The Manton Center for Orphan Disease Research
Announcing Partnership with Shire
We are proud to announce a new collaboration program between Shire and Boston Children’s, which will provide funding and additional resources to support development of therapeutics for rare diseases. This collaboration will hopefully lead to new insights and advances for the indiviudals with orphan disease we serve.
The Manton Center 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 was 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 invited 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.
See the CLARITY Challenge Launch Press Release
The challenge is now complete and winners were announced! Check out http://genes.childrenshospital.org for more information about the challenge and it's outcomes.
See the CLARITY Challenge Completion Press Release
Read even more about the CLARITY Challenge's outcomes in the coverage by Vector in the artivce Using DNA Sequencing in Medicine: The World Starts to Figure Out How
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.