PURA Foundation Australia

Imagine if your ability to communicate was hindered because your condition wasn't understood. This is the case for people with PURA syndrome. Our Foundation is looking forward to our research collaboration with Professor Angela Morgan and her team.

Everyone communicates differently. Whether it’s spoken, gestured, with switches, communication books or eye-gaze devices, communication bridges gaps, fosters understanding, and strengthens relationships. It’s about making connections and expressing ourselves in unique ways. It's Speech Pathology Week across Australia. An estimated 1.2 million Australians have communication support needs. The PURA Foundation Australia is fundraising to begin a research study with the Murdoch Children's Research Institute (MCRI) to examine PURA syndrome speech and language in a systematic manner. To support this research visit https://lnkd.in/gsA3K_Dm #MCRIresearch #puraperfect #purasyndrome #purafoundation #research #helpinghand #community #melbmara #Communication #speech #Speechpathology 

New publication - New Inherited PURA Pathogenic Variant Associated With a Mild Neurodevelopmental Disorder. Open access paper. What we know about PURA syndrome is evolving as new cases are diagnosed. Case reports are a unique asset in helping the diagnosis of rare diseases because they often present with a varied and complex phenotype, which might not appear in the general literature. This paper highlights that a PURA pathogenic variant may be inherited and that variants in PURA should be considered in a broader spectrum of phenotypes including speech disorder and borderline intellect.  Thank you to Michael Hildebrand, Angela Morgan, Mariana Lauretta, Ruth Braden, David Amor, Richard Leventer, Mel Anderson et al for their work. 💜 https://lnkd.in/gftWFaX8

Speech and language abilities of PURA patients are rarely formally assessed, likely because speech is often listed as ‘absent'. Unfortunately, the term ‘absent speech’ has not been further expanded upon. We need to formally document whether patients are truly non-verbal or minimally verbal, whether PURA patients have an ability to use alternative non-speech forms of communication such as sign language or communication devices, or whether their communication difficulties are due to severe speech motor or cognitive presentations. This October our PURA community is walking and running in the Melbourne Marathon Festival event to raise funds for clinical research into speech and communication for PURA syndrome. We have started collaborating with the Centre of Research Excellence in Speech and Language at the MCRI to begin organising the study. Visit Genetics Of Speech to find out more about PURA and communication. https://lnkd.in/gnWUNJcs #puraperfect #purafoundation #Communication #speech #genetics #rare #charity #research #helpinghand #community #purasyndrome

Funding research is a priority for the PURA Foundation Australia. Through the support of new scientific research programs and development of PURA clinical studies, the Foundation will advance science with the aim to develop new treatment options for PURA, improving education and understanding of PURA syndrome in the community. This October, our PURA families, friends, work colleagues and members of our research team will be completing the 2.5km walk or running in the Melbourne Marathon Festival to raise awareness and research funds. Please register to join us and walk or run with Team PURA. Register or donate here https://lnkd.in/gsA3K_Dm When we all work together, anything is possible. #puraperfect #purasyndrome #purafoundation #charity #research #helpinghand #community #melbmara #running #runforacause

If you haven’t done so already, please consider making a tax-deductible gift today as the financial year ends. Your support will be a valuable investment in the field of scientific research. Donate via our website at https://lnkd.in/gKSNwRTQ Your contributions, regardless of the amount, will make a significant difference in our research efforts. With your continued support, we are moving closer towards a better future for those with PURA syndrome. All donations over $2 are tax deductible in Australia. . #puraperfect #purasyndrome #purafoundation #charity #research #helpinghand #philanthropy

Imagine if your ability to communicate was hindered because your condition wasn't understood. This is the case for people with PURA syndrome. Speech and language challenges impact their ability to ask for basic needs, to explain pain and medical support required, and can impact their learning at school. We need to understand long term outcomes, and provide education and hopefully treatment planning. Please consider donating this end of financial year to help us give PURA patients a voice. The PURA Foundation Australia is fundraising to commence a research study on speech and communication with the MCRI Melbourne. All donations over $2 are tax deductible in Australia. https://lnkd.in/eWityjkU #puraperfect #purasyndrome #purafoundation #charity #research #helpinghand #philanthropy

An incredible weekend for our foundation. Thank you to everyone who joined Team PURA to walk, run and wheel their way around the Brisbane Marathon event with us. Friendships were made, funds were raised for research and lives were changed. Families, researchers, sponsors and Foundation as one community. #teampura #purafoundation #rare #purasyndrome #community #research

They shall grow not old, as we that are left grow old. Age shall not weary them, nor the years condemn. At the going down of the sun, and in the morning, We will remember them. Lest we forget. #anzacday2024

Thank you to Pedders Suspension & Brakes for their support of Team PURA at the Brisbane Marathon Festival. Pedders Suspension and Brakes are Australia’s leading manufacturer of service bodies for utes, trailers and trucks. They support us, please follow them and share the support. We are so appreciative of all our event sponsors, whose generous donations support Team PURA and our Foundation. Thank you for being part of our PURA community. #TeamPURA #pedders #community #purafoundation #rare #helpinghand #brismara2024