Genomics in neurodevelopmental disorders: an avenue to personalized medicine

Abstract

Neurodevelopmental disorders: Translating genomic advances into clinical practice The identification of genetic mutations associated with neurodevelopmental disorders (NDDs) along with routine diagnosis based on patients’ characteristics is aiding the delivery of personalized therapies. Dora Tarlungeanu and Gaia Novarino at the Institute of Science and Technology in Klosterneuburg, Austria, review recent advances in genetic technologies, such as whole exome sequencing, that can lead to early intervention, guide choice of treatment and prompt genetic counseling. Introducing the mutations associated with NDDs into model organisms or stem cells is revealing some of the mechanisms underlying NDDs and enabling the evaluation of novel therapeutic strategies that target core symptoms of the disorders. To accelerate the implementation of individualized treatments for NDD the authors highlight the need to adopt interdisciplinary research approaches and to keep clinical staff updated on the latest findings in NDD genetics.