PURA Foundation Australia
Welcome
The PURA Foundation Australia is a non-profit charitable organisation, that has been established to provide national and local support systems for individuals diagnosed with PURA syndrome and their families, across Australia and New Zealand.
We aim to facilitate education and awareness, assist in the advancement of research and treatments, and provide support for families of, and individuals with, PURA syndrome.
Now Recruiting - Developmental and Epileptic Encephalopathy Research (DEER) study for PURA
PURA clinical epilepsy research published in 2021 highlighted the need for additional studies focussed on PURA epilepsy. Through the Australian Developmental and Epileptic Encephalopathy (DEE) Study, we aim to understand the common PURA syndrome clinical characteristics to determine possible treatment requirements and define outcome markers necessary for future clinical trials.
Key research aims are to define the spectrum of PURA epilepsy, describing and comparing seizures and non-epileptic events seen in PURA syndrome. This includes looking at the types, frequency, patterns and severity of seizures, as well as other related issues like medications trialled, developmental delays, cognitive problems, and motor difficulties. PURA individuals with and without epilepsy can be involved.
Individuals with a confirmed diagnosis of PURA syndrome or 5q31.3 deletion syndrome (including PURA) are encouraged to join this study.
2025 BRISBANE MARATHON FESTIVAL June 1st 2025
What an amazing weekend it was, bringing Team PURA together for the Brisbane Marathon Festival. From the very first step to crossing the finish line, this event was so much more than a race. It was a true celebration of community, dedication, and shared purpose.
Every kilometre we ran, walked, and wheeled showcased our collective commitment to supporting one another and advancing vital research. Whether it’s testing endurance on the track or exploring new frontiers in research, we’re reminded that meaningful progress happens through collaboration.
Together, we’re not just chasing finish lines, we’re driving discoveries that make a difference. 💜
Now Recruiting - Speech and language research for PURA syndrome
Significant speech and language challenges have been reported in individuals with PURA syndrome. These challenges may impact their ability to ask for basic needs, to explain pain and medical support required, and impact their learning at school. The PURA Foundation Australia, in collaboration with Translation Centre for Speech Disorders at the Murdoch Children's Research Institute - MCRI is beginning research focussed on examining speech and language of PURA syndrome in a systematic manner.
Key research aims are to characterise the speech and language abilities of individuals with PURA syndrome, to provide clearer diagnosis, prognosis and treatment planning, new education materials, and to inform speech and language outcome markers necessary for future clinical trials.
To be involved in this international research project, please email researchers at geneticsofspeech@mcri.edu.au
or complete the experession of interest form for researchers
For more details download the study flyer or visit the Genetics of Speech MCRI Website
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