Children’s Health Foundation CHRI Scientist of the Year Award


Congratulations to Dr. Bekim Sadikovic who received the Children’s Health Foundation CHRI Scientist of the Year Award. This award is for the project entitled "Identification of structural signatures in the genome to diagnose childhood diseases."

Summary of the Project

Current genetic testing approaches are limited in diagnosing pediatric patients with developmental delay, intellectual disability, or congenital abnormalities. These mutations cause wide-scale disruptions in the structure that alter gene expression across the genome creating a distinct signature or "episignature". Dr. Bekim Sadikovic of London Health Science Centre led a team of Canadian and American scientists to develop a computational tool that can diagnose several rare, hereditary childhood disorders based on pediatric patient episignatures. This first-of-a-kind technology allows for the ability to identify novel genetic mutations associated with pediatric diseases and to diagnose patients for whom previous genetic testing has resulted in inconclusive results. This work has resulted in a global first Canadian national clinical trial currently using this technology to assess the health system impact in 4,000 patients, and development of the LHSC-led clinical diagnostic network of labs providing “EpiSign” testing to patients with genetic disorders globally.