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Projects supported by the innovation centre

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Genome canada projects

2012 Personnalized Health Competition
  • Personalized risk stratification for the prevention and early detection of breast cancer

    Principal Investigators :
    Jacques Simard, PhD - Université Laval
    Bartha Maria Knoppers, PhD - Centre of Genomics and Policy (CGP), McGill University

    Towards an optimal breast cancer prevention and treatment strategy

    Each year, over 22,000 Canadian women are diagnosed with breast cancer, a disease that will claim the lives of 5,000 of them. Right now, routine mammography is used to screen for breast cancer in women over the age of 50, even though nearly one-quarter of the cases occur in women 35 to 49.

    The project aims to develop a genomic tool for breast cancer risk management that could help optimize prevention, improve prognosis and treatment, and reduce costs to the healthcare system.

    Through involvement with the largest international consortium on the study of breast cancer, the project will help broaden existing knowledge in order to provide better risk stratification tools, fine tune intervention strategies and offer the population more effective tools.

    Source: Genome Canada

  • Personalized medicine in the treatment of epilepsy

    Principal Investigators :
    Patrick Cossette, MD, PhD, Jacques Michaud, MD, PhD and Berge Minassian, MD - Centre hospitalier universitaire de l'Université de Montréal (CHUM)

    New diagnostic test for epilepsy gives hope to patients with drug-resistant form of the disease

    Epilepsy affects approximately three percent of Canadians. Unfortunately anti-epileptic drugs are ineffective in about one-third of patients, who have a drug-resistant form of the disease. This form of epilepsy is extremely expensive to treat, with costs reaching an estimated $1.7 billion in Canada in 2012.

    The goal of this project is to develop a pharmacogenomic tool for the more accurate diagnosis of various forms of epilepsy, particularly those that are drug resistant. This decision-support tool would improve the lives of patients by giving them access to diagnostic information in a timelier manner, aiding their decision about treatment options, and helping to prevent cognitive decline in children. Introducing this tool to the Canadian health care system represents potential savings of nearly $12 million per year.

    Source: Genome Canada

  • Personalized medicine strategies for molecular diagnostics and targeted therapeutics of cardiovascular diseases

    Principal Investigators :
    Jean-Claude Tardif, MD and Marie-Pierre Dubé, PhD - Montreal Heart Institute (MHI)

    Pharmacogenomic tests for cardiovascular diseases: Innovation for the health care system

    In 2010, 80,000 Canadians died from cardiovascular diseases (CVD), which represents 35 percent of all deaths in the country. At the moment, 1.3 million Canadians suffer from CVD, with associated costs reaching $22.2 billion a year - the highest proportion for the Canadian healthcare system.

    The goal of this project is to develop pharmacogenomic tests that would render more effective the management of patients with CVD. These decision-support tools developed for health managers would present many benefits:

    • Improved treatments, with reduced negative effects
    • Greater patient confidence in the treatment and in turn better compliance
    • Reduced costs to the Canadian health care system
    • Better market access for cardiovascular drugs and diagnostic tests

    These tests will have an immediate, lasting impact on the economic front and in clinical practice, both here and around the world.

    Source: Genome Canada

  • IBD Genomic Medicine Consortium (iGenoMed)

    Principal Investigators :
    John D. Rioux, MD and Alain Bitton, MD - Montreal Heart Institute(MHI)

    Dawn of a new era for patients with inflammatory bowel diseases as personalized therapeutic approach may soon be here

    With its 230,000 reported cases, Canada has one of the world's highest rates of inflammatory bowel diseases (IBD), such as Crohn's and ulcerative colitis. A variety of drugs currently exist to treat IBD, but, at the moment, doctors have no way of knowing which drug will work best for which patient.

    Dr. Rioux and his team are working on tests that would enable doctors to match the right drug with the right patient, avoiding the often costly and ineffective trial-and-error approach of selecting a drug. In addition to greatly improving the quality of life of those affected, this tool, once implemented, could help save the health care system more than $10 million a year in hospitalization and surgical costs.

    Source: Genome Canada

  • Biomarkers for pediatric glioblastoma through genomics and epigenomics

    Principal Investigators :
    Nada Jabado, MD, PhD - McGill University Health Centre (MUHC)
    Jacek Majewski, PhD et Tomi Pastinen, MD, PhD - McGill University and Genome Quebec Innovation Center

    New therapy for pediatric glioblastoma (brain cancer) could finally see the light of day

    Each year in Canada, 200 children and 300 young people are affected by glioblastoma. Unfortunately, with existing treatment options, 90 percent of patients will die within three years. A better understanding of the mutations involved in this form of cancer should help us improve the survival rate of these young people.

    The goal of this project is to develop and implement a diagnostic test for clinical trials that will stratify patients with glioblastomas. The test will make it possible to put in place a therapeutic strategy tailored to the mutations involved. This unprecedented approach will lead to better targeted, more effective treatments.

    Source: Genome Canada

  • Enhanced CARE for RARE Genetic Diseases in Canada

    Principal Investigators :
    Kym Boycott, MD - Children's Hospital of Eastern Ontario (CHEO)
    Jacek Majewski, PhD - McGill University and Genome Quebec Innovation Center
    Alex MacKenzie, MD - Children's Hospital of Eastern Ontario (CHEO)

    Enhanced CARE for RARE Genetic Diseases in Canada

    The human genome is made up of approximately 22,000 functional units known as genes. Mutations in these genes not only cause well recognized disorders such as muscular dystrophy and cystic fibrosis, but also thousands of other rare but nonetheless serious diseases impacting hundreds of thousands of Canadians (www.raredisorders.ca). Many single-gene disorders are undiagnosed and most of these frequently serious conditions are currently untreatable; together they represent one of the greatest unmet medical challenges of the 21st century. CARE for RARE is a collaborative pan-Canadian project configured to improve the diagnosis and treatment of rare diseases.

    We will use new powerful DNA sequencing methods to provide a molecular diagnosis to over 500 patients and discover 60 new rare disease genes. Working with key provincial stake-holders we will also take steps to move these sequencing methods from the research realm to general clinical use. The identification of new rare disease genes provides useful biological information, which is often significant in our understanding of human health. Most importantly, making a clear DNA-based diagnosis has direct and immediate clinical impact while saving health care dollars; invasive diagnostic investigations will cease, the patients prognosis and clinical management going forward will frequently become clearer, ineffectual treatments can be safely halted, a definitive treatment may be available, and a precise prediction of the chance of the disease happening in future offspring can be provided.

    Ultimately, the hope for any genetic disorder is, where possible and in addition to an accurate diagnosis, treatment. We will thus also initiate a low cost and rapid computer and laboratory experiment-based exploration of therapies initially starting with approximately 100 rare disorders. We will test drugs that are currently in clinical use and expect that our analysis will identify at least one that will be ready for clinical evaluation by the project's end date. Although this may appear to be a small number, the most important outcome will be to validate this approach for the many hundreds of other rare diseases that are currently untreatable. We will also integrate with national and international networks to enable rapid global dissemination of our research findings and approaches, thereby contributing to the global understanding and diagnosis of rare disorders. The personalized diagnostic and therapeutic approaches we propose here for rare diseases will help consolidate Canada's position as a leader in this critical realm.

    Source: Genome Canada