PACIFIC BIOSCIENCES OF CALIFORNIA, INC. PacBio, and the Care4Rare Canada Consortium (Care4Rare) announced that they are collaborating to study some of the most complex unexplained rare disease cases within Canada. 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. There are more than 7,000 known rare diseases that impact approximately one million Canadians two-thirds of the rare diseases cause significant disability, three-quarters affect children, more than half lead to early death, and almost none have any treatment.
Further, the cause of more than one-third of these diseases is not yet known. PacBio's HiFi long-read whole genome sequencing (WGS) technology will be used to study rare disease samples that have already been sequenced with short-read WGS technology, but for which no genetic variant was identified.
