Biomarkers are recognized as critical tools for developing new therapeutics, allowing improved and better informed clinical trial design through indicators of target engagement and those that enable patient stratification. In addition, biomarkers can facilitate the evaluation of therapeutic intervention on disease progression or recurrence.
Eyes as a window to the brain provide this unique opportunity for investigating neurodegenerative conditions. New technologies such as Corneal Confocal Microscopy (CCM), Optical Coherence Topography (OCT) and angiography (OCT-A) allow us the possibility of using novel ophthalmic markers as biomarkers of disease severity in hereditary neurodegenerative disorders, including Huntington’s disease (HD), Multiple Sclerosis (MS). Ophthalmic findings are common features of neurodegenerative disorders and, in addition to being clinically important, have emerged as potentially useful biomarkers of disease progression in several conditions. Given the clinical ease of techniques such as CCM, OCT we seek to establish novel ophthalmic markers in patients with neurodegenerative disorders as a potential biomarker for disease stratification.
Clinical evaluation, neuroimaging, and biochemical biomarkers have been extensively investigated at our target neurodegenerative conditions, particularly Huntington’s disease (HD), Parkinson Disease, Fabry Disease and Multiple Sclerosis, but none has been established. At the moment, there is no specific treatment exists for this devastating disease. There is an urgent need to discover non-invasive, accurate surrogate biomarkers for disease progression and classification. Accurate classification is essential to identifying which tools are appropriate markers for particular individuals.
This PhD proposal will focus on the discovery and establishment of these novel biomarkers in these neurological conditions. The results of this PhD study will allow us to address these by applying these novel ophthalmic biomarkers as potential endpoints and may present the opportunity to initiate disease-modifying treatment.
Many resources are available to enable the student to make excellent progress in their studies. The project will offer the student opportunities to train in experimental medicine (clinical) research, emphasising eye physiology and pathophysiology, protocol development, working with complex datasets, and engaging with research patients and participants.
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