to improve the efficiency of diagnosis in rare disease

By leveraging our combined expertise in genomics and data sciences, our ongoing collaboration with Alexion Pharmaceuticals, Inc. aims to improve technologies to lead to more rapid diagnoses. You can read about our latest advancements in the publication just released - A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders

 

New gene discovery by the GDC!

The Manton Center GDC led a publication that characterizes a new rare disease caused by the gene CLCN3. Learn more about the gene and neurodevelopmental condition in the recently released paper - Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders

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.