Exploring gene therapy with University College London
Lead researcher: Dr Rajvindar Karda
Partners: University College London | Great Ormond Street Hospital Children's Charity
Start date: 2020
This project is building on previous research into the faulty SCN1A gene that people with Dravet Syndrome can have. Each person has two copies of the SCN1A gene. Someone with Dravet may have one healthy SCN1A gene and another that is faulty. The aim of this research is to find a way to edit the messages sent to these genes to reduce symptoms of Dravet Syndrome.
Researchers inject newborn mice that have Dravet Syndrome with an experimental viral vector that changes their RNA before any symptoms develop. This boosts their healthy SCN1A gene so that it can reduce the Dravet Syndrome symptoms associated with their one faulty SCN1A gene.
Results have shown that the treatment reduces symptoms of Dravet Syndrome, including cognitive decline and mobility. This kind of gene therapy has been used to successfully treat spinal muscular atrophy in clinical trials and is now available on the NHS for that condition.
This research is very exciting as it could offer a new treatment for Dravet Syndrome when a child first shows symptoms of the condition, or even when they are born. Researchers need to carry out further, bigger studies to test their ideas and this treatment.