CORDIS Project
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This project focuses on Rett syndrome, a severe neurodevelopmental disorder caused by mutations in the MECP2 gene, primarily affecting girls. It aims to explore the role of autophagy in neuronal dysfunction and identify potential therapeutic targets to restore normal brain function in affected individuals.
Intellectual disability (ID) is a generalized neurodevelopmental disorder characterized by deficits in mental abilities, social and motor skills. ID affects about 2-3% of the general population and it is mostly caused by a genetic lesion.
Accordingly, mutations in the X-linked MECP2 cause Rett syndrome (RTT), a devastating neurological disorder that, because of its incidence (1:10000), represents the most common form of severe ID in girls worldwide with no approved cure. RTT profoundly affect th…
OSPEDALE SAN RAFFAELE SRL
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