13th MND Australia Research Conference

Associate Professor Bradley Turner (Florey Institute of Neuroscience and Mental Health) reports on the 13th MND Australia Research Conference held at the University of Sydney in November 2017.
The Hon. Dr David Gillespie MPThis year's Conference showcased major research achievements funded by the MNDRIA coinciding with the $25 Million, 25 Milestones:Changing the future of MND report, a Roadmap for the future and research outcomes from MNDRIA-sponsored projects. The Conference was launched by The Hon. Dr David Gillespie MP, Federal Assistant Minister for Health (top photo), who remarked on the recent significant investment of Government and MNDRIA funding for MND. Associate Professor Justin Yerbury from the University of Wollongong (second photo) was awarded the Betty Laidlaw MND Research Prize and Dr Mary-Louise Rogers from Flinders University (third photo) received the Charcot Grant. Janet Nash (MND Australia) was presented with a trophy for her many years of service to the MNDRIA and her extraordinary contributions to building and sustaining MND research in Australia. Thank you Janet for your limitless energy and patience!

The Conference commenced with two excellent keynote presentations highlighting the significant impact of MNDRIA-funded research on a global scale. Associate Professor Ian Blair (Macquarie University) summarised the staggering progress in genetic discovery in MND. While it took over a century to find the first culprit gene for MND, recent next-generation DNA screening technology has narrowed this gap to years.  As a result, 10 MND genes have been discovered from MNDRIA-funded projects. Aside from shedding light on the causes of MND, these genes have revealed shared molecular origins of MND and frontotemporal dementia, dissolved barriers between inherited and sporadic MND, and inspired a generation of innovative experimental models to tackle MND in the laboratory. Next, Professor Steve Vucic (University of Sydney) summarised over a decade of clinical research by Professor Matthew Kiernan and their team, providing compelling evidence that MND is fundamentally a disorder of electrical circuits in the brain, leading to subsequent spinal cord and muscle damage. Importantly, electrical overload in the brain of MND patients can be detected by a sensitive and non-invasive technique called "TMS" that Professor Vucic and colleagues have recently commercialised, which may provide a powerful tool to diagnose and track MND in the clinic.

Assoc Prof Justin YerburyAssociate Professor Tracey Dickson (Menzies Institute for Medical Research) opened the Roadmap for the Future session, outlining the important contribution of experimental model systems such as flies, worms, fish and mice to MND research.  Although these simple organisms have obvious inherent limitations, their implementation and interpretation in MND research is continually improving. Human-based models of MND were presented, ranging from stem cell reprogramming to mini-brains "on-a-chip", suggesting we are at an exciting advent of highly relevant and digital models for rapid drug screening in MND. Dr Peter Crouch (University of Melbourne)
 summarised his team's 10-year journey in the making with positioning CuATSM as a possible therapeutic option for MND which is currently under clinical trial in Australia. Dr Michelle Farrar (University of NSW) provided an overview of Spinraza, the first approved therapeutic for the fatal childhood motor neurone disease, spinal muscular atrophy (SMA), recently approved in Australia. While Spinraza continues to demonstrate unprecedented and remarkable benefits in children affected by SMA, this was tempered by the future realities of implementing such an expensive drug and its challenging route of delivery directly into the spine. Lastly, Dr Anne Hogden (Macquarie University) provided insights into how we can best translate research into practice, reminding us that making research useful to MND patients and their families is the big picture goal of research. After lunch, several current MNDRIA-funded projects were highlighted.  While MND typically presents in late-life, the disease process may span years and decades before symptom onset. Associate Professor Brad Turner (Florey Institute) outlined his team's approach to understand the molecular processes of this critical early time period which could provide fresh insights into motor neurone vulnerability. 
Dr Chris Bye (Florey Institute) presented evidence for spread of pathology in brains of MND mice which received healthy nerve cell grafts, suggesting a biological mechanism for the characteristic spread of pathology, and perhaps symptoms, in MND. "Could MND result from accelerated ageing of chromosomes?", was a question posed by Associate Professor Julie Atkin (Macquarie University) who found the ends of chromosomes, called telomeres, were shorter in MND affected cells. This suggests DNA instability and damage may contribute to the disease process in MND.
Next, Associate Professor Anna King (Wicking Dementia Research and Education Centre) showed TDP-43 triggered abnormal branches and connections in motor neurones, reinforcing the notion that MND is a disorder of connectivity in the nervous system. Associate Professor Trent Woodruff (University of Queensland) provided an update on targeting the blood-related complement system in MND, revealing a novel role for the "C5aR1" molecule in muscle and extending the role of the complement system to muscle. Lastly, Dr Albert Lee (Macquarie University) summarised his efforts to understand the biology of CCNF mutations, a newly identified gene responsible for MND, revealing these mutations interfere with self-cleansing of damaged proteins in motor neurones which is a pathological pathway in MND.

MND Researchers 2017
In the final session, Dr Adam Walker (Macquarie University) presented his findings on protein signatures detected in affected tissues of a novel TDP-43 mouse model of MND, revealing widespread protein disturbances that may point to early disease pathways. Associate Professor Ron Sluyter (University of Wollongong) reported on effects of targeting the "P2X7 receptor" linked to inflammation and motor neurone death in MND mice using an improved brain-penetrating drug. Dr Shyuan Ngo (University of Queensland), revealed new insights into the link between abnormal whole body and muscle metabolism occurring in MND patients. Ashley Crook (Macquarie University) highlighted current issues and dilemmas with genetic testing in inherited MND, weighing up costs and benefits and existing barriers in the event of mutation detection. Lastly, Dr Mehdi Van den Bos and Dr Nimeshan Geevasinga (University of Sydney) summarised encouraging progress with developing and enhancing TMS with MRI to probe brain dysfunction in MND.

The evening Poster Session provided an engaging mix of clinical, healthcare and scientific research presentations and discussions inspiring collaboration outside the platform communications and the best Poster Prize was awarded to PhD student Samantha Levin (University of Queensland). Overall, the 2017 MND Australia Research Conference showcased world-class research achievements driven by a dedicated MND workforce (bottom photo) built up over the last 30 years of MNDRIA research investment, determined to change the future of MND.

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