Open Research Projects

The PURA Syndrome Foundation would like to encourage PURA Caregivers and Patients to participate in research studies when they become available. The PURA Foundation is not always affiliated with or sponsors these studies – we share them for informational purposes and for the benefit of our children, and all questions should be directed to the person conducting the research study.

Current Projects

Now Recruiting – Speech and language research for PURA Syndrome

**This is open to all PURA individuals worldwide**

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

or complete the experession of interest form for researchers

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

Volumetrics Study in Rare Disorders

**This is open to all PURA individuals worldwide**

Dr. Waugh is a pediatric neurologist and neuroscientist at UT Southwestern, in Dallas, Texas, USA. He uses MRI scans to understand how the brain is made differently in genetic syndromes. For many syndromes, including PURA, the brain MRI looks pretty normal. But when he combines groups of patients and compares them to groups of typically developing kids, he has found more subtle brain differences. By finding these syndrome-specific brain differences, the hope is that we can better understand why changes in the PURA gene cause the features of this syndrome.

What would you need to do?

If you’re interested in learning more, please email Dr. Waugh’s research coordinator, Ms. Alyssa Boudreau (alyssa.boudreau@utsouthwestern.edu). If you agree to participate, they will arrange a secure transfer for you to send a copy of your child’s MRI scan. You can also mail disks (CDs) with the MRI data, if that’s easier for you.

All research will be carried out anonymously – nothing would be shared with others, and nothing would be published that could identify your child.