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This study will assess the impact of high-resolution genomes generated by PacBio technology in studying unsolved rare disease cases
MENLO PARK, Calif.
Led by the University of Ottawa-affiliated CEO Institute, Care4Rare has 21 academic locations in Canada and is internationally recognized as a pioneer in genomics and personalized medicine
"Care4Rare launched the C4R-SOLVE project in 2018 to identify the genetic causes of the most difficult rare diseases and facilitate the introduction of genome-based clinical diagnostic tests into the diagnostic care pathway for all suspected rare diseases in Canada
More than 7,000 rare diseases are known to affect approximately 1 million Canadians - two-thirds cause severe disability, three-quarters affect children, and more than half cause premature death with little or no treatment method
PacBio's HiFi long-read whole-genome sequencing (WGS) technology will be used to study rare disease samples that have been sequenced with short-read whole-genome sequencing technology but no genetic variants have been identified
"Our collaboration with Care4Rare is exciting for all of us who want to help find answers to rare diseases," said Dr.
The goal of C4R-SOLVE is to more than double Canada's diagnostic capacity for rare diseases, thereby improving patient care and providing new insights into rare diseases through tailored management of their underlying disease
About Pacific Biosciences
California-based Pacific Biosciences (NASDAQ:PACB) is providing life scientists with highly accurate long-read sequencing
PacBio products are for research use only
About the CHEO Institute
The Research Centre of the University of Ottawa, Canada coordinates the research activities of the University of Ottawa, Canada, and is affiliated with the University of Ottawa
forward-looking statements
This press release may contain "forward-looking statements" within the meaning of the Securities Exchange Act of 1934, as amended, and Section 21E of the US Private Securities Litigation Reform Act of 1995, including Statements relating to the future availability, use, accuracy, advantage, quality or performance of: or the benefit or anticipated benefit of using PacBio products or technologies; the suitability or utility of such products or technologies for particular applications or projects, including Related to Care4Rare Canada and C4R-SOLVE studies; potential increase in variant testing and providing answers for rare disease samples, particularly Care4Rare and C4R-SOLVE studies and rare disease studies in general; development of clinical or diagnostic assays using PacBio technology; and others future events
contact
Investor: Todd Friedman 650.
Media:
Jennifer Ruff, Director of Communications, CEO Institute jruff@cheo.