It s the biggest decision of my life.

Transcription

1 NeuRA PhD student 4 wins Fulbright History 4 lessons Take a dose 5 of sunshine I was on a big 6 adrenaline high! Benjamin Cheah has been awarded a Fulbright scholarship for his motor neurone disease research. Could a mysterious disease from the 1920s help us understand the cause of Parkinson s? Have you had a fall? You may benefit from some vitamin D. 15-year-old Trent Woodward raised funds for NeuRA in his first triathlon. The Official Newsletter of Neuroscience Research Australia Issue Number 43 Winter 2011 It s the biggest decision of my life. page 3 Previously the Prince of Wales Medical Research Institute

2 Message from our Executive Director 2 Message from our Executive Director In the last few months at Neuroscience Research Australia, we have been involved in a nationwide movement to gather support for medical research, culminating in a series of rallies across the country in April. These protests were triggered by reports earlier this year of a planned $400 million cut to funding for the National Health and Medical Research Council (NHMRC), which provides the majority of the government s support for medical research. While the cuts we feared did not eventuate, and we were delighted to learn of the Government s continued support, the situation gave us an opportunity to reflect anew on the value of health and medical research to the community. As Finance Minister, the Hon Penny Wong commented, Everyone has been touched in some way by medical research. Everyone has a family member or friend who has known the benefits of medical research. At the rallies across the country, members of the community who had in some way benefited from research spoke of the urgent need to continue investment in and support of health and medical research in Australia. David Karpin told the crowd that his participation in our stroke rehabilitation research helped him walk again after suffering a stroke at the age of 67. I am a walking example of a grateful recipient of outstanding Australian medical research, he said. There are countless examples of how our research unequivocally improves lives. As you will read in this issue of Brainworks, with the help of families who have an inherited form of Alzheimer s, we are working together with international colleagues on a way to diagnose the disease early. Another of our teams has developed a technique to more effectively diagnose motor neurone disease, which will help us develop treatments for this tragic disease. It goes without saying that we would not be able to achieve these milestones without your generosity and continued support. I d like to personally thank all of you who offered assistance and raised your voices in support of our research, whether it was through a letter, a donation or simply spreading the word about the work we do here. Your support enables us to remain committed to the institute s aims: to accelerate discovery and translate this knowledge to improving health and reducing the burden of disease. Professor Peter R Schofield PhD DSc Executive Director and Chief Executive Officer Diseases and disorders we research Alzheimer s disease Autism Balance disorders Bipolar disorder Child injury Chronic pain Dementia Depression Dyslexia Falls in the elderly Frontotemporal dementia Motor neurone disease Muscle fatigue Parkinson s disease Sleep apnoea Schizophrenia Spinal cord injury Stroke What s new on our website Would you like to find out about our achievements in 2010? Or meet some of the people who have walked though our hallways in the past year? Read about scientists, families, carers and supporters in our latest publication, NeuRA 2010 In Review. Just go to brainworks@neura.edu.au If you would like to receive Brainworks as an e-newsletter, please forward your address to brainworks@neura.edu.au Cover photo: Sam Bush is a participant in our inherited Alzheimer s disease study.

3 News 3 It s the biggest decision of my life. 27-year-old Sam Bush is facing one of the biggest decisions of his life. Greataunts and uncles, his grandmother and, most recently, his mother, all suffered from Alzheimer s disease. He knows they all carried the same gene that caused their illness. What he doesn t know is whether he also carries that gene. Sam is a participant in the US funded Dominantly Inherited Alzheimer Network (DIAN) study, located at Neuroscience Research Australia and ten other centres worldwide. The DIAN project recruits people whose family members have a genetic form of Alzheimer s. DIAN researchers study the bodies and brains of participants before anyone has any obvious outward symptoms, with the aim of developing a test to detect the disease early. An only child, Sam was his mother s primary carer until she moved into an aged care home, two years before her death last April at the age of 55. He says he first noticed problems with her memory, reasoning and personality about ten years earlier. In 2000, she had a car accident. She was deeply in shock but still her reaction wasn t normal. She couldn t give her personal details at the accident. I was 16 at the time. Only two years later, my father would pass away and then she truly deteriorated. Sam says his mother never admitted that she was unwell. Since Alzheimer s is incurable, she didn t want to know so much about it. It had affected her mother s family, so I m sure she felt anguish and personal embarrassment. Despite his mother s fear, Sam says he s sure about his decision to participate in the DIAN study. There s a realistic chance that I have Alzheimer s inherent in my DNA as well. If I do or even if I don t, I d like to think that I could make a contribution to the body of knowledge. I also want to find a cure and live longer. That s how simple it is. "I'd like to think that I could make a contribution to the body of knowledge." Sam will visit NeuRA every few years to be measured and tested. He s still not sure, however, whether to undergo genetic testing himself. [My family s attitude has been] to ignore those sorts of tests. Their thinking is, why live with a predictive burden for another few decades? But only recently have I warmed to the idea. If I have more information, then maybe I can better plan a life that anticipates a possible outcome, whether there s a cure or not. Alzheimer s: a family affair Most cases of Alzheimer s disease are not caused by genetic factors. Some people, however, carry a mistake in one of three genes which means that they will almost certainly develop the disease, usually at an early age. These people offer us the opportunity to look for early signs of disease, says Dr Bill Brooks, one of the investigators on the DIAN study. Their siblings who don t carry the genetic mutation provide a well-matched comparison group. Dr Brooks has been tracing over a dozen families in Australia, about 200 individuals in total, who are at risk of carrying an Alzheimer s gene. Not all family members will develop Alzheimer s disease; the children of affected individuals have a 50% chance of inheriting the mutation. Dr Brooks says they hope to enrol about 40 people at the NeuRA site, which will make a significant contribution to the international research effort. The generosity of the family members who participate cannot be overstated. The study will provide data that is uniquely valuable in developing treatments. And the benefits will be available to everyone with Alzheimer s disease, not just to people at risk of the genetic form. Dr Bill Brooks has been tracing families with inherited Alzheimer s disease since 1988.

4 News 4 A diagnostic test for motor neurone disease A research team led by Prof Matthew Kiernan is working on a test to diagnose motor neurone disease up to eight months earlier than is currently possible. If we can diagnose motor neurone disease earlier, we can initiate treatment much earlier, says team member Dr Steve Vucic. Motor neurone disease is a degenerative disease that affects nerve cells, called motor neurons, that control the muscles for moving, speaking, breathing and swallowing. In the early stages of motor neurone disease, the level of electrical activity in the brain increases. The new diagnostic test, called threshold tracking transcranial magnetic stimulation, employs magnetic stimulation to detect this increase. Dr Vucic says this new technique is faster and more precise than older techniques and will allow clinicians and researchers to discriminate between motor neurone disease and conditions that can look similar. The technique will also allow people diagnosed with motor neurone disease to participate in drug trials at an earlier stage in their disease. This will greatly assist our research in trying to find more effective treatments for this tragic disease, he says. NeuRA PhD student wins Fulbright PhD student Benjamin Cheah, a member of the motor neurone disease team at NeuRA, has been awarded a Fulbright NSW postgraduate scholarship to undertake research at Johns Hopkins University in Baltimore. Ben will spend 12 months in the USA learning cutting-edge statistical techniques. Ben hopes these techniques will help the team to better interpret the data from their transcranial magnetic stimulation technique, maximising its potential as a diagnostic tool. Ben says that while MND doesn t have the recognition of some other neurological diseases, he hopes this will change. I hope to use this scholarship to take a step forward in terms of becoming an ambassador for MND research in the global scientific community, he says. Ben Cheah demonstrates the team s new method of diagnosing motor neurone disease. Could a long-standing mystery help us understand Parkinson s? Dr Paul Foley says history can help us solve some of today s medical problems. A mysterious disease that swept across the world in the 1920s and 30s may offer us insight into the nature of Parkinson s disease, says medical historian Dr Paul Foley. Encephalitis lethargica triggered symptoms similar to Parkinson s disease in many sufferers. Although its effects were devastating, its cause was never found. Encephalitis lethargica had two distinct phases. During the first, acute phase, victims seemed to fall asleep, but often maintained an awareness of their environment. They would close their eyes, and just didn't have the will power to move themselves, says Dr Foley. As many as one third of sufferers died during this initial phase. In the second, chronic phase, which often commenced after a healthy interval of many years, most victims developed incurable neurological symptoms resembling Parkinson s disease. People in this stage were depicted in Oliver Sacks book, Awakenings. Dr Foley believes that by solving the encephalitis lethargica mystery, we can gain insight into the cause of some brain diseases today. Dr Foley has found strong evidence that the cause of encephalitis lethargica was a virus. We can use encephalitis lethargica as a model to investigate the notion that there may be an infectious involvement in other brain diseases, such as Parkinson s disease, and even Alzheimer s disease and multiple sclerosis. I'm hoping that these facts may help researchers piece together the puzzle, he says.

5 Donation form News 5 Please use this form to make your tax-deductible donation. Take a dose of sunshine You can also donate online at or by calling Yes, I would like to donate to research at NeuRA. Title: First Name: Surname: Address: SUBURB: phone no: Amount of my tax-deductible donation: $ My cheque/money order payable to NeuRA is enclosed. I wish to make my donation by credit card: VISA MasterCard Amex DINERS Esma Graham and Dorothy Polden enjoy the many benefits of sunshine. Card no: Exp date: / Cardholder s name: Cardholder s signature: Please return this form by fax to or by mail to NeuRA, PO Box 1165 Randwick NSW Thank you for your generous support. Have you ever had a fall? If so, it may be worth considering whether you are getting enough sunshine. Dr Jasmine Menant, working with Prof Stephen Lord, has found that regular exposure to sunshine, which maintains adequate vitamin D levels, could help prevent falls in the elderly. Sunshine and vitamin D are essential for maintaining our physical strength and cognitive abilities, says Dr Menant. Vitamin D is produced by the skin after exposure to sunlight. With ageing, the skin has less capacity to synthesise the vitamin. Also, many older people spend more time indoors due to frailty, immobility or illness. Dr Menant and colleagues found that one third of people aged 70 to 90 years were vitamin D deficient. These people were also weaker, had poorer balance and performed worse in cognitive function tests. In men, vitamin D insufficiency was also associated with an increase in falls. Sunshine and vitamin D are essential for maintaining our physical strength and cognitive abilities. Our study suggests that a balance is required between avoiding excessive sun exposure and achieving enough to maintain adequate vitamin D levels, says Dr Menant. Current recommendations state that people should expose the face, arms and hands to a few minutes of direct sunlight outside the peak UV periods on most days of the week in summer, and in winter for 2-3 hours over a week. ABN

6 Corporate and Community Support 6 I was on a big adrenaline high! On 27 March this year, Trent completed the Tinman triathlon, swimming 300 metres, riding his bike for 16.8km and topping this off with a 3km run. Trent says he s already planning his next triathlon. I was on a big adrenaline high for the rest of the day, he says. We d like to take this opportunity to thank Trent and all our other online fundraisers for their hard work and support. Trent prepares for his 300 metre swim was a big year for 15-year-old Trent Woodward. In March, his grandfather was diagnosed with Parkinson s disease, and in December a good friend underwent brain surgery to alleviate seizures due to epilepsy. In that same year, a friend from tennis was admitted to hospital with bacterial meningitis, and a friend of his mother s passed away from brain cancer. So when he was searching for an organisation to support as part of a school project, Neuroscience Research Australia seemed to be just the right place. Trent is passionate about sport and fitness and decided to raise money for NeuRA by participating in a triathlon at West Lakes, near his home in Adelaide. I love pushing myself to my limits whether it is out on the tennis court, volleyball court, running track, in the surf or at the gym, he says. With thanks to: Andrew Barry Jacqueline Bonnes Jamie Bonnes Margaret Bonnes Shannon Bonnes Emma Coleman Victoria Cooke Hye Jee Jung Joshua Martin Peta Miller Ben O'Flanagan Marnix Peper Ellen Reading Melissa Shakas Do you have something you love doing, just like Trent? Call to find out how easy it is to raise much-needed funds online. Trent with his grandfather after the race. (l-r) Stephanie Wong, Dr Claire Shepherd, Heather McCann and Carla Scicluna We would like to recognise the generous donation from the Coopers Brewery Foundation to purchase a -80 C upright freezer for the Sydney Brain Bank at NeuRA. Debora Rothmond, Tertia Purves-Tyson and Betty Ramsay at the rally in Sydney. On Tuesday 12 April, NeuRA staff and supporters joined a rally in Sydney to protest against proposed cuts to funding for medical research. Thanks to everyone for getting the message out about the importance of our work here at NeuRA.