Professor Dimitri Kullman and his team at the UCL Institute of Neurology are developing a new technique to correct the genetic mistake responsible for focal cortical dysplasia (FCD), the most common cause of drug-resistant epilepsy in children. The treatment aims to stop a child’s seizures, which in many cases cannot currently be helped by drugs or surgery.
Why this research is vital
Focal cortical dysplasia (FCD) is a genetic condition affecting the brain during development, in the womb. FCD is the most common cause of childhood epilepsies that do not respond to anti-seizure medicine. FCD is also known to cause intellectual disabilities.
One option for these children is surgery to remove the brain tissue (lesion) causing their seizures. But for many this surgery is unsuccessful or impossible because the lesion is too close to essential areas of the brain that control language, vision, movement or memory.
These children are therefore left living with debilitating seizures and other severe symptoms, with no hope of effective treatment. New, less invasive and more effective treatments are desperately needed.
Pioneering gene therapy
Gene therapy is an incredibly promising technique that has already seen huge success in areas of childhood medicine such as immune system disorders. The approach involves correcting genetic faults in a person’s DNA, by delivering corrected DNA to their cells.
Gene therapy is emerging as a potential cure for various genetic diseases of the brain and, excitingly, could be used to help children with FCD and epilepsy.
Epilepsy is caused by changes in the behaviour of nerve cells in the brain, which pass vital messages around the body. Most children with FCD, have faults in their DNA that cause their seizures.
Professor Dimitri Kullman and his team at the UCL Institute of Neurology have successfully pioneered several gene therapies to treat epilepsy, some of which will soon enter clinical trials. They now hope to apply their learnings to develop a gene therapy for children with FCD.
Impact of this project
This work could offer children, whose epilepsy cannot be treated with surgery, hope for the first time. The team have a track record of driving new gene therapies for epilepsy towards clinical trial, while ensuring rigorous safety testing.
This will ensure children with FCD get access to any effective treatments as quickly as possible. The team’s work will also shed light on exactly how genetic faults affect behaviour of vital nerve cells in the brain.
This project is jointly funded by Sparks and charity partner Great Ormond Street Hospital Children’s Charity through their national research funding call.