Dr. Bekim Sadikovic is the 2020 recipient of the Dr. Joseph Gilbert Research Contribution Award. His publication, “Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions,” published in the American Journal of Human Genetics, describes a novel technology for diagnosis of genetic neurodevelopmental conditions. His work was selected by the National Human Genome Research Institute as one of the ten most influential studies in clinical genomics in 2019, which involve the use of genomic information from an individual as part of their clinical care to improve the health outcomes for a target population.
The study developed a machine-learning model to concurrently detect genetic neurodevelopmental syndromes using epigenetic DNA methylation patterns in patient’s blood, called episignatures. This model has led to the creation of a new technology called EpiSign, which enables molecular diagnosis beyond conventional clinical genetic testing.
Developed at Lawson, EpiSign has been tested with patients from London Health Sciences Centre, and has recently been launched in Europe and North America as a world-first clinical epigenomic test. This technology currently enables the diagnosis of over 60 genetic neurodevelopmental disorders, with ongoing expansion in other genetic disorders and oncology.
“Using our EpiSign Knowledge Database which includes the epigenomic information of thousands of patients and controls, we are able to diagnose over 60 conditions with a single test, including in patients where targeted genetic testing was inconclusive,” explains Dr. Sadikovic. “It is an honour to have been recognized with this Lawson Impact Award. The work we are doing is proving to have a great impact in the lives of many people.”
Dr. Sadikovic’s work received a Genome Canada grant for $4.7 million, funding a national clinical trial (EpiSign-CAN) which is testing 4,000 patients across Canada to assess the clinical and health system impact data required for routine implementation of this technology.
Dr. Sadikovic has made significant contributions to the field of molecular biology and its direct application to clinical medicine, as well as biomarker and diagnostic technologies in areas including hereditary genetics, pediatrics, adult neurodevelopment, and cancer.