Julien Zanin, PhD

PI/Investigator: Julien Zanin, PhD - University of Melbourne

Award type: General Research Grant co-funded with FARA US

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

Lay Summary: Although scientists understand its genetic cause of FA, there are still no reliable ways to track all the different facets of how the disease changes over time or how well new treatments are working. Current clinical tests mainly measure motor abilities, such as walking or hand movements, which can miss subtle or early changes in the disease. To develop effective treatments, we need more sensitive and objective ways to measure disease progression.

Our project aims to develop new biomarkers, that can detect changes in FA earlier and more accurately. We are focusing on the hearing system because it is particularly vulnerable in FA. Many people with FA experience hearing difficulties, especially when trying to understand speech in noisy environments. These auditory problems often appear before noticeable motor symptoms, suggesting that the hearing system could serve as an early indicator of disease progression.

We will use a combination of advanced brain imaging and hearing tests to study how the auditory system is affected in FA. Using diffusion magnetic resonance imaging (dMRI), we can look at the tiny nerve fibres that carry sound information from the ear to the brain. This imaging technique allows us to see whether these pathways are damaged or less efficient in  FA. At the same time, we will perform detailed hearing assessments, including tests that measure how well the ear and brain respond to sound, to understand how these structural changes relate to real-world hearing difficulties.

By linking imaging findings with hearing performance and genetic information (such as GAA repeat length), this study will establish new, non-invasive biomarkers that reflect disease burden and progression. These markers will be used to track changes over time and evaluate how well future treatments are working in clinical trials.

Beyond supporting therapeutic development, this research will deepen our understanding of how FA affects hearing and communication. Identifying early auditory changes could inform targeted interventions, such as adaptive hearing technologies or rehabilitative strategies, to help people with FA stay engaged in everyday listening and social interaction.

By integrating brain imaging, hearing science, and genetics, this project takes an innovative and translational approach to understanding FA. Our ultimate goal is to enable earlier detection, more precise monitoring, and improved quality of life for people living with Friedreich Ataxia.