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Canadian Molecular Cytogenetics Platform

Providing an infrastructure to support Canadian research to develop new molecular cytogenetic technologies, evaluate the clinical utility & cost-effectiveness of these technologies and assess their usefulness as research tools.

Project Leaders Jan Friedman
Project Co-Investigators Marco Marra , Oliver Cohen, Regen Drouin, Bartha Knoppers, Sabine Mai, Guy Rouleau, Jeremy Squire, Rosanna Weksberg
Involved Organizations
University of British Columbia
Canada's Michael Smith Genome Sciences Centre
BC Cancer Agency
University of Montreal
Funding Agencies
Canadian Foundation for Innovation



Mental retardation (MR) affects more than 300,000 Canadians with a life-long severe disability. The cause of most mental retardation remains unknown, but abnormalities of the chromosomes, the packages of genes within cells, are the most frequent recognized cause. Children with MR of unknown cause may be subjected to repeated medical testing in an effort to determine the cause, and their families often find it difficult to obtain appropriate educational or social support. Moreover, unaffected relatives do know know if the risk for reoccurrence of mental retardation is increased in their future children and cannot use prenatal diagnosis to identify affected pregnancies.

The Canadian Molecular Cytogenetics Platform is an infrastructural partnership of 13 major research facilities. The platform includes a system for collection of clinical research data and specimens from 18 centres in 7 provinces;

  • National database of clinical and cytogenetic research data on individuals who have undergone cytogenetic testing (Hôpital Ste-Justine);
  • National cell and DNA bank (McGill University);
  • Informatics Governance Facility that will enable nationwide exchange of clinical research data and specimens in an appropriate Canadian legal, ethical and social context (Université de Montreal);
  • Health Technology Assessment Facility (University of Alberta);
  • Statistical Support Facility (University of BC);
  • Core technology centres that will provide the most powerful molecular cytogenetic tools available (BC Cancer Research Centre, BC Cancer Institute for Children’s and Women’s Health, London Heath Sciences Centre, Manitoba Institute for Cell Biology, University of Sherbrooke, University of Toronto and North York General Hospital).

In addition, an international partnership with Université Josph fourner (Grenoble, France) will implement a state-of-the –art molecular cytogenetic database system throughout Canada. The platform is administered through the University of British Columbia and directed by a national Steering Committee.

Research will be undertaking by this unique partnership that unites almost all leading clinical investigators and basic scientists in this field in Canada. Initial projects include:

  • High resolution Array Genomic Hybridization (AGH) screening of children with idiopathic mental retardation for submicroscopic chromosomal abnormalities.
  • Phenotypic, cytogenetic, and molecular correlation in patients with small constitutional rearrangements
  • Analysis of chromatin alterations in constitutional chromosomal abnormalities
  • Assessment of the sensitivity, specificity and clinical utility for prenatal diagnosis of uncultured amniotic fluid cells of six state-of-the-art molecular cytogenetic techniques – Microarray (AGH), Primed IN Situ labelling (PRINS), Multiplex Amplifiable Probe Hybridization (MAPH), Multiplex Ligation-dependent Probe Amplification (MLPA), Quantitative real-time Polymerase Chain Reaction (Q-PCR), and Fibre Optic Nucleic Acid (FONA) biosensor.
  • Feasibility of prenatal diagnosis using fetal cells in the maternal blood.
  • Bioinformatic comparison of constitutional and neoplastic genomic disease.
  • Assessment of genomic instability in patients with inherited predispositions to chromosomal breakage.

Recent molecular genetic and genomic advances are revolutionizing cytogenetics, the study of chromosomes.

Contact Information

For all project related inquires please contact us.

Robyn Roscoe, Project Team Leader
Genome Sciences Centre, BC Cancer Agency
Phone: 604-707-5963 x 5436
Fax: 604-876-3561