MAU2: the (T)dark side of Cornelia de Lange syndrome

This project has been funded thanks to the Joint Call Fondazione Cariplo and Fondazione Telethon 2022 

Cornelia de Lange syndrome (CdLS) is a rare genetic disorder that affects almost any organ. One of the aspects that mostly impairs quality of life of people with CdLS is the cognitive and behavioral deficit. For this reason, our laboratory has devoted its efforts to better understand the association between the causative genes and the neurodevelopmental defects, with the ultimate goal of improving diagnostic and therapeutic strategies. This project focuses on a new and poorly studied gene (MAU2) using “organ in the dish” method, whereby a 3D simplified cerebellum will be grown in the laboratory starting from patients’ cells. Such sophisticated model, coupled with state-of-the-art techniques to study each single cell included in the tissue grown in the dish, will allow us for an in-depth analysis of the effects of CdLS causative mutations during cerebellum development, known to be involved in the neurological manifestations of the disease. Moreover, to unveil the relevance of MAU2 for vertebrate neurodevelopment, we will also exploit the zebrafish as animal model.