Journal of Neurodevelopmental Disorders
Translation in fragile X: no home runs in the first at-bat
Journal of Neurodevelopmental Disorders20179:21
© The Author(s). 2017
Published: 12 June 2017
Four articles in this issue of the Journal describe various steps in the cascade of research from gene discovery to potential treatment in fragile X syndrome (FXS) [1, 2, 3, 4]. Objectively, FXS is one of the most productive areas of research in neurodevelopmental disorders. Twenty-six years ago, the cause of FXS was identified as a trinucleotide repeat expansion that disrupts FMR1 gene expression . This discovery quickly led to cellular and mouse models that lacked the corresponding protein, FMRP, leading in turn to fundamental insights into its function in the cell and at the synapse. Over the past 12 years, several groups have identified small molecules that rescue neuroanatomical, electrophysiological, and behavioral features in animal models of FXS. These results are tremendously exciting!