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:
To speak with us about research please contact Mel Anderson
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 Raoul Heller
Genetic Health Service
Dr Anne Ronan
PURA syndrome research opportunities.
The PURA Foundation Australia supports global research initiatives for PURA syndrome as well as research projects across Australia and New Zealand.
Ongoing - PURA Natural History Study (Australia and New Zealand)
To be announced for Rare Disease Day Feb 29th 2024
Ongoing - PURA Biobank
The PURA Biobank (Helmholtz Munich, Germany) will involve the collection of a combination of prospective and retrospective samples from consenting PURA syndrome patients globally. The samples will be used for research with the long-term goal to understand and develop treatment strategies for PURA syndrome patients. The PURA biobank is expected to commence late 2023.
The PURA Foundation Australia will be developing ethics agreements and sample kits for Biobank Storage in Melbourne, for Australian and New Zealand patients. These samples can be used for local research projects as well as inclusion in the PURA Biobank. For further information please email Mel Anderson.
PURA Medical Papers - Open access papers for download
Gene Review - PURA-Related Neuro-developmental Disorders 2017
Johannesen at al 2020 - PURA Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum
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