GENE DISCOVERY

Care4Rare Consortium has made a substantial impact in rare disease gene discovery; some of the gene discovery highlights include:

 
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Recruitment into FORGE/CARE4RARE Gene Discovery Cohorts is now finished. We will continue studying all unsolved projects in C4R - Solve. To learn more about our current gene discovery projects, click the links below:  

GENOMICS4RD

C4R - Solve

Genomics4RD is the first pan-Canadian rare disease data repository and analysis platform and a major portion of C4R - Solve. Genomics4RD will facilitate precision medicine, harmonize data collection and foster data sharing on an international scale.

C4R - Solve will optimize the delivery of clinical genome wide sequencing and use multi-omic approaches, global data-sharing and new bioinformatics to deliver innovative diagnostic care for rare genetic diseases. 


PUBLICATIONS

Publication Tally

recent publication highlights:

NALCN Case Report

Novel Disease - WASF1

Novel Disease - ZPR1

Ultra-rare COQ9 Case Report

 

For a comprehensive list of Care4Rare publications please visit here.


Watch Dr. Boycott and Dr. Sawyer discuss one of our papers describing patients with ataxia (a movement disorder):