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Canadian Government and Gene42 Team up to Tackle Big-Data Precision Healthcare

Data and analytics will soon be put to the test as a method for keeping track of different diseases.

Gene42 is building the first pan-Canadian rare disease data repository as part of a $12.9 million Large-Scale Applied Research Project (LSARP) grant awarded by Genome Canada today. Gene42 is a Toronto-based precision medicine software development company.

The new project—called Genomics4RD—will harness and analyze cloud-based data and is a key piece of infrastructure for the 4-year LSARP project “Care4Rare Canada: Harnessing multi-omics to deliver innovative diagnostic care for rare genetic diseases in Canada,” otherwise known as C4R-SOLVE. The project will pave the way for genomics and big-data-aided precision healthcare.

“Genomics4RD will streamline data sharing between leading Canadian researchers and help them find answers for families still searching for a diagnosis,” said Pawel Buczkowicz, Chief Medical Affairs Officer at Gene42.

The funding comes as part of the Canadian government’s larger push towards precision healthcare research. The government announced a total investment of $255 million in genomics research today—$162 million towards 15 projects at SickKids hospital in Toronto, and $93 million for 10 genomics tech projects nationwide. Gene42 is a part of a larger $12.9 million stakeholder project, and they will be heading up the data repository side of things—which they are actually completing for free to support the project. 

The Genomics4RD project is developed in collaboration with Gene42 and several other project leaders, including the Children’s Hospital of Eastern Ontario (CHEO) Research Institute in Ottawa, The Hospital for Sick Children in Toronto (SickKids), the University of Calgary, and the University of British Columbia.

The involved parties are continuing the work of Care4Rare Consortium Canada as they seek to identify the causes of rare diseases and allow for genome-based clinical diagnostic tests to be made more available to Canadians. There are roughly 7,000 rare diseases, and less than one per cent of those are currently curable.

“This grant will help ensure that Canada remains a world leader in rare disease research,” said Kym Boycott, senior scientist at the CHEO Research Institute, which is the principal investigator of the LSARP project.

“This platform will help clinicians and researchers share Canadian rare disease data, thereby shortening the time to diagnosis for Canadians with rare diseases,” added Boycott. “A timely diagnosis improves the health and well-being of families living with rare diseases while also saving money for the Canadian healthcare system.”

The repository will store the health, medical and genomic data from thousands of participants across the country who have rare and undiagnosed diseases. Pre-existing rare diseases will be consolidated into one medical archive within Genomics4RD and combined with new data going forward, creating a unique opportunity for both data mining and machine learning. Researchers will be able to search for patterns and make diagnoses based on the new information that they may have otherwise missed.

As the information included within Genomics 4RD is medical in nature and thus incredibly sensitive, access will be tightly controlled and all research projects will be vetted by a research ethics board.

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