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About the CRDC | Overview

Ten million children are affected by a rare disease with a genetic cause. Yet, treatments for rare diseases are limited due to the unique challenges of rare disease research. Pediatric patients affected by the same rare disease (cohorts) are few in number and tend to be geographically widely distributed. So, finding a way to combine small cohorts is extremely valuable.


The CRDC is an institution-wide initiative to better understand the molecular abnormalities associated with rare disease phenotypes. We envision this will allow more rapid diagnosis, in some cases personalized-treatment strategies with current medications, and identification of new targets that will facilitate development of new therapies for children with rare disease.

David Williams, MD, Boston Children's Hospital Chief of the Division of Hematology/Oncology


We have developed a broadly sharable database and have engaged several external partners, including GeneDx, Clinithink, Pacific BiosciencesNovogene, TriNetX, Seqr

CRDC Investigators collaborate with other researchers via Matchmaker Exchange, the Genomic Information Commons, Human Genetics Amplifier (HuGeAMP)


Within its first year, the CRDC launched 15 studies of rare pediatric-onset Mendelian diseases, including epilepsy and inflammatory bowel disease (IBD). Together, these studies enrolled 2,441 participants and collected data from medical records and research surveys.

Today, over 10,000 participants have enrolled in more than 52 pediatric rare disease cohorts. Whole exome sequencing, whole genome sequencing, RNA sequencing, long read whole genome sequencing, proteomics and single cell RNA sequencing data has been collected.



CRDC Implementation

CRDC Steering Committee

*Members of the CRDC Steering Committee also participate in the other committees below

CRDC Executive Subcommittee*

CRDC Computational and Analytics Subcommittee*


CRDC Cohort Selection Subcommittee*

Clinical Genomic Data Subcommittee*