Precision medicine

In the world of childhood cancer research, constant innovation is very much the name of the game. Mark Cowley, Deputy Director at Children's Cancer Institute, embodies this spirit as he leads groundbreaking initiatives in computational biology. With the support of charitable partnerships like the Audi Foundation, the Institute's vision for precision medicine (aka personalised medicine) is continually being refined, transforming the lives of more and more children diagnosed with cancer. 

When every child is unique, every set of circumstances surrounding their diagnosis is too. Fortunately, computational biology, a discipline at the intersection of biology and computer science, is revolutionising the understanding and treatment of cancer. Mark Cowley and his team at Children's Cancer Institute leverage computational tools to analyse vast amounts of genomic data which then helps identify any genetic mutations that may be driving the growth of a child’s cancer. This in turn, can lead to personalised treatment plans tailored to each patient's unique genetic profile. 

A cornerstone of the Institute's efforts is the Zero Childhood Cancer Program (ZERO). ZERO aims to provide every child diagnosed with cancer in Australia access to precision medicine and since its inception, the program has enrolled over 1000 patients, with numbers rapidly increasing. Recent expansion of the program and its capabilities is allowing for the analysis of genomic data from a larger number of patients more efficiently.

As Cowley explains, "For children enrolled [in the ZERO program], we try to work out which genetic changes are driving their disease so we can make personalised treatment recommendations." The aim of this targeted approach is to ensure that treatment is as effective as possible, reducing the likelihood of relapse and improving overall survival rates.

ZERO Dash, a critical tool also developed by Cowley's team, exemplifies the innovation of the program. This digital platform streamlines the analysis of genomic data, enabling researchers to generate clinically relevant insights quickly. Cowley notes, "ZERO Dash is a big part of that – we now have a module for each type of cancer to streamline the analysis process for each patient.”

Cowley's journey to Children's Cancer Institute is rooted in his passion for making a difference. Initially collaborating on the ZERO project while working at the Garvan Institute, he recognised the potential to revolutionise cancer treatment for children through genomic analysis. Five years ago, he seized the opportunity to join the Institute and establish his own research group and today, his team is at the forefront of computational biology, driving significant advancements in the field.

Cowley's excitement is palpable when he discusses the breakthroughs his team has achieved. One notable success is the ability to use genomic data to detect genetic changes in tumours that were previously undetectable. These discoveries not only help explain the underlying mechanisms of a child's cancer but also guide the development of targeted treatments. "I love when we find a genetic change in a tumour that is unusual, that wasn’t expected, that suddenly explains their whole disease… and that helps us know how to treat them better," Cowley says.

The future of computational biology in cancer treatment is promising. One emerging application is liquid biopsy, which uses blood samples to monitor the genetic changes in a patient's tumour. This minimally invasive technique allows for real-time tracking of how well a treatment is working and can detect early signs of relapse, enabling timely intervention.

Cowley envisions a future where every child with cancer receives an accurate diagnosis and a personalised treatment plan from the outset. The potential to reduce the need for multiple rounds of chemotherapy and improve long-term outcomes is a powerful motivator for his team. 

"The benefits to the child are that they get an accurate diagnosis, the genetic data could identify a new treatment option, and the ability to monitor how their disease is responding to that treatment plan in a minimally invasive way is a game changer," he explains.

Newly appointed to the role of Deputy Director, Cowley has a clear vision for the future of Children's Cancer Institute. In 18 months, the Institute will move into the first facility of its kind in the southern hemisphere, the Minderoo Children’s Comprehensive Cancer Centre. This state-of-the-art facility will bring scientists, clinicians and patients together under one roof, fostering a collaborative environment that will further enhance research and treatment.

Looking further ahead, Cowley envisions the Institute growing in size and attracting top talent from around the world. The goal is to create a hub of innovation where clinicians and scientists work side by side, translating research discoveries and clinical observations into new treatment strategies.

The Audi Foundation's partnership with Children's Cancer Institute plays an important part in helping to drive these innovations. Audi's commitment to supporting cutting-edge research and technology have helped enable the development of the platforms that make genomic analysis possible, providing researchers with the tools they need to turn data into life-saving insights.

A testament to the power of collaboration in motivating progress, by supporting the Institute's pioneering work in computational biology, Audi is helping to unlock new possibilities in the fight against childhood cancer. Together, they are not just imagining a future where every child with cancer can receive personalised, effective treatment from day one—they are making it a reality.