Short CV

Anna Fassio received her PhD in Neuropharmacology from the University of Torino and Genova in 1999. She trained as a predoctoral and postdoctoral researcher at the Babraham Institute (Cambridge, UK), DIBIT San Raffaele Hospital (Milan, Italy), and the DIMES Physiology Lab at the University of Genova, where she investigated the molecular mechanisms of neurotransmission and the regulation of oxidative protein folding in eukaryotic cells. In 2009, she started her independent research as Assistant Professor at the University of Genova, where she has been Full Professor of Physiology since January 2026. Since 2018, she has also been an affiliated researcher at IRCCS-AOM, Genova.Her research focuses on synapse development and function, with particular emphasis on how mutations in genes encoding synaptic proteins lead to neurodevelopmental disorders (NDDs). She currently studies preclinical in vitro and in vivo models to investigate membrane trafficking, intracellular pH regulation, and proteostasis in neuronal function and NDD pathophysiology.

Title of the talk

The epilepsy gene TBC1D24: from pathogenic mutations to novel therapeutic strategies

Abstract

In this talk, Anna Fassio will present preclinical models used to study the physiological function of TBC1D24 and the pathophysiology of TBC1D24-related diseases. The presentation will introduce the expression and function of the TBC1D24 gene product, as well as the spectrum of neurodevelopmental disorders associated with TBC1D24 mutations.

In vitro models used to investigate the impact of TBC1D24 variants and loss of function on neuronal morphology and activity will be described, together with the cellular biology techniques employed to identify TBC1D24 protein partners and to evaluate related cellular processes such as synaptic vesicle cycling and autophagic flux.In vivo models, including constitutive and conditional Tbc1d24 knockout mice, will also be presented, along with their use in evaluating the behavioral and EEG phenotypes resulting from loss of Tbc1d24 expression.

Finally, the talk will explore potential therapeutic strategies to be tested in these models and discuss their broader relevance for a novel class of neurodevelopmental disorders characterized by pH dysregulation and impaired autophagy.