Genome Canada, Canada


  • EpigenCentral: Consolidated epigenetic landscape for congenital, developmental and childhood disorders (website)
  • Harmonising phenomics information for a better interoperability in the RD field (website)
  • Improving diagnosis and treatment of catecholaminergic polymorphic ventricular tachycardia: integrating clinical and basic science (website)
  • Netherton Syndrome: From mechanisms to therapeutics (website)
  • RNA‐seq in patient derived ex‐vivo models: genetic diagnostics beyond whole exomes (website)


  • Canadian ‘Rare Diseases: Models & Mechanisms” Network (RDMM) (website)


  • Biomarkers for Pediatric Glioblastoma through Genomics and Epigenomics (website)
  • Development of a unified Canadian clinical genomic database as a community resource for standardizing and sharing genetic interpretations (website)
  • Enhanced CARE for RARE Genetic Diseases in Canada (website)


  • FORGE – Finding of Rare Disease Genes in Canada (website)
  • Orphan Disease: Identifying Genes and Novel Therapies to Enhance Treatment (IGNITE) (website)
  • The ICHANGE (International CHildhood Astrocytomas iNtegrated Genomics and Epigenomics) Consortium (website)