top of page
Screenshot 2024-07-09 at 4.08.23 pm.png

PURA Foundation Australia Research

The PURA Foundation Australia is committed to supporting individuals with PURA syndrome and their families, as well as working with researchers and the medical community to increase understandings and improve treatment options.

We aim to advance knowledge of PURA syndrome and the PURA gene by supporting researchers, universities, research institutes and hospitals, with a commitment to encouraging innovation and excellence in medical and scientific research.
 

Our areas of focus include:

  • Clinical research

  • Biobanking

  • Epilepsy/Neurological research

  • Applied/Translational research

  • Diagnostic testing
     

To speak with us about research please contact Mel Anderson

​

Research is creating new knowledge.    #PURAresearch

PURA Foundation Australia Scientific and Clinical Advisory Team
The PURA Foundation Australia Scientific and Clinical Advisory Team assist our Foundation in undertaking research and educating the community about PURA syndrome. 

Prof Richard Leventer

TEAM LEADER Neurologist
RCH Melbourne VIC
Group Leader - MCRI 

icons_edited.png

Prof David Amor

Clinical Geneticist
Group Leader - MCRI 
Genetics of Speech MCRI

The Florey - Home of Brain Research


A walk to change the future of children and families with PURA syndrome

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.
 

To read more visit the Florey website

​

Screenshot 2024-10-23 at 5.03.42 pm.png

Translation Centre for Speech Disorders (MCRI) 

Improving Speech and Language for PURA.

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 Translation Centre for Speech Disorders at the Murdoch Children's Research Institute - MCRI is beginning research focussed on examining speech and language of PURA syndrome in a systematic manner.

Key research aims are to characterise the speech and language abilities of individuals with PURA syndrome, to provide clearer diagnosis, prognosis and treatment planning, new education materials, and to inform speech and language outcome markers necessary for future clinical trials. To be involved in this international research project, please email researchers at geneticsofspeech@mcri.edu.au

 

For more details download the study flyer or visit the Genetics of Speech MCRI Website

Screenshot 2024-10-23 at 5.15.12 pm.png

PURA Foundation Australia Research

The PURA Foundation Australia, with the input of scientific and community stakeholders, is developing a strategic research plan to provide additional research for PURA syndrome. It is hoped this will help to accelerate understandings, create education materials and aid development of new treatment options for PURA. 

PURA_Icons_Research_v2-02_edited.png

​


With increased diagnostic testing comes additional and at times, milder cases of PURA syndrome. As such, the medical and parent community needs an updated overview of the condition. This clinical research aims to understand the full spectrum of PURA syndrome (such as hypotonia, speech difficulties, seizures, movement disorders etc.) to help guide research and provide updated education.

 

Through our Natural History Study, we aim to understand 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 Murdoch Children’s Research Institute (MCRI) will maintain guardianship of the collected data.  
 

Program 1: Natural History Study

​​​

PURA clinical epilepsy research published in 2021 highlighted the need for additional 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.

​

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

PURA_Icons_Research_v2-03_edited_edited.png
PURA_Icons_Research_v2-04_edited.png

​​
 

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) has begun research focussed on examining speech and language of PURA syndrome in a systematic manner. 

Key research aims are to characterize the speech and language abilities of individuals with PURA syndrome, to provide clearer diagnosis, prognosis and treatment planning, and to inform speech and language outcome markers necessary for future clinical trials.

 

By characterising the speech and language abilities of individuals with PURA syndrome, we anticipate increased community education and improved treatment planning for PURA patients, their families, and clinicians. Fundraising for this research project has been completed through the Melbourne Marathon Festival 2024.    This international study is currently recruiting here.

Program 3: PURA Communication and Speech

​

​

A PURA biobank is required for better understanding of the causes, range of manifestations, and progression of this rare disease. Biospecimens are an important component of genetic research, with ethics approval and protocols established to collect, analyse, and distribute bio-specimens as appropriate. This often includes liaising with the participants clinician and family to complete  bio-sample collections at the point of surgery or sedation for other procedures. DNA will be extracted and stored from biospecimens to facilitate genetic testing. Cell lines will be generated from bio-specimens to facilitate in vitro functional studies and testing of potential therapeutics.

The PURA Foundation Australia will provide further details about this program towards the end of 2024.
 

This Program will support the work being completed in Programs 1-3.

​

Program 4: Biobanking for Patient Samples

PURA_Icons_Research_v2-05_edited.png

We Need Your Support Today!

bottom of page