Several aspects of different nervous system pathologies could be dissected by use of induced pluripotent stem cells (iPSCs), obtained directly from patients carrying pathogenic gene mutations and differentiated into human neurons. Recent developments of iPSCs derived human neuronal cultures now allow differentiation of selected neuronal subtypes to investigate cell-specific phenotypes and generation of 3D neuronal cultures (brain organoids) to study complex neurodevelopmental processes as neuronal migration, connectivity and function

The project aims to investigate the physiopathological roles of a class of emerging genes causative for neuronal functional and morphological alterations that impact on cellular development, synaptic function and behavior. The activities related to this research topic are the study of proteins involved in the physiopathological mechanisms that regulate synaptic vesicle biogenesis, trafficking and degradation and the impact of dysregulation of presynaptic physiology in brain disorders