PURA Foundation Australia
Now Recruiting - Epilepsy Natural History Study for PURA
PURA clinical epilepsy research published in 2021 highlighted the need for additional studies focussed on PURA epilepsy. Through the Developmental and Epileptic Encephalopathy (DEE) Study, we aim to understand the common PURA syndrome clinical characteristics to determine possible treatment requirements and define outcome markers necessary for future clinical trials.
Key research aims are to define the spectrum of PURA epilepsy, describing and comparing seizures and non-epileptic events seen in PURA syndrome. This includes looking at the types, frequency, patterns and severity of seizures, as well as other related issues like developmental delays, cognitive problems, and motor difficulties. PURA individuals with and without epilepsy can be involved.
Individuals with a confirmed diagnosis of PURA syndrome or 5q31.3 deletion syndrome (including PURA) are encouraged to join this study. For more details - Genetics of Epilepsy website
To be involved in this international epilepsy 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.
3 - Instructions on how to complete the registration can be downloaded here.
A member of the Epilepsy Research Team will contact you for the next steps.
If you would like more information email genetic-epilepsy@unimelb.edu.au
This project is 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.