EAN 2021 | Understanding Rett syndrome

Huda Zoghbi, MD, Baylor College of Medicine, Houston, TX, shares how her work has provided insight into childhood neurodevelopmental disorders by focusing on Rett syndrome. This postnatal progressive neurological disorder affects 1 in 10,000 girls. Dr Zoghbi’s group discovered the genetic cause of Rett syndrome, loss of function of the X-linked gene encoding methyl-CpG binding protein 2 (MeCP2). Research has shown a vast spectrum of phenotypes based on the mutation. Dr Zoghbi believes this is not unique to Rett syndrome and the MECP2 gene, but it will also apply to other genes causing childhood neurodevelopmental disorders. Additionally, Dr Zoghbi explains how MeCP2 modulates neuronal function and the consequences on brain networks. This interview took place during the European Academy of Neurology 2021 congress.