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Two world first discoveries from @lhsccanada and Lawson Health Research Institute allow for accurate diagnosis of rare diseases and those that have been caused by environmental factors rather than genetics.
In one of two newly published studies, Dr. Sadikovic found EpiSign™, a technology he developed, can be used to accurately identify patients affected by birth disorders called recurrent constellation of embryonic malformations (RCEMs). Since their discovery more than 70 years ago, it has been challenging to provide patients and families with accurate diagnoses. EpiSign can now be used to accurately identify RCEMs for the first time using a blood test.
In a second study, Dr. Sadikovic’s team used EpiSign technology for the first time to develop an accurate biomarker for a group of disorders called fetal valproate syndrome, which is caused by prenatal exposure to toxic levels of medication and can result in neurodevelopmental disorders in infants.