For families living with PURA Syndrome, research offers something powerful: the possibility of more targeted treatments and, ultimately, a better quality of life.
PURA Syndrome is a rare genetic condition that can affect movement, development and neurological function, with epilepsy among the most challenging symptoms for many families.
Sarah Anderson is one of a small number of Australians living with this rare genetic condition. Her family, together with PURA Foundation Australia, is helping researchers better understand the condition and accelerate the search for effective therapies.
For Sarah Anderson’s family, managing epilepsy is one of the hardest parts of living with PURA Syndrome.
“For us, the hardest component of PURA Syndrome is managing the epilepsy. So, that is the focus of our foundation and our treatments.” Sarah’s mum and PURA Foundation Australia Chair and Director, Mel Anderson, said.
Through PURA Foundation Australia, families are helping researchers understand the condition and identify new approaches to treatment. Their partnership with researchers at The Florey and Phenomics Australia is helping shift the focus from managing symptoms to understanding and targeting the underlying biology of PURA Syndrome.
“We can actually target the underlying mechanisms, so, what is happening when PURA Syndrome occurs, so that we can target precision therapies for our kids.” Mel Anderson, said.
For four-year-old Christian and his family, the need for progress is equally urgent.
“It is so important that we keep research going and the funding, because we need answers and we need treatment to help these PURA kids to have a better life.” Christian’s mum and PURA Foundation Australia Board Officer, Amy Zagato said.
Building the foundations for discovery
Finding better treatments for PURA-related seizures is a key focus for the research team led by Professor Chris Reid. But translating promising scientific ideas into potential therapies requires more than a single laboratory. It requires access to specialised technologies, biological models, data, expertise and highly skilled researchers.
This is where Phenomics Australia plays a critical role.
PURA Syndrome is a complex condition, and understanding it requires researchers to approach the problem from multiple directions.
“It’s going to take a village to really understand it and make a difference. No one lab can have that capacity, so we need to engage a broad range of techniques and the infrastructure that’s been provided by Phenomics Australia is central to that.” Prof. Reid said.
Phenomics Australia provides researchers with access to national research infrastructure and expertise, supporting the design and delivery of experiments that can help move discoveries towards therapeutic development and, ultimately, first-in-human trials.
This includes providing sophisticated experimental systems and models, helping researchers design robust experiments, supporting data generation and management, and enabling discoveries to progress along the pathway towards potential treatments.
Models that help unlock new treatments
One of the important capabilities supporting PURA research is the development of preclinical animal models that have been genetically engineered to reproduce key features of PURA Syndrome.
These models allow researchers to investigate how the condition affects the brain and nervous system and, importantly, provide a system in which potential therapies can be tested.
The PURA models reproduce several features observed in people living with the condition, including seizures, difficulties with learning and impaired movement.
“What’s remarkable about it is that the mouse then recapitulates many of the symptoms that Sarah has. So, for example, the mouse doesn’t learn as well. The mouse has seizures. The mouse doesn’t walk as well.” Prof. Reid said.
For researchers, these models offer an important opportunity to understand the biology of PURA Syndrome and investigate whether emerging treatments can address its underlying mechanisms.
For families, the potential is profound.
“It has the potential to be a game changer.”
Connecting Australia’s research capabilities
Phenomics Australia’s role extends beyond providing individual technologies or facilities. Its broader purpose is to connect the capabilities researchers need, wherever they are working across Australia.
CEO Michael Dobbie describes this as bringing together the elements required to translate research into better health outcomes, connecting discovery research, patient evidence, biological models, data and expertise.
“Phenomics Australia brings together all of the elements that are needed for researchers, regardless of where the researchers are working. They have access to facilities across the whole of the country.” Prof. Dobbie said.
The infrastructure supports research across a broad range of health challenges, including melanoma, motor neurone disease, women’s health, mental health and precision cancer treatments such as those targeting brain cancer.
By coordinating national capabilities and enabling strategic investment in world-class research infrastructure, Phenomics Australia helps empower researchers working at the forefront of therapeutic discovery.
This capability is made possible through the commitment of the Australian Government through the National Collaborative Research Infrastructure Strategy (NCRIS) and other co-investors, helping ensure Australian researchers can access the infrastructure they need to address some of the country’s most pressing health challenges.
A future with fewer seizures
For families affected by PURA Syndrome, the goal is clear: better treatments and a better quality of life.
For Sarah, Christian and other children living with PURA Syndrome, finding a treatment that can prevent or reduce seizures could transform everyday life.
“If we can find an answer, or a medication that stops seizures, it’s a game changer.” Amy Zagato said.
Developing treatments specifically for PURA Syndrome could do more than address an individual symptom. By targeting the underlying mechanisms of the condition, researchers hope to open the door to precision therapies designed around the biology of PURA Syndrome.
“Being able to develop a treatment specifically for PURA, to remove these epileptic seizures, will give our kids and families their life back.” Mel Anderson said.
Through collaboration between families, clinicians, researchers and national research infrastructure providers such as Phenomics Australia, that future is being brought closer.
We thank the Phenomics Australia nodes involved in this project. This work would not be possible without the invaluable contributions and expertise of:
- The Monash Genome Modification Platform at Monash University.
- The Victorian Centre for Functional Genomics at Peter MacCallum Cancer Centre.
- The Phenomics Australia Histopathology and Digital Slide Service at the University of Melbourne.
