This article was originally published in issue 4 of the MMIM newsletter.

Associate Professor John Wilson began his career with a science degree, followed by a medical degree and a PhD. After working in the United Kingdom for two years, he returned to Australia and is now the head of the Cystic Fibrosis Service, Department of Allergy, Immunology and Respiratory Medicine at the Alfred Hospital, Melbourne.

Cystic fibrosis (CF) is a life-limiting condition characterised by respiratory failure and malnutrition. Although it is caused by an abnormality in a single gene, the expression of the abnormality is highly variable. CF patients’ symptoms range from negligible to severe lung impairment. It follows that other factors must affect how the disease progresses. Wilson is particularly interested in how factors such as gastroesophageal reflux, nutrition, and bone density interact with the cystic fibrosis gene. For example, genes encoding proteins involved in the manufacture of advanced glycation end-products (AGE) are important in diabetic nephropathy, but they also appear to play a role in causing early kidney failure in CF.

Wilson says that MMIM is “very powerful because it helps us direct our research”, which saves time and money by “avoiding fishing expeditions” and ultimately helps his patients. Because Wilson and his colleagues are trying to balance many factors in order to optimise treatment, computer-based analysis is essential. “Constructing models helps us weight the importance of different factors,” Wilson explains.

For example, Wilson’s research team found surprising interactions between the most common mutation of the CF gene, ΔF508 (either one or two copies), and bone mineral density (BMD). Carrying this mutation and being male are “powerful risk factors” for osteoporosis, independent of pancreatic disease and vitamin D malabsorption. Because osteoporosis is considered to be predominantly a disease of women, this means that we need to be “extra-vigilant” about BMD screening for men with CF. It also has implications for children with CF, who should have BMD augmented to prevent osteoporosis before it occurs.

This type of work, Wilson says, “will improve the health of Australians” – both with CF and with other conditions. In his role at the Alfred he still sees patients regularly, and is committed to practical research that will “get to the clinical interface” and make a real difference for patients. His approach is to address current clinical guidelines with up-to-date research: it is always important to “evaluate evidence and challenge icons” and determine whether there is a better way to approach treatment.

His overall plan for management of CF is to create an electronic health record, which can be “interrogated” to retrieve information, and “injected” with management plans, creating individual goals for therapy. Treatment can be accelerated if goals are not being met, or wound back if they are ahead of schedule.

Some of the most dramatic advances in CF survival rates in the last two decades have been relatively simple changes, such as an increase to twice daily physiotherapy, and a shift from postural drainage (which causes reflux) to other techniques to clear airway secretions. By studying the current techniques and analysing them statistically (with the help of the MMIM database), Wilson and his research team can make further advances that make a real and timely difference to patients.