McMaster University

McMaster University

Canadian Pediatric Genetic Disorders Sequencing Consortium

A new and timely joint collaborative program developed by Genome Canada and the Canadian Institutes of Health Research; 'Advancing Technology Innovation through Discovery', is a one-year program that will focus on the rapid identification of genes causing pediatric disorders using the latest genomic technologies available at the Genome Canada funded Science & Technology Innovation Centres. The program has three stages: Stage 1: Establishment of a National Disease Consortium; Stage 2: Application of next-generation sequencing technologies; Stage 3: Validation of proposed mutations.

A Development Workshop was held on July 25-27, 2010; the outcome was the establishment of the 'Canadian Pediatric Genetic Disorders Sequencing Consortium'. The CPGDS Consortium is a pan-Canadian team of clinicians, clinical investigators and scientists interested in the application of new genomic technologies to rare pediatric single-gene disorders. The goal of the Consortium is to identify new genes and pathways responsible for human disease and translate this knowledge to improved patient care. The Consortium can provide funding, infrastructure and expertise for the collection of patients, genotyping, next-generation sequencing, bioinformatic analysis and validation studies. Information on how to become a member of the Consortium can be found at the URL below.

This is the first call for proposals of disorders for study. The names and/or clinical features of submitted disorders will be circulated to members of the Consortium in an attempt to identify additional patients for sequencing or subsequent validation. Disorders should be submitted by September 15, 2010, for consideration for the first round of sequencing, to the Consortium Clinical Coordinator, Janet Marcadier (

Complete details and all forms are available at the following website until August 26, 2010: After August 25 the information will be available at

This program is a unique opportunity for the advancement of Medical Genetics in Canada

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