In May, 65 Roses Month was launched to a packed audience at the Telethon Kids Institute (TKI) at the annual Evening with CF Scientists.
Scientists paint a rosier future
This year’s event, hosted by Cystic Fibrosis WA (CFWA) and TKI, saw seven speakers cover a range of issues - from gene therapy to the importance of involving consumers in research. Much of the data presented has not yet been published and is at the cutting edge of cystic fibrosis (CF) research.
Consistent across all the presentations was the strong theme of hope for the future.
One of the researchers, Kelly Martinovich, explained how she was looking at using small molecules to patch up flaws in CF genes. Kelly completed her undergraduate biomedical degree at Murdoch University in 2008 and honours in medical science at The University of WA (UWA) in 2009. She has worked as a research assistant in the epithelial research group at TKI for three years prior to her enrolment in further studies, and began her PhD in March 2016.
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Kelly explained that “genes are like the recipe book for the production of proteins in our bodies. These proteins determine how our cells work by virtue of their shape. When the gene is damaged, or mutated as we say, the recipe gets mixed up and the protein that’s made is not quite right. If it’s not right, then either it doesn’t work quite the way it should, or not at all.”
Kelly explained that her research was looking at using small molecules (called antisense oligonucleotides) to effectively put a Band-Aid over the damaged part of the CF gene to get a partially functioning Cystic Fibrosis Transmembrane Regulator (CFTR) protein.
“By using a Band-Aid to mask the damaged part of the gene, we should still be able to make our cake. It may not be perfect, but the aim is to make it edible. We think that we might only need a relatively small percentage improvement to provide an effective treatment for people living with CF,” she said.
Kelly’s work has built on work undertaken by Professor Steve Wilton in the area of Duchene Muscular Dystrophy (DMD), which, like CF, is also a recessive genetic disease. It is being undertaken in collaboration with the Centre For Comparative Genomics based at Murdoch University.
Professor Wilton took 20 years to develop the first compound to treat the underlying cause of DMD, with miraculous results. Our hope is that by building on this work, we should be able to accelerate the process to get something for CF a lot sooner.
Dr Andre Schultz is a CF scientist and CF Centre director at Princess Margaret Hospital (PMH), soon to be relocated to Perth Children’s Hospital (PCH). He talked about his work in the area of unresolved grief around diagnosis, which may influence a parent’s ability to deal with their child’s diagnosis of CF. This study was borne out of feedback from the Consumer Reference Group at PMH, which asked for more research around psychological aspects at diagnosis.
A highly specialised screening process is used to determine if parent have unresolved grief in relation to their child’s diagnosis.
Parents who have unresolved grief are then offered a combination of five hours, spread over a few weeks, of insight oriented psychotherapy, followed by five hours of CF-related upskilling/education with expert CF clinicians, or vice versa. After each intervention (psychotherapy or education), unresolved grief is again screened for.
Preliminary results suggest that unresolved grief is widely prevalent among parents of children with CF and can be present for many years. Fortunately, it appears that such grief can be resolved with appropriate intervention.
Daan Caudri was trained as a paediatrician and epidemiologist in the Netherlands and finished his PhD in 2010. In 2015, he came to Perth for a Fellowship in Respiratory Medicine and Sleep Medicine, supported by the Rothwell Foundation Fellowship. During that fellowship, he has contributed to several research projects using the AREST CF data base.
Daan presented insights from data collected at the Perth and Melbourne paediatric CF centres, linking practices with clinical outcomes and identifying implications for intervention. Doctors are always trying to decide whether your child needs more or less medication, and they make use of all the information they can get; the symptoms you tell them about, the blood and bronchoscopy test results, problems in previous years. Despite all that information, it remains quite difficult to predict the future. Will the cough resolve with oral antibiotics and physio, or is an admission with intravenous antibiotics needed?
The AREST CF data base contains a wealth of knowledge on which factors are best for predicting the risk of lung problems in individual children.
But it is not easy to analyse such a large dataset. Daan used complex statistical and mathematical models to develop personalised risk scores in children with CF. A score was developed to predict if a child would need an admission in the following six months, and another score was developed to estimate the long-term risk of developing lung damage.
“Obviously we do not just want to predict future problems. If we know a child is at increased risk for lung damage, we want to use that information and do something about it. For example, a doctor could then ask for more investigations, arrange more frequent follow-up, or start some stronger medication. Using a personalised approach means we can do this only for the children who really need it. If your child was doing fine on his/her current treatment, why would you want to change anything?”
In an innovative development, the evening also encompassed an inspirational presentation from Ben Horgan from the Involve Program. Ben talked about the importance of involving consumers in research.
Ben was diagnosed with Juvenile Rheumatoid Arthritis in 1973, aged two. The disease quickly consumed every joint in his body, changing his and his family's lives forever.
Not expected to live past the age of 10, Ben’s story is one of determination and courage.
Ben is currently working for the Consumer and Community Health Research Network as a consumer advocate. He's a seasoned consumer representative, working on several state and commonwealth health initiatives. His current role enables him to utilise all his experience and evidence-based best practice models to improve collaboration between researchers and the community.
“Consumer and community involvement in research is more than just a good idea, it is actually the right thing to do. Lived experience is invaluable to understanding what we research, how we research and what we do when we finish.
"I was lucky to have a determined mother who decided soon after my diagnosis to find out as much as she could to help me and others in similar situations.
"She conducted two large research projects, which ultimately enabled her to write a book entitled Arthritis in Children; A Practical Guide. It was the first book of its kind in the world in 1983 and gave me an early understanding of what research is all about. Mum never went to university or got a PhD, she was just a mum who had a real-life experience and wanted to make a difference.
"My first personal experience involving research was with an international clinical trial OMERACT (Outcome Measures in Rheumatoid Arthritis Clinical Trials) and a project trying to define flare. Researchers and consumers were separated and given de-identified core set results, including a Quality of Life score, Patient Global, Physician Global, number of inflamed joints and blood results. From these results, we were asked to make two piles; one in flare and one not, in our opinion. Both groups were then brought back together and the results were compared.
"Interestingly, the results were almost opposite. The consumers were prioritising the Quality of Life score and the Patient Global, and the researchers were prioritising the number of inflamed joints and blood work. A discussion followed, coming to the conclusion that neither group were wrong, simply looking at the problem from a different point of view.
"From the consumers point of view, bad blood results or a high number of inflamed joints does not mean a flare. A good Quality of Life score seems clear that the consumer is not experiencing flare despite adverse test results. Having consumers involved in research brings a ‘lived experience’ to a project that can add value and bring a perspective that is empowering for all involved.
"For more information about consumer and community involvement visit our website . Whether you’re a researcher or a person with lived experience, we can support you in research."
Other presentations were made by Dr Anna Tai, Tim Rosenow and Professor Stephen Stick.
Unfortunately, space does not allow for these to be reproduced here, but a video of the evening is being put together by TKI and will soon be available. Please keep an eye out on our Facebook page and e-news for the link.
Much of the work done by the AREST CF team is being funded through the Little Lungs Big Futures research campaign, which has already raised over $2.7m here in WA thanks to major gifts from Stan Perron, John Rothwell, the Allingame family, Conquer Cystic Fibrosis and the CFWA Golf Committee. For more information on our research please CEO Nigel Barker on 08 6457 7333 or.
If you would like to find out more or help fund research being undertaken by Cystic Fibrosis WA, please call CEO Nigel Barker on 08 6457 7333, or message on. All donations over $2 are tax deductible and can be made on line at