RARE Daily

Canadian Researchers Advance AI Technology for Rare Disease Diagnosis

December 13, 2023

Rare Daily Staff

Researchers at Canada’s London Health Sciences Centre and Lawson Health Research Institute, have received $5.2 million (CAN$7.6 million), including support from Genome Canada and genomics giant Illumina to advance AI-based technology to diagnose rare diseases with a blood test.

The researchers, led by Bekim Sadikovic, said it could change what has been years of trial and error in the search for a diagnosis into a simple blood test that could ultimately be available in any lab around the world.

“Despite advances in genome sequencing, it is estimated that nearly 70 percent of people with a rare genetic disease are not diagnosed,” said Sadikovic, research chair in Clinical Genomics and Epigenomics with the Archie and Irene Verspeeten Clinical Genome Centre at LHSC and scientist at Lawson.

Using machine learning, Sadikovic has developed EpiSign, the first technology that uses a patient’s epigenome to diagnose genetic disorders. At its most basic level this means that artificial intelligence is used to detect the pattern of chemical signals, called epigenetics, which turn genes within a person’s DNA on or off. The position of this on-off switch for any specific gene could mean someone has blue eyes versus brown eyes, or it could mean they have a rare genetic disease.

Over the last ten years, Dr. Sadikovic has been researching epigenetics and has created a database that contains the epigenetics of hundreds of genetic diseases, and diseases caused by toxic environmental exposures, the largest database of its kind in the world.

This decade of research has culminated in an ongoing national trial of this diagnostic technology called EpiSign-CAN. Funded by Genome Canada, the trial involves testing of thousands of patients across 14 Canadian academic hospitals.

“It is these episignatures that allow us to diagnose patients that otherwise cannot be diagnosed with standard genetic techniques,” Sadikovic said. “So, we can now interpret this genetic data that we couldn’t understand before and provide critical answers for patients and families affected by hundreds of rare diseases.”

The funding will enable the next phase of the project and implement EpiSign technology in labs at 15 academic institutions around the world.

Illumina will be developing custom microchip hardware to facilitate streamlined sample collection, and EpiSign, a Canadian startup biotechnology company that is a partnered venture

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