Giovedì, 26 Febbraio 2026 09:49

Telethon funds Department of Biology project on Tuberous Sclerosis Complex

Anteprima Massimo Telethon

The Department of Biology is pleased to announce that the project led by Professor Massimo Pasqualetti has been awarded funding by Fondazione Telethon to investigate the neurobiological mechanisms underlying behavioural symptoms associated with Tuberous Sclerosis Complex (TSC), a rare genetic disorder caused by mutations leading to hyperactivation of the mTOR signalling pathway.

The study will be carried out at the Laboratory of Cellular and Developmental Biology and involves Dr Serena Nazzi, Dr Sara Migliarini, and the PhD candidates Marta Picchi and Giulia Gianni, in collaboration with Dr Noemi Barsotti.

The award highlights the Department’s continued commitment to advancing mechanistic research in rare diseases and to developing translational approaches aimed at delivering tangible benefits for patients.

UnipiNews

In addition to epilepsy and the development of benign tumours in multiple organs, individuals with TSC frequently experience neuropsychiatric manifestations, collectively known as TAND (TSC-Associated Neuropsychiatric Disorders), including anxiety, impulsivity, aggression, and social interaction difficulties. These symptoms have a profound impact on patients’ quality of life, yet no targeted and effective treatments are currently available.

Funded under the Telethon Fall Seed Grant 2025 call, the project aims to explore a mechanism that has so far received limited attention in the context of TSC: the role of serotonin, a key neurotransmitter in the regulation of emotional processing and social behaviour. Using a mouse model of the disease, the research team will examine the development and organisation of serotonergic projections in specific brain regions and assess whether controlled enhancement of serotonergic activity can rescue behavioural and synaptic alterations associated with the disorder.

This seed funding will enable the generation of critical preliminary data to clarify the link between serotonergic dysfunction and neuropsychiatric symptoms in TSC, potentially paving the way for innovative therapeutic strategies, including the repurposing of already approved drugs.