Unravelling WASHC4 brain-specific function to uncover its implication in intellectual disability

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

Human intellectual disability (ID) is an early neurodevelopmental disorder, defined by impaired intellectual functioning and adaptive behaviour with an onset before 18 years of age in humans. The prevalence of ID is estimated to be about 2-3% worldwide and consequently places a serious burden on families, society and medical care.
Intellectual Disability, as other neurodevelopmental disorders, is mainly characterized by alterations in synaptic development, from different points of view, suggesting that abnormalities in neuronal morphology, dendritic spines and synaptic connectivity are a common hallmark for disorders that include deficits in cognition and information processing. Scientific research conducted on these pathologies is essential to fully dissect the molecular networks controlling synaptic development, to define the aetiology of the diseases and then to identify a possible therapy. WASHC4 is one of the genes responsible for ID associated with additional clinical features. Overall, the role of the WASHC4 in neuronal cells and ID has remained largely unaddressed. The principal aim of the project is to define the role of WASHC4 during neuronal development, to identify the protein cascades affected by the lack of WASHC4 with the final goal of identifying novel molecular players that may be targeted for future therapies.