Motor Neurone Disease Research Centre
Motor Neurone Disease (MND), also known as ALS or Lou-Gehrig’s disease, is one of the cruellest diseases on the planet. It is a progressive, fatal neurological disease. There is no known cure or effective treatment and every day in Australia, two people will lose their battle to MND and each day, two more people will find out they have MND.
MND robs the sufferer of their ability to walk, speak, swallow and breathe, while keeping their senses and cognitive skills intact. In response, Macquarie University has assembled the nation’s largest and first dedicated MND Research Centre with a specialised team of researchers in genetics, biochemistry, cellular biology and animal models. This multidisciplinary team are collaborating and dedicating their working lives to better understand and beat MND.
The Motor Neurone Disease Service at Macquarie University manages the care of approximately 10 per cent of all MND patients in Australia.
Show your support for MND Research with a Cornflower Pendant from Coni Bijoux and 10% of the proceeds from this necklace will support MND Research.
I had only the vaguest notion of what this Motor Neurone Disease (or MND) was, when I was diagnosed. My version of this dreadful, still incurable terminal disease has progressed more slowly than other phenotypes of MND. However, thanks to the magnificent support of my wife and children; the splendid support of my employer, the NSW Department of Education and Communities; the quality of personal care provided by NSW HomeCare; the support provided by the MNDNSW; and the truly superb professional, personal, evidence-based researched clinical care provided by Professor Rowe – both individually and his clinic - I have been able to continue living as fully as I can and to continue to maintain my contribution to education through my role as Director of Learning and Development Research in the Office of the Director-General of the NSW Department of Education and Communities, and Adjunct Professor in the Faculty of Education and Social Work at the University of Sydney.
I am well aware of the research which demonstrates that people with MND who are able to access clinics such as the one established now at Macquarie Neurology, experience a greater quality and longevity of life than do those who do not have such access. I can certainly testify to the efficacy of this research, based on my own experience. Every major aspect of living with MND is covered within the MND clinic. I have been profoundly impressed by the outstanding professional and personal quality of the clinic’s operation in general, and Professor Rowe’s leadership in particular.
My first symptoms of slightly slurred speech appeared around October 2010. I was 64 and active and in good health so I ignored it until March 2011 when it was obvious that it was getting worse. My father died of MND at the age of 77 and he died within 12 months of diagnosis. His initial symptoms had been the same as mine only that he was older, so the thought of MND was in the back of my mind.
I was told it was probably familial MND and that I should see one of two specialists in Sydney. My husband and I knew what the implications were for me so we found ourselves in the car park shocked, weeping and immobilised. We were falling apart.
Fortunately for me we got an appointment with Professor Dominic Rowe at Macquarie Neurology the next week. He put us back together again with his warmth, humanity and straight talking. The MND Clinic at Macquarie University brings together all of the health professionals who can help us to manage our symptoms. It makes it possible for each patient to have coordinated action plan.
I have been living with MND for over two years now. For how much longer who knows? I can no longer speak or eat normally it is hard to keep trying to interact socially. I am fortunate that my lower motor neurones are hanging on so that I can still walk, garden, cook for my husband, family and friends. I am even still able to snorkel which I am passionate about. One thing I know for sure is that my journey so far has been made more bearable by Dominic and the team he has assembled at the Clinic with the purpose to help his MND patients live the best life possible.
In my case I have lived a very full life since being diagnosed. Despite the rapid onset of bulbous MND to my upper body I have maintained capability in my limbs throughout.
With some illnesses a positive mindset and a preparedness to endure radical treatment may win the day. MND is not like this, and I concluded early in the journey that I needed to live with the disease rather than “fight” some battle I was destined to lose. The reality is that MND always runs its course and you don’t survive but it doesn’t mean that you have to give up on life. In fact in some ways the MND diagnosis provides opportunities to enhance the life you have in ways you could not have dreamed.
This is my point about living with MND rather than battling against it. You use your energy to live the life you can rather than trying to maintain the life you had.
Cheryl passed away on Monday 09 September 2013 at her home in Narooma with her husband and family by her side.
I first met Professor Dominic Rowe in 2009 when I was diagnosed with Motor Neurone Disease, and I subsequently became an inaugural member of his MND Clinic at Macquarie Neurology. Motor Neurone Disease is insidious; no known cause, no cure. It takes over your body muscle by muscle. At this stage, all my limbs are affected - some worse than others - and I need help with just about every aspect of daily life.
The Macquarie Neurology MND Clinic provides holistic care from the team of health professionals Professor Rowe has put together. Professor Rowe also cares for his patients’ other health issues, in accordance with his commitment to holistic treatment. In addition to the Clinic’s medical team, patients benefit greatly from the expert support of Professor Rowe’s staff, who provide detailed advice and practical assistance regarding the maze of government and charitable organisations which can assist with care.
As well as caring for today’s needs of his patients, Professor Rowe is also looking to the future. He is a driving force in research – his Clinic and Macquarie University currently support several teams working on various aspects of the MND mysteries. I intend to stay around until a cure is found. In the meantime, I can’t speak too highly of Macquarie's MND clinic and its commitment to research and high-grade care.
Ian passed away on Wednesday 25 June 2014 surrounded by his loving family.
Professor Rowe's areas of expertise include Motor Neurone Disease and Parkinson’s Disease among other forms of neuro-degenerative disease. As the inaugural Professor of Neurology at Macquarie University, he is involved in research into the cause and therapies of these diseases.
Professor Gilles Guillemin is internationally recognised as a leader in the fields of tryptophan, neuroinflammation and neurotoxicity research. Gilles is currently leading a team of 12 researchers studying the involvement of tryptophan (an essential amino acid) in MND such as amyotrophic lateral sclerosis (ALS) and Spinal muscular atrophy - (SMA).
Gilles has a large network of national and international collaborations. This work has opened numerous promising research opportunities. Gilles’ team is now mostly focusing on identifying and developing new therapeutic targets for these neuroinflammatory diseases.
Professor Roger Chung is an Australian Research Council Research Fellow and leads a research program that aims to understand why particular proteins are prone to aggregation in neurodegenerative diseases.
These aggregated proteins interfere with the normal function of neurons, and the goal of this research is to identify treatments that prevent this process. This involves biochemical mapping of abnormal protein interactions, and evaluating how subtle changes in protein structure can trigger a disastrous series of events in neurons leading to their dysfunction and death. His team is also interested in understanding the role of non-neuronal cells in disease progression – these cells normally provide support for motor neurons, but appear to become toxic to neurons in MND.
Associate Professor Ian Blair’s research career has focused on determining the molecular and cellular basis of a variety of neurological disorders including Motor Neurone Disease, ALS, hereditary sensory neuropathy (HSN), Charcot Marie Tooth disorder (CMT), the spinal cerebellar ataxias (SCA), Joubert syndrome, and bipolar disorder.
At Macquarie University, Ian conceives, instigates and leads studies to unravel the molecular genetic and cellular basis of ALS/MND. In the past 5 years, his group has played a key role in several ALS gene discoveries worldwide. These discoveries have opened new chapters in ALS/MND research and produced publications in high-impact journals. His work has also led to the development of effective diagnostic tests for ALS, CMT1A and HSN1.
Dr Cole's research team is focused upon understanding and curing MND by generating zebrafish models of the disease. The fish models are created to understand how motor neurons die in MND patients. Zebrafish are an established research model organism that offers several advantages.
In particular, zebrafish are transparent, allowing us to watch motor neurons degenerate in a living fish, providing a unique opportunity to visualise and understand MND as it actually happens. Several MND causing genes that produce incorrect proteins have been identified from MND patients. Incredibly, Nick is able to insert these human genes into zebrafish which makes them produce the same proteins. His team can then try to understand the mechanism that results in motor neurone degeneration in MND/ALS. The hope is to make a breakthrough that will lead to an effective treatment or cure.
Julie is internationally recognised as a leader in the role of cellular stress responses in MND. She is interested in the basic molecular and cellular mechanisms that trigger neurodegeneration in MND, particularly the disruption of cellular trafficking processes and the role of protein aggregation.
Her research has opened up promising novel therapeutic targets which she is investigating further.