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First Canadian rare disease research platform goes live

February 28, 2019

TORONTO, CANADA — Care4Rare, pan-Canadian team and internationally-recognized pioneer in the field of genomics and personalized medicine, has launched Canada’s first national rare disease research platform, “Genomics4RD” (, which was developed by Toronto-based software company Gene42.

The launch coincides with Rare Disease Day, 2019, which raises awareness of the approximately one million Canadians affected by one of more than 7,000 different rare genetic diseases.

Care4Rare ( built Genomics4RD as part of Care4Rare-SOLVE, a large-scale national project funded by Genome Canada. The project is focused on “harnessing multi-omics to deliver innovative diagnostic care for rare genetic diseases in Canada” and seeks to identify the genetic causes of unsolved rare diseases and make clinical genomic testing more widely available to Canadians.

The Genomics4RD platform was developed by the Toronto-based precision medicine software company, Gene42 Inc., and relies on its PhenoTips software to securely store de-identified phenotypic and genotypic data. Care4Rare licensed the platform to organize and analyze the health, medical, and genomic data from thousands of participants across Canada, and merge isolated datasets scattered around the country.

Genomics4RD is the first centralized platform for Canadian rare disease researchers, allowing them to collaboratively identify the genetic causes of rare diseases and contribute new cases through the embedded PhenoTips software. Researchers are also collecting valuable health utilization and outcomes information that will ultimately help develop a precision health approach for rare disease. Further, Genomics4RD works with the Matchmaker Exchange, a network of rare disease databases that helps doctors find similar patients to identify new disease genes.

“At its core, Genomics4RD is built to help researchers collect and share structured data wherever possible, including allowing doctors to send de-identified data directly from hospital health systems” says Dr. Orion Buske, CEO at Gene42. “The patient’s symptoms, their family history, their genetics, and their data sharing preferences are all collected in standard, computable formats making it easier for researchers to search, filter, and analyze the data.”

“The Genomics4RD database will provide a powerful resource for researchers to better understand rare diseases and decrease the time to diagnosis for families across Canada and around the world”, says Dr. Kym Boycott, Clinician Scientist at CHEO and lead of the Care4Rare program.

For more information, please see or contact [email protected]

About Care4Rare

The Care4Rare Canada Consortium is a pan-Canadian collaborative team of clinicians, bioinformaticians, scientists, and researchers, focused on improving the care of rare disease patients across Canada and around the world. Led out of the Children’s Hospital of Eastern Ontario (CHEO) Research Institute in Ottawa, Canada, Care4Rare includes 21 academic sites across the country, and is recognized internationally as a pioneer in the field of genomics and personalized medicine. Its team uses state of the art genetic technology to identify new rare disease genes for patients. Together, hundreds of physicians and scientists work to advance our understanding of rare diseases and facilitate timely diagnoses as part of Care4Rare and the affiliated programs, the Rare Diseases Models and Mechanisms Network and RareConnect. The Care4Rare Canada Consortium is funded by Genome Canada and the Ontario Genomics Institute (OGI-147), the Canadian Institutes of Health Research, Ontario Research Fund, Genome Alberta, Genome British Columbia, Genome Quebec, and Children’s Hospital of Eastern Ontario Foundation.

About Gene42 Inc.

Founded in 2014, Gene42 builds enterprise software for genomic medicine. 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, pedigree drawing, and gene discovery.