At least one in four people living with cerebral palsy may have a genetic cause for their condition, according to research by scientists at Adelaide University in Australia, challenging a long-standing medical assumption that the condition is caused only by brain injury or complications during pregnancy, labour or birth.
The finding has important implications for the diagnosis and care of people with cerebral palsy, a group of lifelong neurodevelopmental conditions affecting movement, posture and motor control. More than 50 million people worldwide are estimated to be living with cerebral palsies, making a better understanding of their underlying causes a significant global health priority.
For decades, cerebral palsy was widely associated with events around birth, including complications that could result in brain injury. However, research led by Professor Jozef Gecz and his team at the Robinson Research Institute, Adelaide University, has demonstrated that genetic factors account for at least a quarter of cases.
The discovery challenges the belief that birth-related brain injury is the sole explanation for cerebral palsy and points to the need for a broader approach to investigating its causes.
Genetic findings challenge decades-old understanding
For many years, cerebral palsy was primarily understood through the circumstances surrounding pregnancy and delivery. This interpretation has had consequences beyond diagnosis, including concerns about obstetric practice and the risk of medical negligence claims when a child is diagnosed with the condition.
According to the Adelaide research team, attributing cerebral palsy exclusively to birth-related complications has contributed to defensive obstetric practices, including unnecessary tests, procedures and high-risk interventions. The researchers also highlight the potential medico-legal implications for healthcare professionals.
More importantly, an incomplete understanding of the condition's causes can mean missed opportunities to identify genetic origins and provide families with more accurate explanations and appropriate clinical pathways.
The researchers' findings do not mean that all cerebral palsy is genetic or that birth-related brain injury is no longer a recognised cause. Rather, they establish that genetic factors play a substantial role in a condition whose origins are more diverse than traditionally understood.
Three decades of research uncover hundreds of disease-related genes
Professor Jozef Gecz and his colleagues have spent approximately 30 years investigating the genetic origins of childhood-onset neurodevelopmental disorders (NDDs).
Their work has identified more than 350 genes associated with conditions including epilepsy, intellectual disabilities, autism and, more recently, cerebral palsy.
The cerebral palsy research represents the outcome of 15 years of work involving Professor Gecz, Dr Clare van Eyk and Emeritus Professor Alastair MacLennan.
Their findings have helped establish that at least one in four individuals with cerebral palsy have genetic origins, challenging the idea that the condition can be explained solely by brain injury.
Professor Gecz said identifying a genetic cause could open up a much wider range of healthcare opportunities for affected individuals.
"Precise genetic diagnosis is the foundation for truly personalised health pathways," he explained, noting that it could support earlier and more accurate diagnosis, improved prognosis, clinical trials, gene-targeted therapies and, ultimately, prevention.
A genetic diagnosis can therefore do more than explain why a condition has developed. It may also help clinicians better understand an individual's prognosis and identify appropriate avenues for treatment and research.
Australian biobank makes genetic information available internationally
An important outcome of the research has been the development of the Australian Cerebral Palsy Biobank, described by the researchers as a world-first resource.
More than 500 genes are implicated in cerebral palsy, and many of these are now accessible to international healthcare, diagnostic and research communities through resources such as PanelApp Australia.
The Adelaide Cerebral Palsy Biobank team initiated and maintains PanelApp Australia's contribution to this work, helping make relevant genetic information available to researchers and healthcare professionals beyond Australia.
The resource is intended to support the identification and interpretation of genetic causes, strengthening the foundation for more precise diagnosis and further research into the condition.
The international significance of the work was also reflected in a change to the clinical description of cerebral palsy. After nearly 20 years, the international community amended its description in the journal Developmental Medicine & Child Neurology, defining cerebral palsy as an "early-onset lifelong neurodevelopmental condition".
This updated description reflects a broader understanding of cerebral palsy as a lifelong neurodevelopmental condition rather than one that should be explained exclusively through the circumstances of birth.
Earlier genetic diagnosis could change treatment pathways
The genetic origins of neurodevelopmental disorders remain complex. Conditions such as epilepsy, autism, intellectual disabilities and cerebral palsy involve extensive genetic diversity, with more than 3,000 genes and millions of DNA variants contributing to the wider landscape of these disorders.
Identifying the precise genetic changes responsible for an individual's condition is therefore a considerable scientific challenge.
However, the potential benefits extend beyond diagnosis. Understanding the biological mechanisms associated with particular genes and DNA variants can help researchers identify targets for more specific treatments.
Advances in DNA-based treatments for spinal muscular atrophy and Rett syndrome offer examples of what precision medicine may achieve in certain genetic conditions.
Researchers at Adelaide University believe similar advances could eventually create new treatment opportunities for people with a range of neurodevelopmental disorders, including cerebral palsy.
Professor Gecz said the research was not limited to understanding why these conditions develop, but also involved building the tools and resources needed to address them.
He expressed optimism that precision therapies, developed around individual genes or even specific DNA variants, could become an option for thousands of neurodevelopmental conditions in the not-too-distant future.
Global access to genetic testing remains a major challenge
Despite advances in genetic discovery and diagnostic resources, ensuring equitable access to genomic testing remains a significant challenge.
The researchers identify the need to make genetic testing accessible to every person with cerebral palsy who seeks answers about the origin of their condition.
Access to testing could help more individuals receive a precise diagnosis, while giving families and healthcare professionals better information to guide clinical decisions and long-term care.
For countries with limited access to advanced genetic diagnostics, this challenge also raises important questions about how emerging precision-medicine opportunities can be made available beyond well-resourced healthcare systems.
The work of Professor Jozef Gecz, Dr Clare van Eyk and Emeritus Professor Alastair MacLennan highlights how identifying the genetic origins of neurodevelopmental conditions can reshape medical understanding and create new possibilities for patient care.
Professor Gecz's contributions to biomedical research have also received international recognition. He was awarded the 2024 Ramaciotti Medal for Biomedical Research Excellence and the 2025 Lorne Genome Julian Wells Medal.
The broader Adelaide research programme builds on earlier advances in medical genetics, including the identification of the FMR1 gene associated with intellectual disability in 1991 and the discovery of the first epilepsy gene in 1995 under Professor Grant Sutherland.
More than 5,000 genes are now linked to human disease, reflecting the rapid expansion of genetic research since those early discoveries.
For the millions of people living with cerebral palsy and their families, the significance of the latest findings lies in the possibility of obtaining answers that were previously overlooked. While genetic testing will not explain every case or guarantee a cure, identifying an underlying genetic cause could mark an important step towards more accurate diagnosis, personalised healthcare and future treatment options.
Stay connected with Medical News Pakistan
CLICK HERE TO FOLLOW Medical News Pakistan on WhatsApp for verified global medical breakthroughs, FDA approvals, healthcare innovations, clinical research updates and important developments shaping medicine and healthcare in Pakistan and around the world.