Ontario Brain Institute partners with EpiSign to advance diagnosis of rare genetic disorders

TORONTO, March 25, 2025 /CNW/ - The Ontario Brain Institute (OBI) is pleased to announce a joint new initiative with EpiSign Inc., paving the way for improved diagnosis and care for people with rare neurological genetic disorders.

Approximately 1 in 15 children are born with a rare genetic condition, many of which manifest in early childhood and require frequent hospital care. Current diagnostic methods are costly and often leave patients undiagnosed, which can delay treatment and limit access to specialized care.

Through this new collaboration with OBI's Centre for Analytics, EpiSign will refine and validate the EpiSign METRIC (Methylation-based Episignature Testing and Reference-based Interpretation & Classification) an advanced machine learning algorithm that analyzes a person's epigenome – chemical changes in the body that regulate genetic activity – to detect rare genetic disorders. By leveraging the Centre for Analytics' analytics and artificial intelligence application deployment expertise, as well as its advanced cloud computing platform, EpiSign will be on its way to fast-tracking earlier and more accurate diagnoses for rare genetic disorders.

"The Ontario Brain Institute's collaboration with EpiSign demonstrates how advanced AI and machine learning techniques can accelerate innovation in healthcare," said Dr. Tom Mikkelsen, OBI's President and Scientific Director. "By refining diagnostic tools for rare genetic disorders and enabling earlier, more accurate diagnoses, ultimately, we will help improve patient outcomes."

"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," said Dan Sinai, CEO of EpiSign Inc. "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."

"This milestone not only expands access to EpiSign technology but also paves the way for broader applications beyond hereditary genetic diseases," added Dr. Bekim Sadikovic, CSO of EpiSign Inc. and London Health Sciences Research Chair in Clinical Genomics and Epigenomics. "By integrating cutting-edge AI, federated learning, and next-generation sequencing platforms, we are accelerating discoveries in epigenetics – extending into areas such as environmental exposures, neurological and hematologic conditions, cancer, treatment response, and drug development."

By connecting complex data types with advanced algorithmic methods, OBI's Centre for Analytics empowers neuroscientists and technology experts to create disruptive technologies that better detect, predict, and treat neurological conditions. Partnering with EpiSign underscores OBI's mission to bridge the gap between research, innovation, and patient impact, ensuring that cutting-edge technologies translate into tangible healthcare advancements.

The Honourable Nolan Quinn, Ontario Minister of Colleges, Universities, Research Excellence and Security, said: "Our government is proud to fund the Ontario Brain Institute, whose partnership with EpiSign will not only deliver ground-breaking research and cutting-edge medical care, but it will also further cement Ontario as a global leader in health sciences innovation that is critical to supporting our world-class health care sector and growing our economy." 

About the Ontario Brain Institute 

The Ontario Brain Institute (OBI) is a provincially funded, not-for-profit organization that accelerates discovery and innovation, benefiting both patients and the economy. OBI's collaborative team science approach promotes brain research, commercialization, and care by connecting researchers, clinicians, industry, patients, and their advocates to improve the lives of those living with brain disorders. For more information, visit braininstitute.ca.

About EpiSign

EpiSign Inc. is a Canadian biotech start-up recognized for its expertise in developing diagnostic tests based on epigenetic markers, with a focus on enhancing precision medicine through innovative biomarker discovery and validation. By driving advancements in epigenetic diagnostics, EpiSign seeks to improve patient care by facilitating earlier and more accurate diagnoses of rare genetic conditions. For more information about EpiSign Inc., visit episign.com.

SOURCE Ontario Brain Institute

CONTACTS: Renée Dunk, Senior Communications Lead (Ontario Brain Institute): [email protected], 416-562-2695 | Dan Sinai, CEO (EpiSign Inc.): [email protected]