PURA Foundation Australia
PURA Foundation Australia Research
The PURA Foundation Australia is committed to supporting individuals with PURA syndrome and their families, as well as working with researchers and the medical community to increase understandings and improve treatment options.
We aim to advance knowledge of PURA syndrome and the PURA gene by supporting researchers, universities, research institutes and hospitals, with a commitment to encouraging innovation and excellence in medical and scientific research.
Our areas of focus include:
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Communication clinical research study
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DEE epilepsy and neurology clinical research study
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Translational scientific epilepsy research
To speak with us about research please contact Mel Anderson
PURA Foundation Australia Scientific and Clinical Advisory Team
The PURA Foundation Australia Scientific and Clinical Advisory Team assist our Foundation in undertaking research and educating the community about PURA syndrome.
Prof Christopher Reid
Lead Scientist
Translational Neuroscientist
Research lead - Epilepsy Mission, Neurophysiology of Excitable Networks Lab, The Florey
Jenna White
Senior Clinical Research Scientist
Epilepsy Research Centre
Austin Health
University of Melbourne
Prof Angela Morgan
Speech Pathology
Director Genetics of Speech MCRI, Director of Research, Health Sciences
Univeristy of Melbourne
Prof Ingrid Scheffer
Prof Dierk Niessing
Structural and Stem Cell Biologist
Group Leader
Ulm University and
Helmholtz Munich Germany
PURA National Data Partnership
PURA Foundation Australia is working with Phenomics Australia to advance research into epilepsy in PURA syndrome. The partnership brings together scientific expertise, national research infrastructure and the lived experience of the PURA community.
At the centre of the research is a knock-in PURA mouse model developed by Professor Christopher Reid and his team. The model carries the same PURA variant found in people living with PURA syndrome and develops many of the same features, including epilepsy. This provides researchers with an important model for investigating how epilepsy develops and exploring approaches that could lead to more targeted treatments.
Through Phenomics Australia, researchers have coordinated access to specialist laboratories, technologies and expertise across the national research infrastructure network. The research includes single cell RNA sequencing, spatial transcriptomics and histopathology, allowing researchers to investigate what happens inside brain cells when a PURA variant is present and identify biological pathways involved in epilepsy.
The research will also contribute to a national data portal for PURA syndrome, helping build a broader understanding of how PURA syndrome affects the body. Together, this work is building a deeper understanding of PURA syndrome epilepsy and identifying new pathways that could lead to more targeted, precision treatments in the future.
For more details please visit Phenomics Australia - Advancing Precision Treatments for PURA Syndrome
Understanding Vision in PURA Syndrome
While PURA syndrome is best known for its impact on brain development, epilepsy and communication, many individuals also experience vision related challenges.
The retina, located at the back of the eye, is an extension of the central nervous system. Because the PURA gene is active in nerve cells throughout the body, including the retina, researchers are exploring whether changes in retinal function may contribute to some of the visual issues seen in PURA syndrome.
By studying retinal and visual pathway function, researchers hope to better understand whether vision differences in PURA syndrome arise from changes within the retina itself and how this affects signals getting to the brain. This research may also identify biomarkers that improve our understanding of the condition and support the development of future therapies.
This is the first study to systematically investigate retinal and visual pathway function in people living with PURA syndrome. The findings will contribute to a growing body of research aimed at understanding the full clinical features of PURA syndrome and, ultimately, improving care and outcomes for individuals and families.
Visit PURA Vision to read more
Improving Communication and Language for PURA.
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 completing research focussed on examining communication of PURA syndrome in a systematic manner. ‘Investigating speech and language in individuals with PURA-variants’ (Project) led by Dr Miya St John and Professor Angela Morgan.
Research aims are to characterise the speech and language of individuals with PURA, to provide clearer diagnosis, prognosis and treatment planning, new education materials, and to inform future clinical trials. This study has closed. At end of recruitment:
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93 individuals included
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Ages: 6 months – 56 years
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Location: Australia, USA, NZ, Canada, Netherlands, Germany, Spain, France, Belgium, Mexico, Bulgaria, Bahrain, Gibraltar, India, Colombia, Ireland, Turkey, Hong Kong, Brazil, Israel, Switzerland, Scotland, England, Poland
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Researchers are currently writing manuscripts to be published later this year.
Understanding the Underlying Mechanisms of PURA-Related Epilepsy
The PURA Foundation Australia is proud to have funded the development of a mouse model of PURA syndrome, created in partnership with The Florey Institute of Neuroscience and Mental Health.
This groundbreaking model is based on a human genetic variant and mirrors many of the clinical features of PURA syndrome, including the severe seizures that affect so many individuals in our community. It represents a major step forward in understanding the biological mechanisms that drive the condition.
Through this research, The Florey team aims to uncover the key molecular and cellular pathways that lead to seizures, paving the way for new precision medicine approaches. Importantly, this PURA mouse model also provides a vital preclinical platform to evaluate both current and emerging epilepsy treatments, bringing us closer to more targeted and effective therapies for people living with PURA syndrome.
Research Aims:
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Characterise the full behaviour of the novel mouse model of PURA syndrome.
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Determine the cellular basis of PURA-related epilepsy using electrophysiological techniques.
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Test novel therapeutic strategies on our mouse model.
To learn more about this research project visit the Florey Website
PURA-related neurodevelopmental disorders GeneReviews
🌟 GeneReviews Update for PURA Syndrome 🌟
The 2026 update to the GeneReviews for PURA-related neurodevelopmental disorders has now been published, led by Dr David Hunt and the Scientific and Clinical Advisory members from the PURA Foundation Australia and PURA Syndrome Foundation.
To read visit https://www.ncbi.nlm.nih.gov/books/NBK426063/
🧬 GeneReviews are trusted, researcher written summaries that bring together what has been reported about a condition in the medical literature. They are used by doctors and researchers to guide diagnosis, care, and genetic counselling, and help families access clear, reliable information in one place.
👏 We would like to thank Prof Michael Hildebrand, Prof Rick Leventer, Prof Angela Morgan, Dr Miya St John and Mel Anderson from PURA Foundation Australia for their involvement in this important update.
This update reflects the growing understanding of PURA syndrome and ensures families, clinicians, and researchers globally are working from the same, up to date information. It is an important step forward for care and future research 💜💙
Now Recruiting - Developmental and Epileptic Encephalopathy Research (DEER) study for PURA
Through the Developmental and Epileptic Encephalopathy Research (DEER) Study, we’re working to better understand the clinical features of PURA syndrome, with the goal of identifying treatment needs and developing important outcome markers for future clinical trials.
Developmental and Epileptic Encephalopathies (DEEs) are a group of rare and severe epilepsies. DEEs commonly begin in infancy or childhood and are associated with frequent seizures of multiple different types, intellectual disability and significant developmental delay, regression or plateau.
This international research study aims to define the full spectrum of neurological and developmental features seen in PURA syndrome by carefully characterising both epileptic and non-epileptic events. Importantly, the study also looks beyond seizures, exploring developmental delays, cognitive and motor challenges, medical complications, and medications that have been trialled, to build a more comprehensive understanding of the lived experience of individuals with PURA.
Every lived experience brings us one step closer to improving care and unlocking treatment possibilities for the PURA community.
To be involved in this research project: visit the DEER Study
Research Partners
PURA Medical Papers - Open access papers for download
GeneReviews - PURA Neuro-Developmental Disorders (March 2026)
Hunt et al 2014 - Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability
Reijnders et al 2018 - PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature
Anaesthesia recommendations for PURA Syndrome - October 2019 edition
Johannesen at al 2020 - PURA Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum
Hildebrand et al 2024 - Inherited pura pathogenic variant associated with a mild neurodevelopmental disorder