On average it takes five to seven years to diagnose a rare disease. But, for growing numbers of rare diseases, that is all about to change with new artificial intelligence-led technology developed by researchers at London Health Sciences Centre (LHSC) and Lawson Health Research Institute that will be going global.
With funding of $7,551,693 that includes a Genome Canada Genomic Applications Partnership Program (GAPP) grant and support from Illumina Inc., a leading developer of tools for analysis of genetic variation, research led by Dr. Bekim Sadikovic will 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 per cent of people with a rare genetic disease are not diagnosed,” says Dr. Sadikovic, Research Chair in Clinical Genomics and Epigenomics with the Archie and Irene Verspeeten Clinical Genome Centre at LHSC, and Scientist at Lawson.
“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 family because they can be inherited,” he says.
Using machine learning, Dr. 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, that 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,” Dr. Sadikovic explains. “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.”
This $7.44 million grant funding from the Government of Canada through Genome Canada will enable the next phase of the project in which EpiSign™ technology will be implemented in labs at academic institutions in 15 countries around the world.
“This research is a great example of LHSC’s commitment to supporting the world-leading advances in diagnosis of patients with rare diseases,” says Brad Campbell, Corporate Hospital Administrative Executive at LHSC.
Along with Dr. Sadikovic’s laboratory at LHSC, two industry partners will be involved in this project. Illumina Inc. will be developing custom microchip hardware to facilitate streamlined sample collection, and EpiSign Inc., a Canadian startup biotechnology company which is a partnered venture between LHSC and Dr. Sadikovic, will develop end-user software for automated data analysis in labs around the world.
“The support provided by Genome Canada and Illumina will enable adoption of EpiSign technology and place it at the forefront of patient care globally,” Campbell says.
Dr. Sadikovic’s work has also been supported with funding through LHSC’s Academic Realignment Initiative Awards and generous donor support through London Health Sciences Foundation, including through the Archie and Irene Verspeeten Clinical Genome Centre.
Media contact:
Roxanne Beaubien
Senior Media Relations Consultant
London Health Sciences Centre
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Lawson Health Research Institute is one of Canada’s top hospital-based research institutes, tackling the most pressing challenges in health care. As the research institute of London Health Sciences Centre and St. Joseph’s Health Care London, our innovation happens where care is delivered. Lawson research teams are at the leading-edge of science with the goal of improving health and the delivery of care for patients. Working in partnership with Western University, our researchers are encouraged to pursue their curiosity, collaborate often and share their discoveries widely. Research conducted through Lawson makes a difference in the lives of patients, families and communities around the world. To learn more, visit www.lawsonresearch.ca.
London Health Sciences Centre has been at the forefront of medicine in Canada for 145 years and offers the broadest range of specialized clinical services in Ontario. Building on the traditions of its founding hospitals to provide compassionate care in an academic teaching setting, London Health Sciences Centre is home to Children’s Hospital, University Hospital, Victoria Hospital, the Kidney Care Centre, two family medical centres, and two research institutes – Children’s Health Research Institute and Lawson Health Research Institute. As a leader in medical discovery and health research, London Health Sciences Centre has a history of over 70 international and national firsts and attracts top clinicians and researchers from around the world. As a regional referral centre, London Health Sciences Centre cares for the most medically complex patients including critically injured adults and children in southwestern Ontario and beyond. The hospital’s nearly 15,000 staff, physicians, students and volunteers provide care for more than one million patient visits a year. For more information, visit www.lhsc.on.ca.
