The Children’s Rare Disease Collaborative (CRDC), established at in 2018, is a Boston Children’s Hospital-wide initiative that involves over 100 physician–scientists as well as patient families. The collaborative has been shaped by the leadership of Drs. Piotr Sliz and Shira Rockowitz, with support from a handful of faculty leaders including Ann Poduri, Alan Beggs (The Manton Center for Orphan Disease Research), and Janet Chou, and others. The CRDC is dedicated to identifying the genetic causes of rare diseases, translating discoveries into research-informed care, and providing families with genetic diagnoses that enable personalized treatments, including precision medicine and targeted therapies. For the full history and description of the projects, please see the following two publications (npj Genomic Medicine 2020, npj Genomic Medicine 2024). Organisation: Boston Children's Hospital, Boston, MA, USA Study webpage: https://research.childrenshospital.org/research-units/childrens-rare-disease-collaborative Publication doi: 10.1038/s41525-020-0137-0, 10.1038/s41525-024-00441-9
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Boston Children's Hospital Children's Rare Disease Collaborative is published on HiFi Solves.