Generating solutions

An estimated 1 in 15 children is born with a rare genetic disease. Since 75 per cent of the 4,000 diseases manifest in childhood, children affected by them occupy 25 per cent of pediatric hospital beds in Canada, with diagnostic assessments often exceeding $10,000 per child. Despite advances in genome sequencing, most people with rare disorders remain undiagnosed, resulting in a significant socioeconomic burden related to the so-called “diagnostic odyssey”, impacting treatment, reproductive planning and access to specialized care services. In addition to genetics, a significant cause of birth and neurodevelopmental defects involves prenatal exposures to teratogenic toxins including lifestyle choices, drugs and pathogens. Toxic exposures are challenging to resolve due to the lack of genetic biomarkers that can be detected with standard molecular tests. In partnership with Canadian biotech start-up EpiSign Inc., London Health Sciences Centre’s Dr. Bekim Sadikovic has developed the first technology, called EpiSign, that uses a patient’s epigenome to diagnose both genetic and teratogenic disorders. EpiSign’s proprietary and continuously evolving AI-based algorithms compare Illumina microarray-generated epigenetic DNA methylation profiles in a patient’s blood to the EpiSign Knowledge Database, the largest, rare disorder DNA methylation database. This project will expand clinical adoption of EpiSign as a Tier I test, using new Illumina technology. The project will advance molecular diagnostics of rare disorders and enhance Canada’s leadership in clinical epigenomics. Improved and earlier diagnosis will give patients better access to care options and support networks, while improving health equity and socioeconomic impacts on healthcare systems in Canada and internationally.