Development of an In-Vitro Cell System For Discovering and Evaluating the Effects of Therapeutic Candidates on Neurons Produced Using Rett Patient Ips Cells
Rett syndrome is a rare genetic disorder, often caused by loss-of-function mutations in the gene (MeCP2). There is much to be learned about this gene disrupted in patients with Rett, but it is generally accepted that it encodes a protein whose function is to precisely orchestrate the behavior of many additional genes that act in the brain. As a result, when MECP2 is damaged in children with Rett, it has been suggested that changes in the expression of many genes leads to profound alterations in development and function of the nervous system. In the present study, we will develop a cell system to characterize the functional changes that occur in human neurons harboring a Rett mutation. It is our intention that this assay system will be readily scaled to provide an efficient means to first identify and then determine the effects of potential Rett treatments. Eventually, we believe this same system will be useful for understanding whether the similar fundamental processes underlie Rett in many individuals and confirm whether any potential therapeutic we find will be useful in many or all patients.