The Manton Center for Orphan Disease Research
Announcing Sequencing Pilot
This week, Boston's Children's Hospital announced the launch of the new sequencing pilot project for clinical or research use. This initiative will allow for Children's Investigators with approved IRB protocols to submit samples for whole genome sequencing or exome sequencing. Please see the application for more details. Contact Catherine Brownstein with questions.
Our Vision
The Manton Center for Orphan Disease Research at Children's Hospital Boston was created to develop new methods for understanding, diagnosing and treating unusual diseases and to apply this knowledge to make fundamental scientific advances with broad implications for human health. To reach these goals, 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.
CLARITY Challenge Announced |
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The Manton Center has partnered with other Children's Hospital Investigators to form the CLARITY Challenge (Children’s Leadership Award for the Reliable Interpretation and appropriate Transmission of Your genomic information). The goal of the challenge is to identify best methods and practices for improving the reliability and accuracy of the genomics-to-clinic pipeline – spanning sequencing, analysis, interpretation and reporting – to provide the most meaningful results to patients and their families. The CLARITY Challenge will invite researchers from around the world to analyze the whole genome sequences of three families who are suspected to have a genetic basis for their conditions. Read more here CLARITY Challenge Press Release |
The Manton Center Goals
The Manton Center is a home for physicians and scientists at Children's who share a common vision. 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 spur interest and support for orphan disease research and care
