NEW YORK – The Ontario Brain Institute is partnering with Canadian startup EpiSign to improve diagnosis and care for people with rare neurological genetic disorders.
As part of the collaboration, OBI's Center for Analytics and EpiSign will refine and validate EpiSign METRIC (methylation-based episignature testing and reference-based interpretation and classification), a machine-learning algorithm that analyzes a person's epigenome to detect rare genetic disorders.
The EpiSign technology uses microarrays to assess genome-wide DNA methylation patterns from peripheral blood samples, according to the London, Ontario-based company's website. The OBI Center for Analytics will contribute its artificial intelligence application and cloud computing expertise to the project to enable earlier and more accurate diagnoses using the EpiSign technology.
"EpiSign METRIC marks the next evolution of our technology — our first end-user software empowering clinical laboratories worldwide to independently analyze their own episignature testing data," EpiSign CEO Dan Sinai said in a statement. "This collaboration with OBI will drive the global adoption of a standardized approach to epigenetic diagnostics. Our clinical testing network, spanning North and South America, the UK, Europe, the Middle East, and Australia, is now undertaking large-scale validation, with clinical implementation planned and a global launch set for Q3 2025."
The OBI is a provincially funded, not-for-profit organization that accelerates discovery and innovation.