Patient Registries and Biobanks
Strategic theme directors :
Nicolas Duprés, M.D., M.Sc., FRCP(C), CHU de Québec - Université Laval
Geneviève Bernard, MD, MSc, FRCPc, McGill University - Hôpital de Montréal pour enfants
Eric Shoubridge, Ph.D., McGill University - Institut et Hôpital neurologiques de Montréal
Research on genetic diseases relies on the availability of biomaterials (DNA, cells and tissue), while clinical studies rely on the availability of suitable patient cohorts. Through past and ongoing RMGA-funded initiatives, several biobanks, biocatalogs of human biological materials and patient registries have been developed. These resources have greatly facilitated gene identification, understanding the pathogenesis of different genetic disorders, epidemiological studies, genotype/phenotype correlations and clinical trials. The RMGA supports different Platforms that offer Services to RMGA members and the scientific community.
| PLATFORMS | SERVICES | CONTACT |
| Quebec Myotonic Dystrophy Registry | A website that offers information about myotonic dystrophy (Steinert disease), the current state of research, associations and support groups as well as a unique portal giving researchers access to an international registry of available human research material. | Jack Puymirat |
| Fibroblast Preparation Facility | Preparation of fibroblast cell lines | Jack Puymirat |
| iPS Facility | Production of induced-pluripotent stem (iPS) cell lines, and training in the technology | Eric Shoubridge |
| Disease Cohorts | Collection of autism, birth defects, mental retardation, etc. samples | Jacques Michaud |
| BioBank | Preparation of blood DNA, EBV-transformation and storage of lymphoblastoid cell lines, access to >35,000 samples | Guy Rouleau |