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.

Quebec Myotonic Dystrophy RegistryA 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 FacilityPreparation of fibroblast cell linesJack Puymirat
iPS FacilityProduction of induced-pluripotent stem (iPS) cell lines, and training in the technologyEric Shoubridge
Disease CohortsCollection of autism, birth defects, mental retardation, etc. samplesJacques Michaud
BioBankPreparation of blood DNA, EBV-transformation and storage of lymphoblastoid cell lines, access to >35,000 samplesGuy Rouleau