Ref. 4365_Att. 3 - Translational Neurogenetics: From Molecular Diagnosis to Innovative Therapies for Hereditary Neuromuscular and Neurodegenerative Disorders

The researcher will conduct activities in the field of neurogenetics, with a specific focus on early diagnosis, optimization of molecular diagnostic pathways, and the development of innovative therapeutic strategies for hereditary neuromuscular and neurodegenerative disorders. The research activity will be focused on the application of third-generation sequencing technologies and multi-omic approaches for the identification of novel disease-associated genes or pathogenic mechanisms, as well as for the functional characterization of detected genetic variants, with the aim of improving diagnostic yield and validating new therapeutic targets. If relevant, the results of the research will be translated into clinical practice through the development of integrated and personalized diagnostic and therapeutic pathways, with the goal of improving patient overall care.