In pediatric neurology, many diseases are caused by absent or mutated genes. The genomic revolution has allowed scientists to sequence the genome of every patient, identifying the cause of the problem. But knowing the cause isn’t enough; doctors have to be able to treat it. Unfortunately, rare neurological diseases are often overlooked, leaving a significant gap in research and treatment. These conditions are called “orphan diseases” because there’s no one to look out for them.
Researchers at the UT Southwestern gene therapy center are working to end this problem. Pediatric neurologist Dr. Berge Minassian and molecular biologist Dr. Steven Gray are investigating ultra-rare deadly brain diseases that are caused by a missing gene, and treating patients with a clinical-grade virus that replaces the missing gene. Their research could lead to therapeutic advances for common, complex diseases in which multiple genes are affected.
Read the full article and watch the video on UT Southwestern Medical Center website.