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Test developed in London, Ont., validated for diagnosing rare heritable disorders in world first

Dr. Bekim Sadikovic, lead researcher at Lawson and Scientific and clinical director of the Verspeeten Clinical Genome Centreat London Health Sciences Centre, invented EpiSign. Lawson Health Research Institute

A study out of Lawson Health Research Institute in London, Ont., shows that EpiSign, a molecular genomics test developed at the research facility, has been clinically proven to effectively diagnose rare heritable neurodevelopmental conditions.

This means that patients with rare diseases who often wait multiple years for a correct diagnosis could get one a lot sooner.

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Invented by Dr. Bekim Sadikovic, lead researcher at Lawson and Scientific and clinical director of the Verspeeten Clinical Genome Centreat London Health Sciences Centre, the diagnostic test analyses information from a database of epigenomes.

“Using 211 blood samples, we measured test performance and diagnostic yield in 207 subjects from two different cohorts,” said Sadikovic.

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According to a release, the targeted cohort were subjects with previous genetic findings that were ambiguous or inconclusive. The screening cohort were those with clinical findings consistent with hereditary neurodevelopment syndromes but with no previous genetic findings.

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“Of the 207 subjects tested, 57 were positive for a diagnostic episignature including 48 in the targeted cohort, and eight in the screening cohort. Only four remained inconclusive after EpiSign analysis,” says Sadikovic.

“This gives us strong evidence for the clinical use of EpiSign, as well as the ability to provide conclusive findings in the majority of subjects tested.”

Right now, there are only limited treatment options for many of these conditions, but being able to provide a diagnosis can help doctors better understand the disease, which enables better planning and support for the patient, the release said.

Currently, EpiSign is the only test in the world that has been clinically validated for testing these kinds of genetic disorders.

The study, “Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders,” was published in February’s Genetics in Medicine and was completed in collaboration with the Greenwood Genetic Center and the University of Amsterdam.

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