The chromatin basis of neurologic dysfunction in the SWI/SNF-related autism syndrome

Nowadays, the most frequently mutated gene in Autism Spectrum Disorder disease (ASD) is ADNP. This project gather together Prof.Kooy and Prof. Eichler, whose teams discovered ADNP as an ASD-causative gene, and our lab that mastered the induced Pluripotent Stem Cells disease modeling. Thanks to this collaboration, we collected fibroblast samples from ADNP mutation carriers, and our laboratory has already started DNA integration-free reprogramming in order to establish the first cohort of ADNP-mutated iPSC. After the induction of pluripotent stem cell we will be able to generate through differentiation the most relevant tissues affected by the disease. In particular we will investigate the effect of ADNP mutation at stem cell stage and during the neuronal development. Consequently, we will be able to recapitulate the disease in vitro in order to identify the molecular network(s) that ADNP mutations disrupt. This project will create a better understanding to the ASD genetic causes, putting the groundwork to elucidate the role of chromatin modifier genes in this pathology. Eventually, this project will lead to the identification of deregulated networks, that could be potential targets for pharmacological treatment.