London researcher’s AI-enabled test for rare diseases earns $7.5M grant

Artificial Intelligence-led technology developed by a London researcher to help diagnose rare genetic diseases that would otherwise take years to pinpoint may soon be available at labs worldwide with the help of a $7.55-million grant.

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The work done at London Health Sciences Center and its research arm, Lawson Health Research Institute, has created a way for doctors to use a blood test to determine whether a patient has a rare disease. It’s received the multimillion-dollar grant from the federal government through Genome Canada, a nonprofit focused on genomics-based technologies.

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“Despite advances in genome sequencing, it is estimated that nearly 70 per cent of people with a rare genetic disease are not diagnosed,” said lead researcher Bekim Sadikovic, research chair in clinical genomics and epigenomics with the Archie and Irene Verspeeten Clinical Genome Center at LHSC.

“To receive specialized care, you need a specific genetic diagnosis. Without one, you can’t access therapy and, unlike other types of diseases, genetic diseases don’t only affect the patient, they affect whole families because they can be inherited,” Sadikovic said.

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For a decade, he has been researching epigenetics – chemical signals that turn genes on or off within a person’s DNA – and has built a database of the signals for hundreds of genetic diseases, hospital officials say. Using what they call “machine learning,” Sadikovic has developed a system to use a patient’s epigenome to determine if they’re suffering from one.

His work has led to an ongoing nationwide trial of the technology at 14 hospitals.

In a statement, an LHSC official praised Sadikovic’s research as the kind of work the hospital is capable of doing.

“This research is a great example of LHSC’s commitment to supporting the world-leading advances in the diagnosis of patients with rare diseases,” Brad Campbell said.

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