Working Group Members: Jason Karamchandani, Bernard Brais, Rashmi Kothary, Jodi Warman Chardon, Hanns Lochmüller, Homira Osman, Gerald Pfeffer, Élise Duchesne
Biobanks are organized collections of biomaterial samples available for research. In rare diseases like neuromuscular disease, the number of available biosamples is often very limited, which hinders research into disease pathogenesis and mechanisms and therapy development. Making rare disease blood, DNA, urine and tissue samples accessible for reuse is thus particularly important, as each sample is of great value.
While several Canadian institutions maintain biobanks collecting samples of NMD patients among other pathologies, Canada still lacks a coordinated effort to systematically collect, process, store and provide NMD samples for research. Canadian NMD patients, who are typically highly willing to donate samples for research into their condition, often don’t have the opportunity to do so because of the lack of infrastructure, information and training. NMD4C will create a virtual Canadian NMD biobank, with a central catalogue linked to international initiatives such as EuroBioBank.
Read about the importance of international networks of biobanks here.
While the virtual biobank is in development, the NMD4C biobanking group has identified eight Canadian neuromuscular biobanks that collect and prepare a variety of samples covering a range of neuromuscular diseases. Each of these sites has kindly provided information about what samples they collect and the conditions and policies for researchers to access them, which you can find listed on our interactive map.
To support easy access to samples by the researchers who need them, the network will develop SOPs, ethics guidance and data linkage tools according to the FAIR principles, in particular linking to phenotypic data in the CNDR and making use of standardized ontologies such as the Human Phenotype Ontology. Canadian NMD researchers will thus have improved access to high-quality biomaterials from Canadian NMD patients for translation and back-translation.
- Central catalogue for Canadian virtual NMD biobank
- SOPs and ethics guidance for sample and data collection