Human neuroimaging and blood biomarkers for inherited neurodegenerative diseases

This project is suitable for PhD students.

Background

Can new human brain imaging techniques allow us to better understand, track, and treat neurodegenerative diseases?

Can blood-based proteomics/metabolomics help us to better define and predict heterogeneity in the onset and progression of neurodegeneration?

Can machine learning be applied to complex, multi-domain clinical and biological data to identify disease subtypes?

These are some of the burning questions that are at the forefront of research in our lab. Hereditary cerebellar ataxias (HCAs) are inherited neurodegenerative diseases that are associated with motor, cognitive, and neuropsychiatric impairments. These diseases result in profound disability and mortality. There are currently no cures, but the field is on the precipice of gene therapies, stem cell interventions, and targeted pharmaceuticals. Next-generation magnetic resonance imaging (MRI) and proteomics/metabolomics approaches offer powerful new methods to characterise the onset and progression of disease, to define disease subtypes, and to optimise clinical trial design by improving patient selection (stratification) and outcome monitoring (sensitive endpoints).

Aims

Multiple projects are available to undertake one or more of the following in cohorts of individuals with hereditary cerebellar ataxias:

i) Application of novel quantitiative MRI approaches to assess changes in myelination, iron metabolism, inflammation, and tissue microstructure.

ii) Determine the proteomic and metabolomic profile of disease expression and progression.

iii) Machine learning approaches to define disease clusters (subgroups) and predictive models of disease progression using clinical, imaging, and biological data.

Project Potential

These projects will improve biological understanding, treatment targeting, and outcome monitoring for debilitating, fatal, and currently intractable neurodegenerative diseases.