Research Opportunity: Volumetrics Study in Rare Disorders

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.