Projects supported by the innovation centre

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Canadian institutes of health research (cihr) projects

Advancing Technology Innovation Through Discovery
  • Finding of Rare Disease Genes in Canada (FORGE CANADA)

    Project Leader : Dr. Kym Boycott

    Project Co-Leaders : Dr. Jacques Michaud and Dr. Jan Friedman

    Genetic disorders of children are individually rare but collectively frequent, affecting the lives of approximately 500,000 children in Canada. These disorders cause a variety of medical problems including birth defects, intellectual disability, difficulty with growth and organ failure. Most genes that cause these conditions have not yet been found, mainly because gene-discovery studies are difficult to perform when DNA from only a small number of affected children is available. Recently a new technology (called Next Generation Sequencing) has been developed which allows a person's entire genetic code (about 22,000 genes) to be analyzed within a few days at reasonable cost. This new type of DNA sequencing has revolutionized the study of rare genetic diseases because it is now possible to find disease-causing genes using a relatively small number of patients. We have created a large network of Canadian doctors and scientists who will now have access to this powerful technology for their patients. Through this national collaboration we will be able to rapidly identify many genes responsible for genetic disorders that affect children in this country and throughout the world. The Canadian Pediatric Genetic Disorders Sequencing (CPGDS) Consortium ( has 150 members and will ensure that Canada becomes a world leader in this exciting field. The consortium will allow for rapid gene discovery of rare childhood-onset disorders, with immediate and long-term health benefits for Canadian families. Our discoveries will lead to genetic tests that will allow earlier and more precise diagnoses. Better diagnoses will allow Canadian health care teams to reduce or prevent patient complications, to develop tailored treatments, and to provide more accurate reproductive counseling to families.

    Funding Information:

    Fiscal Year Amout
    2010-11 $1,225,000
    2011-12 $500,000
    Total: $1,725,000
    Source: Genome Canada

  • The Canadian Pediatric Cancer Genome Consortium: Translating next-generation sequencing technologies into improved therapies for high-risk childhood cancer

    Project Leader :Dr. Poul Sorensen

    In a project supported by Genome BC, Dr. Poul Sorensen, a Vancouver pediatric pathologist at the BC Cancer Agency/University of British Columbia is leading the team that will explore the genomes (DNA) of four of the most challenging childhood cancers known. Dr. Sorensen and his colleagues in the Canadian Pediatric Cancer Genome Consortium hope to find the link between primary and metastatic tumours using revolutionary genomics technology and a highly skilled consortium of scientists and clinicians. Other researchers participating in this work include: Steven Jones and Marco Marra (Michael Smith Genome Sciences Centre, BC Cancer Agency); Michael D. Taylor, David Malkin, Cynthia Hawkins, and Annie Huang (Hospital for Sick Children, Toronto); Conrad Fernandez (Dalhousie University); Nada Jabado (McGill University); Daniel Sinnett (Universite de Montreal). The team will focus on medulloblastoma (brain cancer), metastatic osteosarcoma (bone cancer), Pediatric high grade glioma, and Diffuse Intrinsic Pontine glioma (two other types of pediatric brain tumours) to uncover genetic abnormalities that direct tumour cells to spread or become resistant to treatment. They will examine and directly compare the genetic signature of each of these diseases in primary tumour cells and tumour cells that have metastasized or relapsed. These studies will produce a first-time view of the tumour genomes in these diseases. This insight not only provides immediate potential for improving tailored therapies for children with these lethal cancers, but will enable the future development of new drugs for patients who otherwise have limited options for treatment.

    Funding Information:

    Fiscal Year Amout
    2010-11 $1,275,000
    Source: Genome Canada