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sector_ico_Health_trans Human Health

Synergizing -omics to discover treatable intellectual disabilities

  • Project Leaders: Clara van Karnebeek, Sylvia Stockler, Wyeth Wasserman
  • Institutions: University of British Columbia (UBC)
  • Budget: $400000
  • Program/Competition: Strategic Opportunities Fund
  • Genome Centre(s): Genome British Columbia
  • Fiscal Year: 2013
  • Status: Closed

Intellectual disability (ID) is a lifelong, debilitating condition affecting 2.5% of children and adults worldwide. Most IDs are of genetic origin, but causal variants are identified only in a minority of patients. As one of the least treatable conditions, genetic ID places a huge social and financial burden on families and society. This project aims to demonstrate the capacity of a combined metabolomics-genomics approach for efficient discovery of intellectual disability (ID) genes and an accelerated clinical diagnosis of potentially treatable IDs. By the end of the project, they provided a diagnosis to 22 out of the 25 enrolled families (88%), and for 4 families the diagnosis allowed the project to devise a treatment. They published 9 peer-reviewed papers with at least 4 more in preparation, including a manuscript in press in the New England Journal of Medicine (scientific journal with the highest impact factor). They also leveraged over $4.2M funding from multiple funding sources including CIHR, MSFHR, and Mining for Miracles. The current study and process laid the foundation of the CAUSES clinic, which is established in 2015 and supported by BC Children’s Hospital Foundation and Genome BC.