- Today marks the 10th anniversary of the first clinical paper to recognise PURA syndrome as a condition.
- PURA syndrome is a condition that causes movement disorders, developmental delays and seizures in infants and children.
- PURA Foundation Australia supports The Florey’s research into epilepsy treatments, led by Professor Christopher Reid.
Stronger together
On 23 October 2014, the first clinical paper to recognise PURA syndrome as a condition was published – written by a team of researchers led by Dr David Hunt from the University of Southampton.
PURA syndrome is a rare neurodevelopmental disorder caused by variants in the PURA gene. The gene provides instructions for making the protein Pur-alpha (Purα), which is vital for brain development.
As a result, PURA syndrome affects infants and children, causing developmental delay, movement disorders, speech difficulties and seizures that are challenging to manage.
Mel Anderson is the Director and Chair of PURA Foundation Australia, the only charity established to support individuals and families living with PURA syndrome across Australia and New Zealand.
Mel’s daughter, Sarah, was diagnosed with PURA syndrome in 2014.
Today, PURA Foundation Australia supports The Florey’s research into genetic epilepsies, led by Professor Chris Reid. Professor Reid leads our team in the search for more effective and targeted epilepsy treatments for PURA patients.
Professor Reid explains that PURA Foundation Australia is providing support to develop and characterise a mouse model of PURA syndrome.
Our hope is to better understand what is causing the disease. By understanding this, we can design therapies that are more precise in the hope of helping not just the seizures, but the myriad of other symptoms these children have.
The research project – a collaboration between PURA Foundation Australia, The Florey, and the University of Melbourne – will also help inform PURA syndrome therapeutic clinical trials, and provide knowledge for PURA patients and families.
Professor Chris Reid joined PURA Foundation Australia community in the 2024 Melbourne Marathon, walking alongside 90+ participants including clinicians, scientists, volunteers and families.
“It was a privilege to walk with PURA families at the Melbourne Marathon Festival in support of their cause. The PURA Foundation Australia is the motivating force behind creating the PURA mouse. With their support, we hope to better understand the syndrome and help children with PURA syndrome and their families.”
23 October is now recognised as PURA Syndrome Awareness Day globally each year.
*Photos in this story supplied by PURA Foundation Australia
