PURA Foundation Australia
PURA 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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Clinical research
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Biobanking
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Epilepsy/Neurological research
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Applied/Translational research
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Diagnostic testing
To speak with us about research please contact Mel Anderson
NEW research study for PURA syndrome launched on rare disease day
Research is creating new knowledge. #PURAresearch
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.
Dr Anne Ronan
Clinical Geneticist
Medical Genetics
Newcastle NSW
Prof Dierk Niessing
Structural & Stem Cell Biologist
Group Leader - Ulm University and Helmholtz Munich Germany
Prof Michael Hildebrand
Prof Angela Morgan
Speech Pathology - Director Genetics of Speech MCRI, Director of Research, Health Sciences Uni of Melbourne
Dr Raoul Heller
Clinical Geneticist
Genetic Health Service
New Zealand
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. We aim to launch this plan towards the end of 2024.
Program 1: Natural History Study
With increased diagnostic testing comes additional and at times, milder cases of PURA syndrome. As such, the medical and parent community needs an updated overview of the condition. This clinical research aims to understand the full spectrum of PURA syndrome (such as hypotonia, speech difficulties, seizures, movement disorders etc.) to help guide research and provide updated education. Through our Natural History Study, we aim to understand common PURA syndrome clinical characteristics to determine possible treatment requirements, and develop education material for medical practitioners, allied health, and community members. The Murdoch Children’s Research Institute (MCRI) will maintain guardianship of the research project and collected data. For project details visit the project page here
This research project is being funded by the PURA Foundation Australia.
Funds raised during the Melbourne Marathon Festival 2023 have paid for this research.
Program 4: Biobanking for Patient Samples
A PURA biobank is required for better understanding of the causes, range of manifestations, and progression of this rare disease. Biospecimens are an important component of genetic research, with ethics approval and protocols established to collect, analyse, and distribute biospecimens as appropriate. This often includes liaising with the participants clinician and family to complete bio-sample collections at the point of surgery or sedation for other procedures. DNA will be extracted and stored from biospecimens to facilitate genetic testing. Cell lines will be generated from bio-specimens to facilitate in vitro functional studies and testing of potential therapeutics.
The PURA Foundation Australia will provide further details about this program towards the end of 2024.
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