Discovering genetic causes of disease

Adelaide University researcher in a lab growing plants for space

Researchers are building on years of discoveries with another breakthrough: that the origins of cerebral palsies, long thought to result from labour or delivery complications, can be tracked to changes in our DNA.

With more than 50 million people worldwide living with cerebral palsies, this is a globally significant breakthrough. It is one of many seminal findings by the Adelaide University research team, who continue to transform medical genetics and revolutionise how the world understands and treats neurodevelopmental conditions.

Cerebral palsies were – and in some jurisdictions still are – believed to result only from complications at or around birth. The conditions, which affect motor and posture control, have historically been attributed to brain injuries. But this understanding is limited, with serious potential consequences. When causes are narrowly attributed to birth events, early signs in infancy can be overlooked, and children may miss out on early diagnosis and timely treatment. For families, it can lead to uncertainty, reduced access to support and less confidence in planning for their child’s future.

For the past 30 years, Professor Jozef Gecz and his team at the University’s Robinson Research Institute have been searching in our genes for answers about childhood onset neurodevelopmental disorders. They have discovered more than 350 genes, identifying the genetic origins of neurodevelopmental conditions like epilepsies, intellectual disabilities, autisms, and – most recently, through 15 years of work with Dr Clare van Eyk and Emeritus Professor Alastair MacLennan – cerebral palsies.

Their work has shown that at least one in four individuals with cerebral palsies has genetic origins – debunking the myth that brain injury is the sole cause.

“When the origin is genetic, it opens the door to an enormous range of health opportunities,” says Professor Gecz.

“Precise genetic diagnosis is the foundation for truly personalised health pathways. It can lead to early and accurate diagnosis, better prognosis, clinical trials, gene targeted therapies and, ultimately, prevention.”

Professor Jozef Gecz
Robinson Research Institute

“Our discoveries have also helped us recognise that we are really dealing with a group of highly heterogeneous conditions that affect movement and posture. For decades, we used the term ‘cerebral palsy’, but it is better described as “cerebral palsies”.

For his work on this topic, Professor Gecz received the 2024 Ramaciotti Medal for Biomedical Research Excellence and the 2025 Lorne Genome Julian Wells Medal. His colleagues, Dr Clare van Eyk and Emeritus Professor Alastair MacLennan, have also been critical in advancing the project.

Together they have developed a world first and unique resource, the Australian Cerebral Palsy Biobank. More than 500 genes are implicated in the condition – and many of these are now freely accessible to international health, diagnostic and research communities.

Recently, the international community acknowledged these research efforts by – after nearly 20 years – amending the clinical description of ‘cerebral palsies’ to describe it as: ‘an early-onset lifelong neurodevelopmental condition’ in the journal, ‘Developmental Medicine & Child Neurology’.

On the horizon

Understanding the precise genetic origins of neurodevelopmental conditions – such as epilepsies, autisms, intellectual disabilities, or cerebral palsies – is complex. Their vast genetic diversity, spanning more than 3,000 genes and millions of DNA variants, makes the task formidable.

But the effort pays off. The Adelaide University teams’ work in pinpointing the causes behind the conditions offers powerful insight into the biological mechanisms researchers can target for better treatment. Early successes of improved therapies, including DNA-based treatments for spinal muscular atrophy and Rett syndrome, show what’s possible.

The next challenge is equity: ensuring that every person with cerebral palsies who seeks answers has access to genomic testing. With a clearer understanding of their biology, individuals across the world will be better equipped to improve their health and quality of life.

“While we are learning as to why, we are also building tools and resources to see how to address these,” Professor Gecz says.

“For thousands of these neurodevelopmental disorders, stratified by individual genes or even specific DNA variants, precision therapy will be an option in a not-too-distant future.”