PacBio and Care4Rare Consortium Collaborate on Rare Disease Research Study

The gene sequencing platform company PacBio and the Care4Rare Canada Consortium said they are collaborating to study some of the most complex, unexplained rare disease cases within Canada.

Photo: Jonas Korlach, chief scientific officer at PacBio

Care4Rare, led out of the CHEO Research Institute affiliated with the University of Ottawa, includes 21 academic sites across Canada and is recognized internationally as a pioneer in the field of genomics and personalized medicine. It will use PacBio’s HiFi long-read whole genome sequencing (WGS) technology to study rare disease samples that have already been sequenced with short-read WGS technology, but for which no genetic variant was identified.

“Care4Rare launched the C4R-SOLVE project in 2018 to work to identify the genetic cause of the most difficult to solve rare diseases and to facilitate the introduction of genome-based clinical diagnostic tests into the diagnostic care pathway for all Canadians with a suspected rare disease,” said Kym Boycott, senior scientist at CHEO Research Institute and chair of the Department of Genetics at CHEO. “Over the years we have used many technologies with great success to provide answers for many families, but there still remain some families for which we are unable to get an answer because their genetic change is hidden to the currently available technologies. We know that PacBio’s HiFi sequencing will allow us to explore new areas of the genome to find answers for these families, thereby advancing diagnostic care as well as providing insights into new areas of biology.”

C4R-SOLVE’s goal is to more than double the capacity to diagnose rare diseases in Canada, thereby improving care for patients by tailoring management to their underlying condition and providing new insights into rare conditions.

“Our collaboration with Care4Rare is exciting for all of us who want to help find answers in rare disease,” said Jonas Korlach, chief scientific officer at PacBio. “We believe that high-quality, long read WGS is the future of rare disease research, and we believe studies like this will make a meaningful impact on the medical community’s ability to make that future a reality sooner.”

Author: Rare Daily Staff