Connor, a 15-year-old from the United States who has lived with a rare genetic disorder caused by a mutation in the SCN2A gene, has regained the ability to walk without assistance after receiving a personalized gene therapy developed exclusively for him.
Connor began suffering daily epileptic seizures when he was just eight months old, but it was not until 2014 that doctors identified the genetic cause of his condition. The disorder can trigger uncontrollable seizures, developmental delays, autism, motor impairments, and gastrointestinal problems. At one point, his doctors believed he would not survive beyond the age of five.
The experimental treatment, developed by a U.S. research team and described in the journal Nature Medicine, represents a major step toward personalized medicine. Researchers say the work could pave the way for future gene therapies tailored to patients with similar genetic mutations, offering hope for conditions that are not effectively treated with conventional anti-seizure medications.
