Genome Canada’s 2017 Large-Scale Applied Research Project (LSARP) Competition will support six innovative projects led or co-led by investigators at BC Children’s Hospital, an agency of the Provincial Health Services Authority, including:

Care4Rare Canada: Harnessing multi-omics to deliver innovative diagnostic care for rare genetic diseases in Canada (C4R-SOLVE)

“For many patients with a rare disease, diagnosis is a years-long odyssey involving visits to multiple specialists, invasive testing and fruitless or missed treatments. The C4R-Solve Project will increase access to state-of-the-art genomic and other innovative ‘omics’ testing, giving patients and families with rare diseases long-awaited answers and helping doctors provide the best possible care,” said Dr. Clara van Karnebeek, Investigator, BC Children's; Principal Investigator, Centre for Molecular Medicine and Therapeutics; Affiliate Associate Professor, Department of Pediatrics, UBC.

Over one million Canadians suffer from a rare disease and in one-third of these cases, the underlying genetic cause of the illness remains unknown.  The C4R-Solve Project will increase access to state-of-the-art genomic sequencing and other “omics” technologies, which explore how the different molecules that make up cells operate and interact.

Through these efforts, the C4R-Solve Project will speed diagnosis for Canadians with suspected rare genetic diseases and save patients from unnecessary tests and ineffective treatments.

The C4R-SOLVE team will work with provincial ministries of health to integrate genomic sequencing into the clinical care of patients with rare disease and build infrastructure and tools to improve rare disease diagnosis and advance the understanding of the underlying mechanisms of these conditions worldwide. C4R-Solve will more than double the capacity to diagnose rare diseases in Canada, improving care for patients by tailoring management to their underlying condition, providing new insights into rare conditions and saving at least $28-million a year in unnecessary health care spending. 

Dr. van Karnebeek is the lead for this project in British Columbia along with Dr. Anna Lehman, BC Children’s Hospital and UBC, and Dr. Sara Mostafavi, BC Children’s Hospital and UBC. Dr. Kym Boycott, Children’s Hospital of Eastern Ontario (CHEO) and University of Ottawa, leads this national project along with Dr. Michael Brudno, SickKids Research Institute and University of Toronto, and Dr. François Bernier, Alberta Children’s Hospital and University of Alberta. This project is based at CHEO.