PURA Foundation Australia

10 years ago today, the first clinical paper to recognise PURA syndrome as a condition was published. PURA syndrome is a rare neurodevelopmental disorder that affects infants and children, causing developmental delay, movement disorders and seizures that are challenging to manage. PURA Foundation Australia is the only charity established to support individuals and families living with PURA syndrome across Australia and New Zealand. The foundation is led by Mel Anderson, Director and Chair, whose daughter was diagnosed with the condition. Today, PURA Foundation Australia supports The Florey's research into genetic epilepsy, led by Professor Christopher Reid. We are immensely proud to partner with Mel and PURA Foundation Australia, and are grateful for their support that helps us better understand the disease and design more precision therapies to help children with PURA syndrome and their families. 🔗 Read our story: https://lnkd.in/gdiTdiaQ

PURA syndrome was first recognised as a condition in 2014. October 23rd is celebrated as PURA Syndrome Awareness Day globally each year due to the publication of a clinical paper by David Hunt on October 23rd 2014. Three Australian researchers Richard Leventer, Cas Simons and Ryan Taft were co-authors, with the first Australian PURA patient included in this paper. Happy 10th birthday PURA syndrome. PURA syndrome is a rare neuro-developmental disorder. The PURA Foundation Australia is the only non-profit charity that has been established for individuals with PURA syndrome and their families, across Australia and New Zealand. We assist the PURA syndrome community by supporting and initiating research, raising awareness, and providing education. Alone we are rare. Together we are strong. #purafoundation #PURAresearch #puraperfect #teampura #purasyndrome #raredisease #Rare #epilepsyawareness #epilepsy #puraproud #purasyndromeawareness #10years The Florey Murdoch Children's Research Institute (MCRI)

In Australia, 170 people die every year from Sudden Unexpected Death in Epilepsy (SUDEP). This SUDEP Action Day, leading experts in epilepsy are raising awareness about the risks of SUDEP. For more information around SUDEP, please visit https://lnkd.in/gqFvmiP #SUDEP #EpilepsyAwareness #SUDEPActionDay #OurRisksOurRights

Communication helps us build relationships by allowing us to share our experiences and needs, helping us connect to others. It allows us to express feelings, pass on information and convey our thoughts and ideas. Yesterday PURA families, clinicians, scientists, and the PURA Foundation Australia came together to complete the Melbourne Marathon Festival, raising awareness and funds to support Speech and Communication research for PURA syndrome at the Murdoch Children's Research Institute (MCRI). Thank you to the 96 members of team PURA who ran, walked or wheeled their way around the Melbourne Marathon event. It was a wonderful day that strengthened relationships, created connections and increased understanding. We look forward to the commencement of this new research. Together we can do anything. #TeamPURA #puraperfect #PURAstrong #purafoundation #charity #research #family #puraproud #PURAsyndrome #helpinghand #community #communication #SpeechPathology

Vulnerability is how we establish trust. Genuine connections with others can arise when we lower our guard and share our honest ideas. Being vulnerable allows us to recognise the hardships and experiences of one another, which in turn promotes empathy and understanding. This weekend PURA families, clinicians, scientists, and the PURA Foundation Australia came together as one community to raise awareness and funds for PURA syndrome through the Melbourne Marathon Festival. Families travelled from across Melbourne, with one driving 2 days from NSW to be with us. They had never met anyone, other than their own child, with PURA syndrome. It left them vulnerable but created trust and empathy that can never be undone. Coming together at this event as a community created a connection and a greater understanding of both the condition and need. Need for answers, need for research and a drive to create needed change. Whilst these events leave me emotionally spent, they also remind me of why I do this. Our community need may at times seem insurmountable, but I know that small steps will lead to our success. If we trust one another, we will get the answers we need. The greatness of a community is measured by the actions of its members. Together we can do anything. #community #puraperfect #TeamPURA #purasyndrome #raredisease #purafoundation #puraproud #purastrong #rare #research #puraresearch #connection The Florey

Finding Strength in Community. Today our PURA community will come together to run, jog, wheel and walk the Melbourne Marathon to raise funds for speech and communication research for PURA syndrome. Yesterday families met with Dr Miya St John for photos to raise awareness of PURA syndrome and our research at the Murdoch Children's Research Institute (MCRI). Thank you to the Herald Sun for highlighting the Foundation in the Sunday paper today.

It’s one thing to be part of an organisation. It’s another thing to be part of a community. Community unites us. It can make us feel as though we are a part of something greater than ourselves. Getting a rare disease diagnosis helps you find your community. This weekend a 90 strong Team PURA community will come together for the Melbourne Marathon event, united in our goals to raise awareness and funds for PURA research in Australia. Researchers from the Murdoch Children's Research Institute (MCRI), Melbourne University and The Florey Institute, will be walking in the team with us, beside us, for us. In the lead up to the fundraising event this weekend, my daughter and I had the opportunity to meet with Christopher Reid, Ryan McCarthy and Georgia Brown from The Florey to discuss PURA syndrome and celebrate the start of our PURA Epilepsy Research. The search for more effective and possibly targeted epilepsy treatments for PURA patients has been discussed in our community for the past 10 years. PURA is a disorder where the epilepsy can be devastating. Once it starts, it can rarely be fully controlled. Together with The Florey Institute, the PURA Foundation Australia may finally be able to change this narrative for our community. Alone we are rare. Together we are strong. Clinicians, scientists, families, and Foundation as one community.  #TeamPURA #epilepsy #puraperfect #purasyndrome #purafoundation #purafoundationaustralia #puraproud #purastrong #charity #research #puraresearch #epilepsyresearch #nomoreseizures

Significant speech and language challenges have been reported in individuals with PURA syndrome. These challenges may impact their ability to ask for basic needs, to explain pain and medical support required, and impact their learning at school. The PURA Foundation Australia, in collaboration with Speech and Language Group at the Murdoch Children's Research Institute (MCRI) is beginning research focussed on examining speech and language of PURA syndrome in a systematic manner. Wonderful to meet today with Dr Miya St John who will be working with our families. Key research aims are to characterize the speech and language abilities of individuals with PURA syndrome, to provide clearer diagnosis, prognosis and treatment planning, education materials, and to inform speech and language outcome markers necessary for future clinical trials. We expect to start recruiting for this research in November 2024. #TeamPura #purafoundation #puraperfect #purastrong #rare #raredisease #Communication #charity #purasyndrome #PURAperfect #purasyndromeawareness #research

With more than 10000 rare disease affecting 400 million people worldwide, rare is everywhere. But how rare is PURA syndrome? There are approximately 706 patients with PURA syndrome confirmed globally, across 60 countries, with 30 patients confirmed in Australia - New Zealand. To date there have been 317 different pathogenic (disease causing) variants of the PURA gene reported in public data. The p.Phe233del variant is the most common, with 45 cases confirmed so far, accounting for at least 6% of the patient population. With increased awareness and diagnostic testing, our numbers and community are growing. Alone we are rare, together we are strong. #puraperfect #TeamPURA #happybirthday #purasyndrome #raredisease #purafoundation #purafoundationaustralia #puraproud #purastrong #rare #research #puraresearch #purafoundation #community

PURA clinical epilepsy research published in 2021 highlighted the need for scientific studies focussed on PURA epilepsy. 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. Visit our website to learn more about our research. www.purafoundation.au Be the change you want to see in the world. #PURAfoundation #TeamPura #purasyndrome #puraperfect #epilepsyawareness #epilepsy #seizureawareness #research #PURAresearch #change #purafoundationaustralia