Across global healthcare systems, millions of patients remain stuck in what clinicians call the ‘diagnostic odyssey’—years of testing, referrals, and unanswered questions, especially for patients with rare genetic disorders. According to CARE4RARE Canada (formed under Finding Rare Disease Genes in Canada), fewer than one-third of patients with suspected rare genetic conditions ever receive a definitive diagnosis. These delays not only affect patients and families, but they also postpone appropriate treatment, drive up healthcare costs, and place sustained strain on overburdened health systems.
That gap between data and diagnosis is one of the most critical challenges in modern medicine and it’s exactly where EpiSign Inc., a London, Ontario–headquartered Canadian biotechnology company, is making a global impact.
Developed at the intersection of artificial intelligence, cloud computing, and epigenetics, this innovative companyis redefining how rare diseases are detected, and in doing so, further amplifies London as a global hub for AI-enabled health diagnostics.
Leveraging big data
At its core, EpiSign is built on a powerful insight: when DNA sequencing can’t explain a patient’s condition, the answer may lie not in the genes themselves, but in how those genes are regulated.
“Only about 30 per cent of patients with suspected genetic disease can be diagnosed using conventional genetic testing,” says Dr. Bekim Sadikovic, Chief Scientific Officer of EpiSign. “That leaves a vast majority of patients waiting years, sometimes decades, without answers. Our technology is designed specifically to address that unmet need.”
EpiSign applies machine learning to epigenetic biomarkers — specifically DNA methylation patterns — to identify disease-specific “episignatures.” These signatures act as highly accurate biological fingerprints, enabling clinicians to diagnose conditions that traditional genomic sequencing misses.
As the first-ever scientifically validated epigenomic diagnostic testing software, what makes EpiSign’s technology especially powerful is its scale. Thousands of patient samples from more than 30 countries feed into what has become the world’s largest epigenetic reference database for rare disease diagnostics.
“Epigenetics sits at the intersection of our genes and our environment,” shares Sadikovic. “With AI, we’re able to detect patterns that humans simply cannot see on their own. These give us insight into not just what a patient’s DNA looks like, but how it’s behaving.”
Using cloud-based diagnostics to scale
From the beginning, EpiSign designed its METRIC software platform to be cloud-delivered, a decision that was critical to its global reach.
Rather than operating as a centralized lab service, EpiSign’s AI-driven software integrates directly into hospital and laboratory workflows worldwide. Secure, standardized, and compliant with international regulations, the platform allows clinical teams to run highly sophisticated diagnostics without building in-house epigenetics expertise.
“We’re working with hospital systems, labs, and healthcare networks,” says Dan Sinai, CEO and President of EpiSign.“When you sell to such institutions, it means scale depends on trust, validation, and reimbursement. You can’t shortcut any of those.”
That emphasis on robustness for their software has been paramount to the company’s growth trajectory. Before commercialization, EpiSign underwent extensive technical validation to ensure AI-generated results matched human-led analysis. Clinical validation followed, supported by peer-reviewed research and large-scale international trials.
“We had clear demand, clear clinical need, and a very defined path to market. That’s what allowed us to scale responsibly,” adds Sinai.
The power of a thriving tech community
While EpiSign’s reach is global, its roots are firmly planted in London, ON, a tech and innovation hub recognized for its strengths in some of the nation’s critical technology sectors including big data, healthcare, and applied AI.
The company emerged from research conducted at the London Health Sciences Centre and the London Health Sciences Research Institute, where Dr. Sadikovic leads a globally connected epigenomics research centre. That proximity to frontline clinical research laid the foundation for EpiSign’s novel solution.
“London offers something rare,” says Dr. Sadikovic. “We have world-class clinical research, access to diverse patient populations, and deep academic talent, all within a community that deeply supports collaboration.”
Beyond research infrastructure, London’s broader innovation ecosystem played a critical role in helping EpiSign transition from lab discovery to a global venture. Access to cloud infrastructure, AI talent, and commercialization support allowed the company to scale quickly without leaving the region.
Sinai points to organizations like TechAlliance as key connectors. “You can build globally from here,” he says. “We sell into Europe, the U.S., Australia–all from London. This ecosystem supports that kind of ambition.”
Validation at the system level
Reaching a significant milestone in late 2025, Ontario’s Ministry of Health recognized DNA methylation episignature testing as a reimbursable clinical service, validating EpiSign’s technology at the provincial level.
The designation allows Ontario physicians to access EpiSign testing for patients through approved clinical pathways, marking a major step forward for rare disease diagnostics in Canada.
“This milestone is about acknowledging that epigenetic diagnostics belong to routine clinical care. Our team is thrilled to be able to start offering testing to Canadians,” says Sadikovic.
The milestone also carries broader implications for Canadian innovation. While EpiSign’s technology is already used clinically in the U.S., Europe, and Australia, Ontario’s recognition signals growing momentum toward adopting homegrown health technologies within Canada’s public system.
As healthcare systems worldwide grapple with rising complexity and cost, technologies like EpiSign offer a clear pathway for the future of medicine–one that will be built on data, powered by AI, and shaped by collaborative ecosystems that translate foundational scientific insight into solutions capable of changing lives. And that future is being built in London, Ontario, Canada.
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