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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Applied translational research models
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.
Jenna White
PhD Student
Neurophysiology of Excitable Networks Group,The Florey
University of Melbourne
Prof Christopher Reid
Translational Neuroscientist
Research lead - Epilepsy Mission, Head of Neurophysiology of Excitable Networks Lab,
The Florey
Senior Clinical Research Scientist
Epilepsy Research Centre
Austin Health
University of Melbourne
Prof Ingrid Scheffer
Prof Angela Morgan
Speech Pathology
Director Genetics of Speech MCRI, Director of Research, Health Sciences
Univeristy of Melbourne
Prof Dierk Niessing
Structural & Stem Cell Biologist
Group Leader
Ulm University and
Helmholtz Munich Germany
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 key outcome markers for future clinical trials.
This international research aims to define the full spectrum of epilepsy seen in PURA syndrome by carefully characterising both epileptic and non-epileptic events. Importantly, the study also considers the broader picture, including developmental delays, cognitive and motor challenges, and medications that have been trialled, to build a comprehensive understanding of the lived experience of individuals with PURA.
Participation is open to individuals with a confirmed diagnosis of PURA syndrome or 5q31.3 deletion syndrome (including PURA), whether or not they experience seizures. By involving both individuals with and without epilepsy, this study will help us identify patterns and differences that may guide future interventions.
To join this research study visit the DEER Page here.
Every participant brings us one step closer to improving care
and unlocking treatment possibilities for the PURA community.
This project is being supported by the PURA Foundation Australia and being run by Professor Ingrid Scheffer, Professor Samuel Berkovic and Professor Piero Perucca at the Epilepsy Research Centre, The University of Melbourne in Melbourne, Australia, Dr Katherine Howell at The Royal Children’s Hospital in Melbourne, Australia, and Dr Elizabeth Palmer, at Sydney Children’s Hospital – Randwick in Sydney, Australia. This project is being funded by granting organisations such as the National Health and Medical Research Council (NHMRC) of Australia and the Medical Research Future Fund.
Translational Epilepsy Research Update - October 2025
Understanding the Underlying Mechanisms of PURA-Related Epilepsy
The PURA Foundation Australia is proud to have funded the development of the first 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
Update October 2025 - 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 closed recruitment at the end of July 2025. At end of recruitment:
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103 families in contact with the research team
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Ages: 6 months – 32 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, UK, Poland
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Languages: English, Dutch, German, Spanish, French, Turkish/English, Polish, Cantonese/English, Portuguese.
Researchers are currently analysing clinical data provided in preparation for publication.
PURA Foundation Australia Research
The PURA Foundation Australia, with the input of scientific and community stakeholders, is developing a strategic research plan to provide additional research for PURA syndrome. It is hoped this will help to accelerate understandings, create education materials and aid development of new treatment options for PURA.
Program 1: Developmental & Epileptic Encephalopathy Study (DEER)
PURA clinical epilepsy research published in 2021 highlighted the need for additional studies focussed on PURA epilepsy. To define the spectrum of PURA epilepsy, we will describe the different types and patterns of seizures seen in PURA syndrome and compare them. This includes looking at the types, frequency, and severity of seizures, as well as other related issues like developmental delays, cognitive problems, and motor difficulties.
Through the DEER Study, we aim to understand the common PURA syndrome clinical characteristics to determine possible treatment requirements, develop education material for medical practitioners, allied health, and community members, and define outcome markers necessary for future clinical trials. This international study is currently recruiting here.
Program 3: PURA Communication and Speech Study
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 Speech and Language Group at the Murdoch Children’s Research Institute (MCRI) has begun research focussed on examining speech and language of PURA syndrome in a systematic manner.
Key research aims are to characterize the speech and language abilities of individuals with PURA syndrome, to provide clearer diagnosis, prognosis and treatment planning, and to inform speech and language outcome markers necessary for future clinical trials. Fundraising for this research project has been completed through the 2023 and 2024 Melbourne Marathon Festival.
Program 2: PURA Translational Epilepsy Model Studies
The PURA Foundation Australia, in collaboration with The Florey Institute and the University of Melbourne has begun this research to search for more effective and possibly targeted epilepsy treatments for PURA patients.
Key research aims are the investigation of behavioural and seizure characteristics for PURA through biological models and patient cell lines, along with investigation of disease mechanisms to target with new or repurposed anti-seizure medications. We anticipate this project will provide new knowledge for PURA syndrome therapeutic clinical trials and needed change for PURA patients and their families.
The first stage of this project is being funded by the PURA Foundation Australia. Funds raised during the Brisbane Marathon Festival 2024 and 2025 have paid for the commencement of this research. Additional funds are still required.
Visit the Florey website for more details.
Program 4: Biobanking for PURA Patient Samples
A PURA biobank is required for better understanding of the causes, range of
manifestations, and progression of this rare disease. Biological specimens are critical for genetic research, with ethics approval and protocols established to collect, analyse, and distribute biopsy specimens as appropriate.
This often includes liaising with the participant’s clinician and family to complete biopsy specimens at the point of surgery or sedation for other procedures.
DNA will be extracted and stored from biopsied tissue to facilitate genetic testing. Cell lines will be generated from biopsied tissue to facilitate in vitro functional studies and testing of potential therapeutics. This project is being organised.
Research Affiliates
PURA Medical Papers - Open access papers for download
Gene Review - PURA-Related Neuro-developmental Disorders 2017
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