Neuro-otology: Diffusion MRI and audiological biomarkers for Friedreich ataxia disease progression

Dr. Julien Zanin’s project focuses on the auditory system as a window into disease progression in Friedreich’s ataxia (FRDA). Hearing difficulties in FRDA often appear before noticeable motor symptoms, suggesting that changes in the auditory system could serve as an early indicator of disease. The study will combine advanced brain imaging, using diffusion MRI to examine the nerve fibers that carry sound signals from the ear to the brain, with detailed hearing tests that measure how well the ear and brain respond to sound. By linking these findings with genetic information, such as GAA repeat length, the project aims to establish sensitive, non-invasive biomarkers that reflect disease burden and progression. These biomarkers will help track changes over time, evaluate potential treatments, and guide interventions to support hearing and communication in people with FRDA. Ultimately, the work could lead to earlier detection, more precise monitoring, and improved quality of life for patients.