Gene42, a UTEST company from the 2015 cohort, recently launched Genomics4RD, Canada’s first national rare disease research platform, in partnership with research association Care4Rare.

Care4Rare and Gene42 built Genomics4RD as part of a national initiative funded by Genome Canada. The project is focused on employing multi-omics, an approach to biological analysis, to deliver diagnostic care for rare genetic diseases in Canada. The initiative seeks to identify the genetic causes of unexplained rare diseases and make access to clinical genomic testing more widely available to Canadians.

“Genomics4RD database will provide a powerful resource for researchers to better understand rare diseases.”

“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,” said 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.”

Gene42 was founded in 2014 in Toronto, by computational biology researchers at the Hospital for Sick Children who set out to develop new computer-based methods for linking phenotypes, meaning physical symptoms, to genotypes, meaning genetic characteristics.

Gene42’s newest solution, Genomics4RD, will allow researchers to pinpoint the genetic origins of rare diseases, and could lead to new instances of cases through the software. With the platform, doctors can also devise an accurate approach to confronting these diseases. The platform includes both structured and unstructured data, including family histories, 2D and 3D facial imaging, and DNA sequencing.

The Genomics4RD platform depends on its PhenoTips software to securely store phenotypic and genotypic data. Care4Rare licensed the platform to organize and analyze health, medical, and genomic data, as well as merge isolated datasets from participants across Canada. Genomics4RD works with the Matchmaker Exchange, a network of rare disease databases that helps doctors find similar patients in order to identify new disease genes.

“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, a clinician scientist and lead of the Care4Rare program.