The following is a transcription of a news release by IWSA (International WAGR Syndrome Association).

Research In WAGR Syndrome Patients Shows Importance of BDNF Gene In Pain Perception

Research published in the February 2019 issue of the journal, PAIN, has important implications for individuals with WAGR syndrome, and could also lead researchers to new methods for controlling pain.

The report details findings from the National Institutes of Health (NIH) Study of Aniridia, WAGR syndrome, and 11p Deletions. In that study, which spanned 2006-2014, researchers noted that some parents of patients with WAGR syndrome reported that their children appeared to have severely impaired ability to feel pain. They reported that significant injuries and even broken bones often went unnoticed.

Sensory testing revealed that patients with WAGR syndrome who had both copies of the brain-derived neurotrophic factor (BDNF) gene had normal/expected levels of sensitivity to pain. But patients with WAGR syndrome who were missing one copy of the BDNF gene had a “strong reduction” in their ability to sense pain.

These study results are important because approximately fifty percent of WAGR syndrome individuals are missing the BDNF gene. Decreased ability to feel pain puts them at risk for delays in diagnosis and treatment of medical conditions. Awareness of this feature and close monitoring of symptoms may help parents and physicians to safeguard the health of patients with WAGR/BDNF gene deletion

This research is also exciting because it offers new insight into how pain circuits function in humans. This insight could lead to new types of medications and new ways to manage pain.