View Press Releases

Toronto software company to build Canada-wide rare disease data repository

January 23, 2018

TORONTO, ON, CANADA - Jan 23, 2018 - Gene42 to build first Canada-wide rare disease data repository

Gene42 Inc., a Toronto company that develops software for precision medicine, will build 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. The cloud-based data repository and analysis platform, called “Genomics4RD,” 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 (C4R-SOLVE).”

“Genomics4RD will streamline data sharing between leading Canadian researchers and help them find answers for families still searching for a diagnosis,” said Dr. Pawel Buczkowicz, Chief Medical Affairs Officer at Gene42. “We’re honoured to build the technical infrastructure that will support this cutting-edge research.”

Gene42 will develop the Genomics4RD platform in collaboration with LSARP project leaders, including the Children’s Hospital of Eastern Ontario (CHEO) Research Institute in Ottawa, The Hospital for Sick Children in Toronto, the University of Calgary, and the University of British Columbia. C4R-SOLVE builds on the ground breaking work of the Care4Rare Canada Consortium, and seeks to identify the genetic causes of unsolved rare diseases and make genome-based clinical diagnostic tests more widely available to Canadian patients.

“This grant will help ensure that Canada remains a world leader in rare disease research,” said Dr. Kym Boycott, Professor of Pediatrics at the University of Ottawa and Senior Scientist at the CHEO Research Institute, the Principal Investigator of the LSARP project. “We are excited to work with Gene42 and develop the Genomics4RD data sharing platform.”

Genomics4RD will securely store the health, medical, and genomic data from thousands of participants across Canada with rare and undiagnosed genetic diseases, acting as the first pan-Canadian rare disease data repository. Existing rare disease datasets that are currently scattered around the country will be harmonized within Genomics4RD, and then combined with data from new studies going forward. Researchers will be able to contribute cases to Genomics4RD through PhenoTips®, Gene42’s software for collecting and analyzing phenotypic information of patients with genetic disorders. The combined dataset will provide a unique opportunity for data mining and machine learning, allowing researchers to discover new patterns and find diagnoses that might otherwise be missed. Because of the sensitivity of the data, access will be tightly controlled and research projects will be vetted by a research ethics board.

Genomics4RD will pave the way for nationwide practice of “precision healthcare”: using genomics and health-related “big data” to improve health and wellbeing. Dr. Boycott said, “This platform will help clinicians and researchers share Canadian rare disease data, thereby shortening the time to diagnosis for Canadians with rare disease. A timely diagnosis improves the health and wellbeing of families living with rare disease while also saving money for the Canadian healthcare system.”


About Gene42 Inc.

Founded in 2014, Gene42 develops software for the investigation and treatment of people with genetic based disease. The Toronto-based team of computer scientists, software engineers, and medical experts develops specialized software to solve today's challenges and discover tomorrow's opportunities in medical genetics. Its flagship product, PhenoTips®, is used around the world by leading hospitals and research institutions for deep clinical phenotyping and pedigree drawing.