Dravet syndrome, a type of epilepsy, is incredibly hard to treat. A majority of children with Dravet syndrome have a mistake in the same gene which causes their disease. This means that fixing the genetic mistake could offer hope to many families. Dr Karda and her team are trying to do just that using gene therapy.
Why this research is vital
Dravet Syndrome is a rare, inherited, form of epilepsy that starts in infancy. Often, the seizures are accompanied by high fever and can lead to damage in the brain, or even mean that the child stops breathing. Many children go on to have problems with their development, including autism, and have difficulties moving. There is no cure.
Currently, surgery is one of the only options for these children. The surgery removes the part of the brain causing the seizures, but this is very invasive, hard to do, and does not guarantee an improvement in symptoms. As with any surgery, it also carries its own risks.
Gene therapy is a new and pioneering technique that corrects the genetic mistakes that cause some diseases. Up to 80% of children with Dravet syndrome have a mistake in part of their DNA instruction manual; a mistake that causes their disease.
Dr Rajvinder Karda at University College London is pioneering gene therapy to correct this mistake, potentially offering an effective treatment, or even a cure.
Impact of this project
If successful, this could lead to the first ever potential cure for children with Dravet Syndrome and offer hope for other similar inherited epilepsies.
This project is funded by Sparks, Great Ormond Street Hospital Children’s Charity and Dravet Syndrome UK through their national research funding call.