11.2022 - 02.2026

Develop in vitro models of rare and more prevalent neurodegenerative diseases using iPSC-derived 2 D and 3 D cell cultures of patients.

This project focuses on the development of advanced in vitro models to study neurodegenerative diseases, including rare conditions such as Autosomal Dominant Leukodystrophy (ADLD). Patient-derived induced pluripotent stem cells (iPSCs) are differentiated into neuronal cell types and applied in both 2D cultures and 3D organoid systems to investigate cellular, structural and nuclear alterations associated with disease processes. Complementary characterization of patients' cerebrospinal CSF is done via metabolomic profiling to capture molecular and biochemical signatures of the disease and link cellular findings with clinical samples. By integrating these methodologies, the project aims to establish robust and versatile platforms to explore disease mechanisms, improve early diagnostic strategies and guide the discovery of potential therapeutic targets and biomarkers. 

The generated models have wide applications, ranging from fundamental research to translational and clinical contexts. They can be used for high-capacity drug screening, biomarker discovery, and design of personalized medicine approaches that consider patient-specific variability. Furthermore, they provide strong pharmacological applicability, serving as preclinical testing platforms for therapeutic candidates, enabling evaluation of efficacy, safety and mechanism of action in human-relevant systems. By capturing both molecular and cellular alterations, these models help bridge the gap between basic science and clinical implementation, accelerating the development of targeted treatments for rare and more prevalent neurodegenerative conditions, and supporting innovation in precision healthcare.

Settori Scientifico Disciplinari

BIO/16  HUMAN ANATOMY

Spoke 6 : Neurodegeneration, Trauma and Stroke

Link al Sito