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Abstract #2096

Modelling Joubert Syndrome: a personalized multiscale approach to investigate brain activity

Marta Gaviraghi1, Roberta Maria Lorenzi1, Stefano D’Arrigo2, Arianna De Laurentiis2, Anna Nigri3, Marina Grisoli3, Claudia AM Gandini Wheeler-Kingshott1,4,5, Claudia Casellato1, Fulvia Palesi1, and Egidio D’Angelo1,4
1Department of Brain & Behavioral Sciences, University of Pavia, Pavia, Italy, 2Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy, 3Neuroradiology Unit, Fondazione IRCCS Istituto Neurologico “Carlo Besta”, Milan, Italy, 4Digital Neuroscience Centre, IRCCS Mondino Foundation, Pavia, Italy, 5NMR Research Unit, Queen Square MS Centre, Department of Neuroinflammation, UCL Queen Square Institute of Neurology, Faculty of Brain Sciences, University College London, London, United Kingdom

Synopsis

Keywords: Rare Disease, biology, models, methods, Joubert syndrome, multiscale approch, brain activity

Motivation: Hypoplastic cerebellar vermis is the main hallmark of Joubert syndrome (JS), thus pipelines commonly applied to healthy controls must be personalized to capture the specific pathological features.

Goal(s): Here, a multiscale approach is developed to simulate personalized brain activity in JS.

Approach: MRI volumetric data is used to evaluate cerebellar changes in JS, which are then embedded in microscale models of cerebellar neuronal circuits, whose output is used to build mesoscale models (mean field) reflecting JS pathophysiology.

Results: The inclusion of reduced volume and number of cells in the microscale model of JS impacts on microscale and mesoscale neuronal activity.

Impact: Personalized pipelines for diseases, such as Joubert Syndrome, can help to investigate pathophysiology and brain activity alterations. The use of a multiscale approach can be the key to investigate brain dynamic alterations at multiple levels of complexity.

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Keywords