Karit Reinson works as the Head of the Department of Clinical Genetics, Tartu University Hospital and as a researcher at the Institute of Clinical Medicine at the University of Tartu. She defended PhD thesis in 2018 on the topic: New Diagnostic Methods for Early Detection of Inborn Errors of Metabolism in Estonia. As part of this work, she implemented newborn screening by the tandem MS method and has remained closely involved in supervising and coordinating newborn screening in Estonia. The second part of her thesis consisted of identifying new rare diseases for childhood-onset neurodevelopmental disorders, mainly by using whole exome sequencing (WES). This part of the work has been extended using a combination of WES, whole genome sequencing and different ‘omics’ to identify inherited ultra-rare disorders. Her more profound interest is in inherited metabolic disorders and the metabolic pathways behind them.