A Model for Neural Development and Treatment of Rett Syndrome Using Human Induced Pluripotent Stem Cells

Source: 
Cell, Marchetto et al
Year Published: 
2010

Autism spectrum disorders (ASD) are complex neurodevelopmental diseases in which different combinations of genetic mutations may contribute to the phenotype. Using Rett syndrome (RTT) as an ASD genetic model, we recapitulate early stages of a human neurodevelopmental disease, using induced pluripotent stem cells (iPSCs) from RTT patients' fibroblasts, which essentially creates a "disease in a dish". The data uncovered early alterations in developing human RTT neurons and suggest evidence of an unexplored developmental window, before disease onset, in RTT syndrome where potential therapies could be successfully employed. Our model represents a promising cellular tool for drug screening, diagnosis and personalized treatment.