SPEAKER: Prof. M. Chiara Manzini
Institute of Neuroscience, Pisa and LENS, Firenze
TITLE: “In vivo imaging of rehabilitation-induced cortical plasticity after stroke”
Abstract: Neurodevelopmental disorders (NDDs), such as intellectual disability (ID) and autism spectrum disorder (ASD), affect 1-2% of the global population and pose an enormous societal burden.
Despite extensive efforts, therapy development to date has not been successful. It is now clear that ASD and ID are highly clinically and genetically heterogeneous suggesting that a multitude of gene mutations can result in these phenotypes. It is not likely that the same therapy will be effective for every case.
By understanding different highly penetrant genetic mutations and defining how they affect brain function, we can define categories of disease and group patients for treatment. To this end, my laboratory has been focusing on how specific perturbations of intracellular signaling regulate neuronal differentiation and circuit formation and how disruption of signaling mechanisms leads to NDDs.
We combine human genetics with molecular, cellular, and behavioral approaches in murine models to identify genes that are essential for human brain function and to understand the signaling mechanisms underlying NDDs. Through these studies, we have also begun to explore the sex-specificity of these signaling defects.
ASD and ID are diagnosed more frequently in males, but the molecular mechanisms underlying sex bias in these disorders remain unknown. In developing mouse models for the CC2D1A genes, we observed remarkable male bias in behavioral impairment and sex-specific signaling deficits. We are exploring how such sex differences are established.