“I’m just interested in the way the world works.”

As a child, David Evans dreamt of becoming a park ranger or professional tennis player. But a love of science and mathematics led him down a very different path. Today, David Evans is Professor of Statistical Genetics and Chair Head of Genomic Medicine at UQ’s Diamantina Institute.

Coming from a long line of scientists and clinicians, this self-confessed ‘wet lab hater’ arrived in the field of genomics quite by accident. After visiting his honours supervisor for a cup of tea and a catch up, his eyes were opened to an emerging area of medical science – where statistics and genetics played a revolutionary role in cutting-edge research.

Astounded that such research could be performed outside a lab, and excited by the prospect of combining medicine with maths and statistics, Evans found himself in a field of research perfectly suited to his interests and skills.

“I’ve always been interested in how things work, and the area of statistical genetics provided the perfect forum for that passion,” the professor says. “First you need to understand how the mathematics underlying the method works. Then you apply the maths to the biology, and this in turn provides clues on how the disease arises.”

Using genome-wide association and next generation sequencing approaches, Professor Evans is currently working on a number of major projects to find genes that contribute to the risk of complex diseases such as osteoporosis, eczema and septic shock.

He recently received two project grants from the NHMRC to investigate whether viruses may trigger autoimmune disease, and to identify genes which increase the risk of ankylosing spondylitis – a type of arthritis affecting the spine.

“These are diseases that are common in the population,” explains Professor Evans. “They’re due to hundreds of different genes and environmental factors all acting and interacting together. We look at people’s genes – thousands and thousands of individuals – and identify genes that tell us something about the underlying biology of the condition. This approach has revealed to us things that we never knew about certain diseases. It’s been paradigm changing.

“Occasionally you get lucky and find a gene that subsequently becomes a drug target. This is happening more and more now, which is very exciting. The pharmaceutical industry is actually taking these genes forward and targeting them pharmacologically. We’re starting to see new drugs on the market and also existing drugs being repositioned to treat other diseases. This effectively short-circuits the drug development process so you don’t have to do pre-clinical models or phase one trials. You can go straight through to phase two and three clinical trials, which can save tens of millions of dollars.”

Of course, such impressive developments aren’t without hurdles. Evans concedes that the field of genomics faces a number of challenges– namely the ‘missing heritability problem’ and the rapid development of technology.

“We’re detecting all these genes that are important in diseases, but when you add up their combined effect, they only explain a very small proportion of the overall risk of disease. And so, the question is: where is the missing heritability? Also, technology is advancing at record speed. This creates challenges around how we analyse data, if it can be done in a more cost-efficient manner, and how we get that information into the clinic.”

Although these are big questions, they aren’t slowing Professor Evans down. He remains focused on ensuring his projects run smoothly and has achieved some ground-breaking results. Despite making the 2015 and 2016 Thomson Reuters Highly Cited Researchers list for his research into molecular biology and genetics, Evans remains refreshingly honest when asked what he loves most about his job.

“It’s wonderful to discover things that nobody else has before and it’s exciting to think that some of your discoveries will have an impact and make people’s lives better. But more fundamentally than that, I’m just interested in the way that the world works and I enjoy learning. I’ve also got a fantastic team and would be far less without them.”