Success stories and newsletter
Helping families using genetic sequencing
Professor Deborah Schofield, Director of the Centre for Economic Impacts of Genomic Medicine (GenIMPACT) and a multidisciplinary team of clinicians and scientists and clinicians have paired up with partner organisations Illumina, Neurogentics Service, Royal North Shore Hospital, Sydney Children’s Hospitals Network (SCHN), Clinical Genetics Service, Randwick, Genome.One, NSW Health Pathology’s Genetics Laboratory (Randwick) and Genetic Alliance Australia (GA) to tackle the complex and devastating issue of genetic disease diagnosis.
Patients and families affected by a Genetic Disease (GD) face a lifetime of social and economic impacts, including: financial pressure, relationship strain, poor carer physical and mental health as well as fear and uncertainty about recurrence in future children. GDs are estimated to account for 10% of infant mortality, 20% of paediatric hospitalisations, and 10% of inpatient hospital costs.
The Human Genome Project and Whole Genome Sequencing (WGS) has brought many benefits to human health and our understanding of human diseases and has enabled the identification genetic mutations in thousands of diseases. However, these extraordinary advances in technology have not converted to accurate and accessible diagnostic tools for GD patients. There is also no comprehensive economic model of the costs and benefits of technologies such as whole genome sequencing (WGS) and thus limited capacity to estimate the potential economic benefits of preventing or treating GDs.
Addressing the problem
“There is currently a significant gap between the promise of genomic medicine and the economic evidence needed to make it accessible to all families who need it”, says Professor Schofield. “This proposal will fill this gap and provide evidence to be help health departments develop policies and new services for GD patients and their families to access this new technology and obtain a genetic diagnosis to improve their health outcomes with precision medicine.”
She adds, “With the price of genomic testing becoming increasingly affordable, many more families could soon be able to obtain an accurate genetic diagnosis, resulting in targeted management and avoidance of ineffective treatments, some of which may have serious adverse consequences. Further, a genetic diagnosis provides information to assist with family planning. For families with a low risk of GD recurrence, it can restore reproductive confidence. Where the risk is high, it facilitates access to testing providing access to IVF and pre-implantation genetic diagnosis (PGD) to ensure the health of future children.”
The project will facilitate a remarkable step forward from current practice where the vast majority of families affected by a GD have no definitive diagnosis, and for those who have a diagnosis, this project will vastly improve the median time from first contact to establishing a causal mutation which, for some conditions, can currently take over 15 years.
From research to impact
Funded under the Australian Government NHMRC Partnerships Grant Scheme, the research team will work closely with partner organisations to assess the health and economic benefits of rapidly translate results into real gains for patents with GDs and their families by shifting genomic testing techniques into clinical services so that patients can access whole genome sequencing (WGS), obtain a genetic diagnosis and improve their health outcomes.
This will be the first study internationally to model the social and economic impacts of an important group of severe GDs and the potential benefits of WGS, thus addressing a critical policy shortfall. Early, precise diagnosis would create a dramatic shift in management focus away from a long, costly, often fruitless diagnostic journey, to timely diagnosis, targeted therapy and informed family planning. This project brings an innovative and sophisticated cross-portfolio approach to the assessment of impacts of severe GDs for both State and Commonwealth governments.
Ultimately, it will provide better evidence to support diagnostics and targeted therapies to improve the lives of Australian families.
Past Success Stories
Cancer cage fight - May 2018
Although great advances have been made in the diagnosis, prevention and treatment of cancer, it remains one of Australia’s leading causes of death. Treating cancer often involves the use of chemotherapy drugs that dose the whole body to target fast growing cells, causing unwanted side effects.
One of the most promising avenues for cancer treatment is to treat tumours and other cancers at their source, using targeted drug delivery. Until recently, however, finding the right vehicle to deliver a therapeutic cargo when and where it is needed most has proven elusive.
Now Dr Andrew Care, a research fellow in the Department of Molecular Sciences, is researching whether biological nanoparticles may hold the answer.
He is using genetically engineered bacteria to produce biological nanoparticles that can be loaded with drugs to target cancer. These nanoparticles self-assemble from multiple protein subunits into cages that look like hollow balls.
“Protein cages naturally occur in microorganisms like archaea and bacteria, and one of the cages that we are using come from a bacterium found in hydrothermal vents off the Italian coast,” explains Dr Care.
“This project combines synthetic biology and nanotechnology to develop new protein nanocages (see image) for the targeted delivery and controlled release of therapeutics in the treatment of cancer,” he says, adding that he is leading the project in collaboration with Associate Professor Anwar Sunna, with support from the ARC Centre of Excellence for Nanoscale BioPhotonics (CNBP) and other Australian and international collaborators.
He was recently awarded a 2018 Early Career Fellowship from the Cancer Institute New South Wales (CINSW) to fund the research project, while PhD candidate Ms Dennis Diaz, who is one of three PhD students in the research team, was awarded a Research Scholarship Award worth $10,000 from the translational cancer research centre, Sydney Vital.
Flicking a switch
More than 900 protein cage-expressing microorganisms have been identified, with some producing larger cages that are capable of carrying more drugs or others with larger holes in their structure, potentially allowing different approaches to releasing therapeutics.
“In the lab we make empty cages, load them with therapeutic cargo (proteins or drugs) and then target them towards the diseased cells,” Dr Care says.
Each ‘cage’ is about 25nm in diameter, perfectly round and uniform sized, and releasing its cargo is as simple as flicking a switch – well almost.
“We can engineer these cages to have light switches that trigger the cages to disassemble when you shine light on them, causing the loaded drug to be released,” he adds.
The location of the cages is detected using fluorescent imaging technology. When the cage reaches the target area, lasers are used to shine light onto the cages and release the drug.
“Using the light allows the researchers to track its progress, and localise the delivery of the drug in the right place and at the right time,” Dr Care says.
Dr Care previously worked in the CNBP, which develops innovative nanotechnologies to study biological processes with the human body. While there, he developed methods of attaching proteins to inorganic nanoparticles for drug delivery, but says that inorganic particles can sometimes be difficult to dissolve and are not always biologically compatible and can even be toxic, significantly limiting their application in humans.
“The big difference with this project is that we’re using biological nanoparticles, not chemical or synthetic composites, which are often not compatible with human biology because of their insolubility, size, shape, and complex surface chemistries, which inhibits their use in targeted pharmaceutical delivery”.
“All going well these biological nanoparticles will be a customisable platform for the delivery of different drugs to target a huge range of issues, from cancer to neurodegenerative diseases,” he says.
Switched on to learning - February 2018
Being a good learner translates to higher results at school or university, better socioeconomic status, the ability to work harder or longer and better work-life balance.
But what makes a good learner? Cognitive scientist Dr Nicholas Badcock is aiming to find out as part of his new prestigious Macquarie University Co-Funded Fellowship, which will combine state of the art neuroimaging technology with innovative research methodologies. He will work in collaboration with fellow cognitive scientists, Mr Nikolas Williams, and Prof Genevieve McArthur.
“I am interested in how being switched on – that is, a person’s ability to pay attention, take in information and their speed of decision making – underpins complex functioning and impacts important issues like learning to read,” says Dr Badcock.
The team aims to discover the neural markers of successful learning, which will pave the way for training the brain to learn better in people with learning difficulties.
The neurons that make up our brains are constantly firing as they communicate by passing tiny electrical signals between themselves. Although the signals are tiny, when many neurons fire in synchrony, such as in response to sound or another stimulus, the electrical activity – which appear as oscillations or waves – can be measured at the scalp, using electroencephalography (EEG).
Low frequency oscillations (known as alpha waves) have been associated with relaxed states of mind but also greater cognitive activity like active listening.
“Normally we look at how the brain responds to single words in a contrived setting by measuring the electrical signals that occur as words appear,” Dr Badcock says.
But when someone is reading a paragraph, everything happens much faster. The electrical signals in the brain are different – and more complex – because the reader is making predictions and anticipating what comes next in the sentence or paragraph.
“Signals also vary when people are listening to gibberish, compared with spoken text.”
Measuring cognitive complexity
This project will assess the relationship between these brain waves and educational outcomes to determine their value in predicting strong versus weak learners.
Using a technique pioneered in 2017 in India, Badcock and the team will explore alpha waves and EEG complexity in university student populations of varying educational abilities. Among other areas, they will measure brain activity when participants complete simple versus complex language and literacy tasks.
“These tasks are the foundations of most learning in modern western societies which suggests that neural activity during these tasks is likely to discriminate between good and poor learners.
The research will measure participants’ brain activity when listening to speech in quiet versus noisy environments to examine how the brain accommodates increased difficulty.
Student volunteers will also be assessed when listening to native versus non-native speech to establish EEG descriptors specific to comprehension.
Finally, students will be exposed to paragraph readings of varying complexity to explore the relationship between successful and less successful learners of reading whilst they read texts that vary in complexity.
Game changing technology
In the past, medical grade neuroimaging technology has been prohibitively expensive, limiting the scope of research that could be undertaken. Fortunately, Macquarie’s collaborator on this project is bioinformatics and technology company EMOTIV, whose Australian arm recently moved to Macquarie’s Innovation Hub.
In 2009, EMOTIV released a low-cost electroencephalography (EEG) system that is also wireless and portable. In addition to reading the raw data, the system can give users the ability to control virtual and physical objects using only brain waves.
“The technology was a game-changer not only for users but also cognitive scientists who found that it is almost as good as medical grade EEG systems that cost around $100,000. The gaming device can be used with children, including those with special needs such as autism,” Dr Badcock says.
The partnership between EMOTIV and Macquarie will harness the existing recognition software for cognitive and emotional states (currently consisting of stress, focus, excitement, relaxation, engagement, and interest).
Dr Badcock says this will both enhance the user experience and widen EEG and neurotechnology’s application to fields including virtual and augmented reality, artificial intelligence development, neuromarketing, neurofeedback applications for neurological conditions such as post-traumatic stress disorder and attention deficit hyperactivity disorder, and for general consumer use in optimising brain performance and wellness.
While these outcomes are important, Dr Badcock’s focus remains on helping students with learning difficulties.
“Literacy is widely recognised as the road to human progress and to realising potential,” he says. “This research will hopefully open new avenues to helping students master the critically important life skill of reading.”
Understanding the impacts of a regional ‘superpower’ – from the age of the pyramids - November 2017
Globalisation has hammered home the message that the actions of major developed countries can significantly impact trading partners as well as those sharing geographical boundaries. Less well understood are the impacts of power plays, trade and social instability in ancient societies like ancient Egypt on their neighbours.
That’s all about to change, thanks to the Department of Ancient History’s Dr Karin Sowada, who is an expert in the interaction between Egypt the eastern Mediterranean during the Early Bronze Age (3100-2000 BC). She was recently recognised with an Australian Research Council Future Fellowship, and will be leading the project 'Pyramids, Power and the Dynamics of States in Crisis'.
“Traditionally, archaeology in the Middle East tends to be segmented and specialised, with researchers focused on their own patch,” Dr Sowada says, adding “it can be hard to lift above the geographic parameters in which you work to link archaeological results in a coherent way.”
She says she was inspired by the work of the late Professor Basil Hennessy, who was a leading scholar in the archaeology of the Levant (eastern Mediterranean), and whose work put the evidence he found within a broader international context.
“Archaeological, historical and scientific data points to the possibility that Egypt during the third millennium BC was a major state actor and driver of economic, political and social change in the wider region. The kings of Egypt had a voracious appetite for imported luxury products such as cedar from Lebanon which was unavailable locally. We know that economic exchange mechanisms are a driver of cultural and social change, but the ‘x factor’ of internal politics and how leadership responds to threats and challenges, such as environmental change, also drives decision-making and economic policy settings.”
Dr Sowada says climate variation had a significant impact on the functioning of the Egyptian state.
“The Nile River was the lifeblood of the Egyptian economy and the annual inundation was much anticipated and measured by the administration. Low floods caused by climate events beyond human control had a huge impact economically and politically.
“Knowing how Egypt dealt with this stress during the period when the pharaonic state reached its developed form, will help increase understanding of the role of politics, climate change, trade and the movement of people across a wide geographic area over a long chronological range.
“It will also help us understand the ‘big E’ environment in which the Egyptian state operated, and what impact its engagement had on the rest of the Levant.
Dr Sowada’s own background has been diverse – she has worked in politics, public policy and archaeology, while holding leadership positions in several charitable organisations. In the early 1990s, she broke new ground as the youngest woman Commonwealth senator. Her political experience was followed by almost a decade working as Assistant Curator of the Nicholson Museum where she conducted extensive research on its collection of Egyptian antiquities as well as participating in archaeological excavations in Australia, Egypt and Jordan while working towards her doctorate in Egyptian archaeology in 2002.
Her PhD thesis was a foundational study on Egypt’s foreign relations in the third millennium BC and has formed the basis of the Future Fellowship work.
Dr Sowada says that even though the events she is studying happened in the distant past, they offer insight into the modern world.
“Take China’s One Belt, One Road initiative [which will see it renew the old Silk Road trading route over land, and develop maritime routes that connect southern China to South-East Asia and the east coast of Africa to advance its strategic and trade interests].
“China is pursuing its own interests through trade, political influence, and infrastructure investment. This policy will have a huge impact on neighbours and trade relationships.
“This project allows us to track the progress of a similarly influential state in the ancient world,” she says.
New National Centre of Research Excellence in Digital Health Research - October 2017
The Centre for Research Excellence (CRE) in Digital Health will be led by Professor Enrico Coiera at the Australian Institute of Health Innovation. It brings together for the first time all the major Australian academic centres of health informatics research, with the support of the new Australian Digital Health Agency and the Australasian College of Health Informatics. Other members of the CRE include Bond University, the University of South Australia, the CSIRO Australian e-Health Research Centre, the University of Sydney, the University of Melbourne and the University of New South Wales.
“Digital Health is rightly seen as a critical tool to improve the quality, safety and effectiveness of healthcare. Doing that however requires a solid research base to help understand how to make changes to the complex system that is healthcare” said Professor Coiera. “Through this Centre of Excellence, researchers and front-line service providers will tackle fundamental challenges that impede the creation of truly safe, efficient and effective digital health services for both clinicians and consumers. If Australia’s health system is to benefit from this digital revolution, we will need much more than just technology. We urgently need the evidence, skills and workforce to translate these advances into effective working health services”.
The CRE has a number of programs that it will support over its five years of operation, covering both research and support for policy development and training:
- Working with the Australasian College of Health Informatics (ACHI), the CRE will create a new Fellowship Program in Health Informatics, to help build the urgently needed national capacity in digital health research to meet our rapidly expanding national health service needs. The four-year research Fellowship has two components - a three-year doctoral program in health informatics and a one-year program of work placements. At the completion of training, candidates will be awarded a doctorate and an ACHI Fellowship. This will be the first pathway to Fellowship of ACHI that involves completion of a formal training program. A Fellowship is currently awarded solely based on length and quality of past experience. The Australian Digital Health Agency has supported the Fellowship proposal, and will be amongst the first organisations to offer Fellowship trainees paid work placements which forms part of the training program. Other organizations that have expressed interest in taking Fellowship trainees on placement include leading digital health software companies, state government e-health agencies, and public sector health service providers such as large hospitals.
- Rapid response function. Making evidence-based decisions is a major challenge for policy makers, health services and industry who operate often on tight timeframes, and may not have access to the research literature or be set up to analyze it effectively. Many questions also test the boundaries of the research literature. The CRE will conduct rapid literature reviews in answer to critical questions from the community, with an emphasis on maintaining a neutral and independent position, whilst still meeting the needs of key bodies such as the Australian Digital Health Agency.
- Research Programs: Given that many barriers to success lie less in the design of new technologies, and more in their translation into working systems, the CRE will specifically target the major evidence gaps that exist in our understanding of how to successfully implement and monitor digital health. Australian researchers individually are at the forefront of health and biomedical informatics research internationally. Through the CRE, we will come together to deliver an integrated research program to understand the implementation challenges faced by digital health interventions when translated into real-world settings. It will make crucial contributions to national digital health policy and practice by translating these insights into improved digital health design, implementation, performance and surveillance.
Research will focus on three streams of work:
- Safety and quality of digital health systems: To reduce the risk of patient harms from IT, the CRE will fund the development, evaluation and support of an automated IT critical incident database, which will extract and collate reports from national and international incident report databases. CRE investigators will disseminate critical IT alerts in response to significant new risks identified in the reports. Additionally, the CRE will conduct research into automated surveillance methods to detect clinically significant problems associated with the safety and quality of IT, suitable for use in large health service organisations such as hospitals and general practice networks. Working with clinicians and clinical informatics professionals, we will also trial dashboards for IT surveillance systems to provide early warning of events such as downtimes.
- Advanced clinical analytics: The CRE will undertake a research program to help translate the next generation in decision support technologies into practice, in support of better, and safer, clinical and population decision- making. It will undertake an internationally innovative research program to evaluate the impact of data and text analytics decision support tools such as dashboards for clinical and public health decision-making. A major focus of the work will be to identify which clinical decisions are most in need of decision support, how this decision support fits into the clinical workflow, and the formulation of design and implementation processes for these new tools.
- Consumer digital health: The CRE will work with consumers, system designers and service providers to carry out highly novel and much needed research into the factors that lead to successful implementation of consumer digital health tools. It will study the relationship between outcomes and the different features of consumer apps, users, and the context of use. It will seek to develop evidence-based guidelines for the design of consumer apps and the health services in which they are embedded.
Centre for Research Excellence in Implementation Science in Oncology funded to translate research to better patient care - October 2017
The Centre for Research Excellence in Implementation Science in Oncology (CRE-ISO), led by Professor Jeffrey Braithwaite, has been awarded $2.5 million by the NHMRC to develop new evidence-based treatments for cancer patients.
“We need a concerted effort and training for the next generation of researchers and clinicians to translate what we know into improved practices,” explains Professor Braithwaite.
“This Centre for Research Excellence harnesses new ideas in implementation science to make improvements to clinical care. Researchers will work side-by-side with clinicians, policymakers, and patients in achieving higher levels of evidence-based care.”
Participating institutions include the Cancer Institute (NSW), South Eastern Sydney and South Western Sydney Local Health Districts, Macquarie University, the University of Adelaide, University of Queensland and the Sansom Institute for Health Research. New practices generated by the CRE will be tested in the local health districts, which have some of the largest populations of cancer patients in Australia.
The CRE-ISO is underpinned by high-value research, initiatives and projects many of which are already underway. It adds extensive capacity in terms of research training, facilitates collaboration in getting more evidence into practice in cancer care, takes a fresh perspective, and is built on internationally-regarded chief investigators and associate investigators who are well established and well configured in the CRE as a very strong multi-disciplinary team.
CRE-ISO is built on internationally-regarded investigators from across Australia who are well established as a strong multi-disciplinary team. It adds considerable capacity in research training and in collaborations that will increase evidence-based practice in cancer care.
“Supported by the funding, we intend to create extensive new research assets (new theories, more compelling evidence, better improvement models), build further world-class capacity, provide research training for the next generation and secure further fellowships, partnerships and project grants,” Professor Braithwaite says.
CRE-ISO’s planned activities include:
- analysing network behaviours and characteristics in two cancer delivery hubs in New South Wales;
assessing barriers to and facilitators of implementation;
- assessing the further potential of eviQ, a world-regarded web-based platform for delivering evidence based care;
- enrolling and developing researchers, policymakers, mentors and opinion leaders to strengthen take-up rates of evidence;
- running studies to demonstrate the efficacy of new models of care based on multi-disciplinary teamwork; and
- conducting studies with international partners to strengthen consumer-based and consumer-led cancer care.
Partnership Projects success for the Centre for Health Systems and Safety Research - October 2017
The Centre for Health Systems and Safety Research (CHSSR) in the Australian Institute of Health Innovation (AIHI), conducts innovative research aimed at understanding and improving the way in which health care delivery and patient outcomes are enhanced through the effective use and exchange of information.
The Centre, led by Professor Johanna Westbrook, is internationally recognised for their work. Their research is highly competitive with other international research teams and their own research program is characterised by strong engagement with national and international academics from a broad range of disciplines, health practitioners, government bureaucrats, policy-makers and information system industry leaders.
Minister for Health and Minister for Sport, the Hon. Greg Hunt MP, announced two National Health and Medical Research Council (NHMRC) Partnership Project Grants awarded to the Centre. The Partnership Project Grants totals over $4 million which is cash from both the NHMRC and partnering organisations. The partners have also contributed a further $1.1 million in in-kind contributions.
The first NHMRC Partnership Project Grant is led by Professor Johanna Westbrook.
Creating a culture of safety and respect: a controlled, mixed methods study of the effectiveness of a behavioural accountability intervention to reduce unprofessional behaviours.
In healthcare unprofessional behaviours are common. They can include overtly inappropriate and hostile behaviour, such as verbal abuse. They can encompass a variety of situations, and interfere with team functioning and patient safety. These behaviours are associated with high staff turnover, patient dissatisfaction, and increased medicolegal risk. The prevalence of unprofessional behaviours is likely to be underestimated. Despite this, around half of surgeons and 40 per cent of nurse’s report being subjected to discrimination, bullying or harassment.
Addressing unprofessional behaviours in healthcare is a national issue and has been set as a priority by governments, the Australian Medical Association, and Colleges. The levels of concern resulted in the establishment of a Senate inquiry in 2016. Given its ubiquity, there is a pressing need for evidence-based interventions to reduce its impact on staff and patients and normalise a culture of safety.
The NHMRC Partnership Grant in partnership with St Vincent’s Health Australia will assess the effectiveness of the Ethos program, an innovative approach to address unprofessional behaviours. The Ethos program is a structured staff behaviour and accountability intervention designed to improve staff safety, patient outcomes and experience, and hospital culture. Ethos involves a process of early, non-punitive and tiered interventions. The project will assess the effectiveness of the program to reduce unprofessional behaviours and improve patient safety.
The second NHMRC Partnership Project Grant is led by Dr Melissa Baysari.
Optimising computerised decision support to transform medication safety and reduce prescriber burden
Drug-drug interaction (DDI) errors occur when two or more drugs interact with each other in such a way that the effectiveness or toxicity of one or more of the drugs is altered. DDIs can result in adverse effects (e.g. bleeding) and lead to therapeutic failure. A strong relationship exists between the number of drugs prescribed for a patient and the probability of a DDI error. Hospital patients are prescribed on average 12 medications, making it highly likely that a DDI error will occur.
Despite an absence of robust evidence of effectiveness, enormous resources continue to be devoted to implementing decision support for clinicians in electronic medication management (eMM) systems to reduce DDI errors. This decision support comprises computerised alerts, which are generated at the point of prescribing to warn doctors about potential interactions in their patients’ medication orders. Although computerised alerts sound promising in principle, in reality prescribers are often bombarded with large numbers of alerts. The consequence is alert fatigue, where users become overwhelmed and desensitised to alert presentation, so much so that alerts are ignored. The inclusion of DDI alerts in eMM systems is likely to result in prescribers presented with hundreds of DDI alerts a day.
As medication management in Australian hospitals shifts from paper to electronic formats, organisations are faced with a difficult decision: should DDI alerts be turned on and if so, which alerts? This NHMRC Partnership Project, in partnership with eHealth NSW and eHealth QLD, will combine a robust evaluation of error rates with a human factors evaluation of alerts to answer these questions. The results will directly inform the design and implementation of computerised decision support, positively affecting
prescribing decisions for hundreds of thousands of patients and their providers.
MQ-Biotext partnership: Rich with opportunities - October 2017
A dynamic partnership between Macquarie University’s Department of Linguistics and the Canberra-based publishing company Biotext is being forged as the foundation for a multifaceted initiative in commercial, research and training activities, focusing especially on style and accessible communication.
The commercial component begins with the transfer to Macquarie University of a well-developed online style manual for scientific writers and editors, called the Australian Manual of Scientific Style (AMOSS). The 350-page online manual was developed over the last three years by Biotext’s scientifically trained staff, led by Dr Richard Stanford. Through the agreement with Biotext, Macquarie University will become the co-publisher of AMOSS and collaborate in its further development; an endeavour that will be led by Emeritus Professor Pam Peters. The revenue from individual and institutional subscriptions to AMOSS will be shared, in line with the volume of existing and new material created.
In association with AMOSS, a new multi-purpose platform will be designed by Access Macquarie for Macquarie University, to be called the Australian Style Hub. As its name suggests, it will support multiple products relating to both general and specialist written styles, so as to become the first port-of-call for those nitty-gritty issues of language. The Australian Style newsletter will again be accessible through it, as a vehicle for exchanging research and observations on current usage, and conducting language surveys across Australia. The Australian Style Hub opens a fresh chapter in Macquarie University’s long involvement in references on Australian language and style -- in dictionary-making with the Macquarie Dictionary, and contributions to the last three editions of the Australian Government Style Manual. The Australian Style Hub will also support the multilingual online termbanks (TermFinder™) developed by Macquarie Linguistics staff to provide accessible information on specialised terminology for the general public, including terms in family law (LawTermFinder) and in cancer medicine and health care (HealthTermFinder).
When it comes to making recommendations on style, usage and accessibility, Biotext and Macquarie University both take seriously the need for empirical research. A series of experimental studies is being undertaken by Professor Jan-Louis Kruger, Head of the Department of Lingustics, at Macquarie to establish the different levels of accessibility involved in accessing information in online websites, to put flesh on the bones of the existing standards of web accessibility. Media Access Australia will be a further partner in this, to ensure that the needs of those with a disability are accommodated in empirically enhanced approaches to information design. The results of this research will be synthesised for publication as a further product of the Australian Style Hub. They will also inform Macquarie’s own training courses in accessible communication and external workshops, as well as webinars to be accessed through the Australian Style Hub.
World first MS biomarker discovery lead by our researchers - July 2017
Tiny changes, huge repercussions
For neuroscientist Professor Gilles Guillemin, determining minute changes in specific chemical pathways within the brain is key to unlocking the progression of neurodegenerative diseases like multiple sclerosis (MS), Alzheimer's disease and Amyotrophic lateral sclerosis (ALS), also known as motor neurone disease (MND) or Lou Gehrig's in USA.
“We specifically look at a biochemical pathway that uses a chemical called tryptophan which is known to be involved in brain inflammation,” says Professor Guillemin.
Guillemin, who has been working in the field of Neuroimmunology for more than 24 years and in the field of tryptophan metabolism for 20 years, has shown through research that the tryptophan pathway is integral in many neurodegenerative diseases. These results have been particularly useful in the advancement of disease biomarkers, including the development of the first prognosis biomarker for MS which Guillemin and Dr Edwin (Chai) Lim recently announced in a paper published in the journal Scientific Reports.
“We have developed a biomarker test which will allow clinicians to determine which type of MS a patient has with 85-91 per cent accuracy, negating the need for patients to have to undergo an array of expensive tests to get the same answer,” he explains. “The new results show that a blood test could greatly simplify and speed up this process, which is significant for patients because it will allow their clinicians to quickly and simply make a prognosis and adapt their MS treatment more accurately and rapidly.”
Over the years, a number of key organisations have collectively provided around $1 million in funding to advance the research, including start-up and ongoing funding from MS Research Australia, an Australian Research Council fellowship, as well as grants from the National Health and Medical Research Council, the Ramaciotti Foundation, the Deb Bailey Foundation and Macquarie University.
More than 12 years later, the researchers are now working on commercialising the biomarker so that clinical labs around the world can aid MS patients in receiving a quick prognosis.
Mentoring a bright young star
Over the past few years Professor Guillemin has been working with Dr Lim, an emerging young analytical biochemist with highly specialised skills when it comes to investigating tryptophan metabolism. With only five years of postdoctoral experience, he already holds two patents and is a technical consultant with Michigan State University in the USA.
Working within the Guillemin laboratory, Lim is aiming to generate large amounts of clinical data for the biochemical pathway that uses tryptophan, called the kynurenine pathway, for various diseases.
“This will allow us to perform a disease wide analysis to fully delineate the role of the tryptophan processing pathway in a number of brain conditions,” says Lim.
Having published 21 peer reviewed research articles in the last three years relating to this pathway, Lim’s enthusiasm to learn more about the nuances of tryptophan metabolism led to the discovery of six compounds found to be critical in determining specific types of MS, allowing the development of the world’s first MS biomarker.
Collaborate to completion
Guillemin is currently engaged in 34 active collaborations with researchers from around the globe, including scientists from Australia, France, Spain, Chile, Brazil, USA, South Africa, Oman, Kuwait and China. For the biomarker research alone, Guillemin and Lim have worked with a large and accomplished group of researchers, including Macquarie University’s Associate Professor Ayse Bilgin, St Vincent’s Centre for Applied Medical Research Centre’s Professor Bruce Brew, Menzies Research Institute Tasmania’s Professor Bruce Taylor, Ms Sonia Bustamante from the University of New South Wales, and international collaborator, Dr Alban Bessede from ImmuSmol in France.
“We are now in the process of developing a new MS prognostic kit in collaboration with Dr Alban Bessede’s laboratory in France. To do this, we needed to develop specific and sensitive set of antibodies that are able to detect the small molecules identified as biomarkers,” Guillemin explains. “This is extremely challenging and only a few companies in the world have this expertise, ImmuSmol being one of them.”
Over the last 18 months, the researchers have been developing a commercial test kit, with the support of the Australian company Dianti MS Pty. Ltd., which they are aiming to have available to Australian pathology clinics within two years, and available to pathology labs worldwide soon after.
A simple test
The clinical MS biomarker test kit will enable patients to receive a prognosis within 24-48 hours, allowing them to start an adapted treatment regimen earlier and limiting the autoimmune damages in the brain and spinal cord caused by MS.
“This has the clear capacity to be the first ever blood biomarker for the prognosis of MS, and in doing so will meet one of the real unmet needs in the clinical management of MS,” says Dr Matthew Miles, CEO of MS Research Australia. “We have been excited to be part of the translation of this initially fundamental research into a potential clinical test.”
Currently, most existing MS therapies only work for the relapsing remitting subtype of MS, whereas some new treatments on the market actually benefit those with the secondary progressive subtype of MS. Guillemin says that a quick prognosis result from the clinical test kit will allow clinicians to quickly gauge when to stop or change MS therapies, which is critical when it comes to sparing patients the side effects and cost of unnecessary treatments.
“The results of the recent research identify biomarker components that could be potential therapeutic targets for MS and could also be used to assess the response of new drugs for the treatment of MS in clinical trials. Future research will need to look at ways to rectify the abnormal levels of these components in MS patients in order to potentially delay or halt progression of a patient’s condition,” concludes Guillemin.
Mind mapping - June 2017
For entomologist Associate Professor Andrew Barron, his research holy grail is finding out what insects think – and then creating a neurobiological model that displays the passage of those thoughts as they spark across the neural circuitry.
“I don’t believe that consciousness is outside the capacity of neuroscientific examination,” he says.
Barron, who started his research career working on flies at the University of Cambridge, decided to switch his focus to honeybees after completing his PhD, driven by worldwide concerns over pollinator decline and a fascination with how minds work. These interests coalesced around an initiative to model the insect brain.
“Although their brains are minute, bees exhibit astonishingly complex behaviour,” he explains. “This means when it comes to understanding what drives animal behaviour, insects and bees have a real advantage over other animals."
In 2001 he was awarded a Fulbright Scholarship and spent a year working with Professor Gene Robinson from the Carl Woese Institute for Genomic Biology at the University of Illinois.
More than 15 years later, Barron and Robinson continue to collaborate, recently publishing an article in Science that demonstrated that instinctive behaviours – such as honeybees’ inherent knowledge of how to communicate the location of food sources in their environment to their colony using movement and sound – may evolve from the process of learning until they eventually become hard-wired into the DNA.
They showed that both learning and instinctive behaviours are regulated by the same cellular and molecular mechanisms, adding to the growing body of research in the exciting new field known as epigenetics, and proposed the first general model of how instincts can evolve.
From mentee to mentor
Over the past year, Barron has been on the other side of the Fulbright Scholarship relationship, mentoring PhD student and Fulbright scholarship holder Brian Entler.
“This is a competitive award and the students who get through are exceptional,” Barron says. “Brian was a highly motivated, dynamic character who took advantage of any opportunity to increase his skills, becoming involved in everything that was happening in the lab.
“As a result of his enthusiasm, and the work he undertook while he was at Macquarie, he contributed to three papers that are yet to be published.
“He has returned to the US to continue his studies, but while he was here his passion and enthusiasm energised and helped lift the research performance of the whole team.”
In 2009, research that involved stimulating the reward system of bees using cocaine attracted the attention of the world’s media.
Barron found surprising similarities between the ways bees and humans react, with the drug altering affected bees’ judgement, stimulating their behaviour and making them overestimate the value of the pollen and nectar they found.
“The cocaine triggered the release of octopamine, which has a similar effect on the brain to dopamine in humans. It caused the bees to dance more vigorously than their finds warranted,” he explains, adding that the research revealed new insights into how brains react to drugs of abuse on a molecular basis.
While much of Barron’s work focuses on creating a functional model of the honeybee brain, he has also written for Nature about the implications of media sensationalisation of research on animal sexual behaviour, particularly when it comes to relationships between animals of the same sex.
Making stressed colonies resilient
Another research avenue Barron is focusing on is the survival of bee populations worldwide, which have been decimated by Colony Collapse Disorder – a phenomenon in which entire bee colonies suddenly disappear without trace.
During research that tracked bees using miniature radio tags, Barron and colleagues found that stress, in the form of parasites, pathogens and pesticides, may be the problem.
“Bees from stressed colonies start foraging too young, with lower foraging success rates and increased risk of death.”
Modelling showed it doesn’t take much to tip the balance from a healthy, productive hive to one in mortal decline: decreased food for the colony and increased forager mortality led to rapid colony collapse.
But the news wasn’t all bad, with the researchers suggesting that by simply supplementary feeding hives during times of stress could help stave off colony collapse.
Barron says that all of his work is connected: “As our knowledge of bee biology has increased, so too has our understanding of how to improve colony function and health”.
It all comes back to the brain
While insect brains and human brains could not look more different, they have structures that do the same thing. But because of the mammalian brain’s complexity, creating a model of its circuitry remains out of reach for researchers.
In 2015, Barron was awarded an ARC Future Fellowship to develop computational and mathematical models of the honeybee brain. He is currently mapping their neural networks and relating function to network activity within the brain.
“The small size of the bee brain constrains the model, meaning that only so many connections between neurons (for processing information about place, smell and colour) are possible. Once we know how they connect we can create a proper circuit model,” he says.
“Even though they’re small, they are still able to solve complex problems. For all bees, foraging on flowers is a hard life. It is energetically and cognitively demanding; bees have to travel large distances to collect pollen and nectar from sometimes hard-to-find flowers, and return it all to the nest without running out of power, getting lost or dying.
“To do this they need finely tuned senses, spatial awareness, learning and memory, and do it with a brain of just a few cubic millimetres.”
Applications for 2018 Fulbright Scholarships are currently open and will close 1 August 2017.
Philanthropic grant success: Pocket Rockets - May 2017
Meet Dr Carol Newall from the Department of Educational Studies, Faculty of Human Sciences (this is not her pictured!). She is a tenacious go-getter and an impressive academic. Dr Newall understands what philanthropic foundations want from their granting: in-depth engagement and clear demonstration on how their funding will change the world for the better. She has been successful in receiving grants from many different avenues.
In 2015, Dr Newall defied the odds and secured funding from the Ian Potter Foundation, one of Australia’s largest private foundations, who supports a variety of areas including arts, community wellbeing, education, and the environment amongst others (last financial year they gave out over $36 million to 267 projects). In 2015/16, only 10% of applications in their Education stream were successful, so Dr Newall is a proven superstar. The funding was for a small pilot program for Pocket Rockets, an innovative STEM workshop for children aged 4-6 years, in collaboration with Dr Kate Highfield at Swinburne University.
With the help of the Office of Advancement, Dr Newall has successfully managed the relationship with the funder, including:
- Managing the funds so well that she was able to undertake 2 extra free workshops for children in remote areas (above and beyond what the Foundation expected)
- Inviting the Foundation along to the workshops and ensuring they have been kept up to date where appropriate
The way that Dr Newall has managed this relationship is best-practice. She has treated them as a partnership, rather than as a transactional relationship. She has ensured that they are ‘inside the tent’ rather than keeping them at arm’s length. This will have done wonders in bolstering Macquarie’s reputation with the Foundation, which can only benefit all of our future applications.
We have also been able to leverage Dr Newall’s program. Through connections in the Office of Advancement, we have met with the Head of the St George Foundation (the bank’s philanthropic arm) and received their first ever donation to an Australian University. This is unheard of!
Because of Dr Newall’s persistence and understanding of the philanthropic landscape, philanthropic funding for her work continues to grow.
Faculty of Arts working with Optus for positive social impact through technology - April 2017
Dr Rowan Tulloch from the Department of Media, Music, Communication and Cultural Studies was funded by the Optus Future Makers for his pitch ‘The Game Change’.
The inaugural Optus Future Makers program fosters digital innovation that will impact how we socially engage. A tense pitching process to a panel of experts by eleven emerging digital influencers took place in front of an audience at the Optus Campus in Sydney.
The innovators had just 180 seconds each (with no notes or power point slides) to secure their share of the $300,000 funding pot and six walked away with enough financial backing to bring their ideas to life.
Rowan won $50,000 to help make his innovative idea a reality. Rowan said “it was so far out of my academic comfort zone, but it must have gone well because they funded me to the full amount”. The Game Change is software that helps university and school teachers gamify their classrooms to better engage and motivate students. The software is also designed to assist students who are marginalised by traditional teaching practices. Through the Future Makers program, Rowan found his collaborator, Epiphany Games, and has been able to expand the scope and enhance the timeline of his original proposal, and to hopefully bring The Game Change app to market.
Paul O’Sullivan, Future Makers Judge and Optus Chairman, said, “This program is about helping Australia’s innovators to make a positive social impact through the use of technology. We know how important technology is in people’s daily lives, and with Future Makers we are specifically targeting projects that will benefit marginalised and vulnerable youth.”
“I think the main thing that gamification can give us as teachers is the possibility to open up a dialogue with students and to help guide them into the practices that we take for granted,” Rowan says.
For further details from Rowan himself, listen to the PioneeringMinds podcast.