PURA Foundation Australia
PURA Foundation Australia Epilepsy Research
With over 50 million people worldwide affected by epilepsy, there are still countless forms of this disorder that remain misunderstood or under-researched.
As we continue to push for progress, genetic epilepsy research remains one of the most crucial areas for development. For many living with genetic forms of epilepsy, effective treatments are still not available, and many face uncertain futures. Why is genetic epilepsy research so important?
Better treatments – Advancing research means discovering more targeted and effective treatments for drug resistant epilepsy conditions like PURA syndrome.
Innovation – The more we learn about the various forms of epilepsy, the closer we get to uncovering groundbreaking therapies that could change lives.
Hope for the future – Continued investment in epilepsy research can provide families with the possibility of better outcomes, fewer seizures, and an improved quality of life.
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.
Program 1: Developmental and Epileptic Encephalopathy Research (DEER) study
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.
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 have paid for the first stage of this research. Additional funds are still required. Visit the Florey website for more details.
Program 2: PURA Therapeutic Epilepsy Studies
