Neuroimaging big data in rare neurodegenerative diseases: an international collaboration

This project is suitable for Honours, Masters, MD, or PhD students.

Background

Hereditary Cerebellar Ataxias (HCAs) are rare neurodegenerative diseases that are associated with profound and extensive motor control impairments, predominantly affecting the cerebellum and brainstem. Neuroimaging provides a powerful tool to investigate the functional and structural alterations occurring in HCAs, and ultimately advance our understanding of these diseases. However, current studies of these diseases usually rely on small samples and are therefore limited in there scientific and clinical significance.

Our lab has teamed up with clinicians and researchers from around the world to overcome these barriers by establishing international consortia (such as the ENIGMA-Ataxia working group) and multisite research studies (including TRACK-FA and the RFC1 Natural History Study). Combined with new tools for multi-site image harmonisation (COMBAT, SynthSeg), these initiatives provide unprecedented power to define the profile, evolution, and heterogeneity of rare neurological diseases.

Aims

This study will undertake the large-scale analyses of structural and connectivity changes in HCAs using data from international consortia of clinical research sites. This work will include functional and structural MRI methods including resting state fMRI and diffusion tensor imaging (DTI) to examine cerebellar anatomical, microstructural, and connectomic changes in these diseases.

Project Potential

This project will define the profile of anatomical, functional, and connectivity changes that occur in the brain and spinal cord of individuals with hereditary cerebellar ataxias, improving efforts to define sensitive markers of disease progression (biomarkers) and characterise inter-individual variability in disease expression.