MOLECULAR MECHANISMS AND THERAPEUTIC STRATEGIES IN CMT1 NEUROPATHIES

Charcot–Marie–Tooth (CMT) disease comprises a heterogeneous group of inherited peripheral neuropathies for which effective therapies are still lacking. Limited understanding of the molecular and developmental mechanisms underlying the most common CMT subtypes represents a major obstacle to therapeutic progress. This thesis addresses this gap by investigating two complementary aspects of CMT pathogenesis and treatment: the developmental origins of CMT1A neuropathy and a targeted therapeutic st...

Extending Human Capabilities with Sensorimotor Augmentation and Physical Metaverse

Extending human motor capabilities through the integration of artificial devices represents a central challenge in human-robot interaction and assistive robotics. In recent years, human sensorimotor augmentation has emerged as a promising approach to enhance motor function by introducing supernumerary robotic limbs that provide additional degrees of freedom operating alongside the natural human body. Effective sensorimotor augmentation requires not only reliable control strategies, but also c...

New Media in Design Publishing: la sfida del web 3.0

La ricerca analizza le trasformazioni dell'editoria di architettura e design nell'ecosistema digitale contemporaneo, attraverso l'analisi comparativa di casi studio e interviste a professionisti del settore.

Validation of HUMAN PHENOTYPE ONTOLOGY (HPO) terms and development of an Artificial Intelligence-based diagnostic tool for systemic autoinflammatory diseases using the EUROFEVER Registry: the ODINO project

Background: Systemic autoinflammatory diseases (SAIDs) are a heterogeneous group of disorders caused by dysregulation of the innate immune system, frequently presenting with recurrent fever and systemic inflammation. Despite major advances in molecular genetics, diagnosis remains challenging due to overlapping clinical features, variable expressivity, and incomplete genotype–phenotype correlations. Accurate disease classification is therefore crucial for early diagnosis and therapeutic optimi...

Genere, In/sicurezza e Spazio urbano. La percezione della sicurezza delle donne a Genova nella dimensione quotidiana

This thesis reconstructs women’s “geographies of fear” in urban contexts by analysing the relationship between (in)security and male violence, and by examining how dynamics of exclusion and practices of spatial appropriation contribute to shaping women’s perceptions. Through an intersectional perspective, the research aims to show how perceptions of safety and everyday practices are mediated by the social position of the women involved, and how, in increasingly heterogeneous cities, different...

Novel Methods for Assessing and Rehabilitating Binocular Sensorimotor System in Virtual Reality

The ability to coordinate the two eyes to achieve a stable and unified perception of the world is a fundamental aspect of human vision. This process, which relies on the continuous interaction between sensory and motor components, allows us to perceive depth and maintain precise alignment during everyday activities. When this coordination fails, as in strabismus or amblyopia, binocular function deteriorates, leading to abnormal fixation, loss of stereopsis, and suppression of one eye. De...

The “Comparison of STep-up and step-down therapeutic strategies in childhood ARthritiS” (STARS) trial: patients’ outcome at six months

Background The “comparison of STep-up and step-down therapeutic strategies in childhood ARthritiS” (STARS) trial aims to investigate whether an early aggressive therapeutic intervention, based on the initial start of synthetic and biologic DMARDs (Step-down strategy), is superior to an approach based on treatment escalation conducted following the treat-to-target principle (Step-up strategy), in children with Juvenile idiopathic arthritis (JIA). Objectives This randomised clinical trial ...

Unraveling the Pediatric Hyperinflammatory Continuum: A Comparative Clinical and Genomic Analysis of Kawasaki Disease and MIS-C (Multisystem Inflammatory Syndrome in Children)

Nanoparticle-membrane interactions: insights from biomimetic models

Among technology-derived nanomaterials, engineered nanoparticles have been extensively studied to develop novel applications in biology and medicine, including cancer treatment, bioimaging, biosensing, tissue engineering, drug and gene delivery. The majority of these biomedical applications lead to the inevitable interaction between nanoparticles and the cell membrane, which is the first biological barrier that nanoparticles encounter once introduced into the organism. Understanding nanoparti...