My current research  is focused on understanding  rare retinal degenerative diseases which cause vision loss. Since no cure is currently available, these disorders represent a serious social, medical, and economic challenge. The main hypothesis of my work is that human models, based on iPS, represent a key tool to study the mechanism of disease with high genetic variability in physiologically- and clinically relevant cells that can help discover therapeutic targets and accelerate the search for effective therapies.  In the study of Usher syndrome, we developed a cell model from  patients own cells , we identified the dysfunction of the USH2 network aside from  USH2A  in all studied genotypes  together with defects in vesicle trafficking( Manuscript in preparation). On the other hand the human model of USH1 (Usher type 1) allowed the  deciphering the disease mechanism not  present in animal models in which we will test  promising novel  gene therapies (dual AAV, collaboration with U.de Zurich (Dr. Becirovic), grant applications ongoing). Our proposal in this Call addresses primary congenital glaucoma which we postulate to affect both RGC and trabecular meshwork. We leverage on already available patients’ material and reprogrammed cells in which we will study the events related to oxidative stress caused by CYP1B1 defect and  the contribution of extracellular matrix components , studying the mechanical forces and also establish  correlations with clinical phenotype in order to pave the way toward the clinic.