Patient-Specific Disease Models for Investigating Homer1 Gene Mutations: Implications for Neurological and Cardiovascular Conditions

The primary aim of the project is to gain a deeper understanding of and develop effective treatments for neurological and cardiovascular disorders linked to abnormal calcium signalling due to mutations in the Homer1 gene. To accurately reflect the pathophysiology of affected individuals, the project stresses the importance of using patient-specific neuronal disease models, with emphasis on astrocytes, another cell type of central nervous system, which is critical for synaptic plasticity and calcium signalling. Additionally, given that Homer1 has a potential role in modulating calcium signalling in the heart, it is crucial to investigate its impact on cardiac function and pathology. A cell bank of four iPSC Homer1 lines will be utilized in this project to generate neuronal and cardiac cellular models to comprehensively explore the pathophysiological spectrum of Homer1 variants and to develop effective treatments for associated conditions.