Lead Researcher – A/Prof Julie Atkin
Research Institution – ASAM, Macquarie University, NSW
Research Project – Optimising the protective activity of protein disulphide isomerase in motor neuron disease 

ALS/MND is a devastating disease and currently there is no effective therapeutic treatment, hence there is a great unmet need to identify new treatments that address the underlying pathology. One pathology common to the diverse forms of ALS/MND is the formation of abnormal protein clumps or ‘inclusions’ in affected motor neurons. We have identified a type of protein called a ‘chaperone’ that prevents these abnormal clumps from forming, and is protective against multiple other pathological events that occur in motor neuron cells in ALS. Whilst this chaperone is protective, it cannot by itself be used as a new drug because it is a large molecule and cannot be efficiently delivered to the brain. Hence in this proposal we aim to identify which specific features of this protein are responsible for its protective ability, so that new, drug-like molecules can be designed, based on its protective features. Secondly we will also characterise the protective activity of this protein in new disease models based on zebrafish, so that in the future, screening for new drugs can be performed in these animals, based on this chaperone protein. This study therefore aims to develop novel treatments for ALS/MND.

Lead researcher – Prof Pamela McCombe
Research Institution – UQ Centre for Clinical Research, Queensland
Research Project – A multicentre study of the impact of metabolic balance and dietary intake on the clinical parameters of disease progression 

People with MND show a loss of fat mass throughout the course of disease. This change in fat mass in MND is of clinical importance as a rapid loss of fat mass is associated with worse disease outcome. The underlying cause for the loss of fat mass appears to be linked to an increase in metabolism, which drives an increase in energy demand from the body. Interestingly, it has been reported that MND patients who receive high protein, high carbohydrate, or high fat supplements in their diet are able to maintain or increase their body weight. This in turn has been associated with improved outcome. Whether the benefits associated with dietary supplements in MND patients is due to an improved ability to meet energy demands because of the availability of excess calories remains unknown. Thus, this project aims to conduct a multicentre study that will assess relationship between metabolic balance and dietary intake, and the impact of this relationship on disease progression in MND patients. By identifying ways in which we can help the body to sustain optimal energy needs, we hope to develop metabolic strategies that have the potential to improve prognosis in MND.

This project will also develop collaboration between the RBWH/UQ MND group and the Netherlands MND centre in Utrecht.