ARSACS Biomarker

Charting the neurodevelopmental stage of ARSACS (NeurodevARSACS): A cross-species longitudinal characterization of the early molecular changes in the brain, CSF and blood.

29/09/2021 to 31/12/2023

It is well established in neurodegenerative diseases that early therapeutic intervention - ideally before neurodegenerative cascades begin to breakdown neuronal function - is key to the success of disease-modifying therapies. Yet we do not understand the early molecular and cellular changes that precede the loss of neurons in ARSACS, let alone biomarkers which would allow us to track the earliest stages of the disease. Understanding the early changes in ARSACS will clarify fundamental molecular deficiencies, and motivate preemptive therapeutic strategies aimed at delaying, or possibly preventing, the progression of this disease.
The goals of this project are to generate a cross-species map of the developmental trajectory of ARSACS through the lens of molecular and cellular deficits in the ARSACS mouse model, and readily accessible fluid biomarkers in mice and human patients. This paired longitudinal study design will allow us to mechanistically anchor readily available fluid biomarkers with early cellular abnormalities in the ARSACS brain.