PURA Foundation Australia
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 treatments.
Every lived experience brings us one step closer to improving care and unlocking treatment possibilities for the PURA community.
To be involved in this international DEE research project:
1 - Please visit Genetics of Epilepsy Patient Portal to create an account.
Please enter your details and then scroll to the bottom and click Save.
2 - Select Proceed to Study.
Instructions on how to complete the registration can be downloaded here.
A member of the DEE Research Team will contact you for the next steps (likely Jazmyn)
If you would like more information email genetic-epilepsy@unimelb.edu.au
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.
The Florey - Home of Brain Research
Advancing treatments for severe genetic epilepsies - Read details from the Florey website
It was heartening, listening to the research updates during the "From Genes to Hope: Advancing Treatments for Severe Genetic Epilepsies" event at The Florey yesterday. The vibrant purple attire worn by so many was a beautiful show of solidarity and support for a cause that affects so many families.
Whether in person or online, participation contributed to a meaningful and inspiring discussion about the promising advances in research and treatments for childhood epilepsy, along with recognition of the difficulties being faced by families involved. The event left everyone with a renewed sense of hope for the future and a deep appreciation for the hard work and dedication driving this vital field forward.
Speakers included The Florey’s Professor Christopher Reid and Associate Professor Snezana Maljevic, paediatric neurologist Dr Katherine Howell, Stuart Place from SLC6A1 Kids and Mel Anderson from PURA Foundation Australia.
Thank you to The Florey for hosting the event, recognising our Foundation, and raising awareness for genetic epilepsies like PURA syndrome on World Epilepsy Day.