Over the years, researchers have turned to various types of gene therapies to treat genetic disorders and infectious diseases. Recently, a group of Israeli scientists from Tel Aviv University developed an innovative gene therapy for children with Dravet syndrome (DS).
Dravet syndrome is a rare form of epilepsy that presents in the first year of a child’s life. The syndrome is caused when a mutation occurs in the SCN1A gene. A normal SCN1A gene is imperative to maintain the proper function of brain cells. Children with this syndrome suffer from frequent seizures, speech and language delays, and behavioral challenges. DS seizures are difficult to control, which is why it is essential to introduce methods that will limit symptoms.
The current gene therapies available have been successful in DS mice. However, they were only successful when introduced to the mice in the early stages, before any symptoms were present. Thus, the therapy cannot be given to children with a DS diagnosis. Dr. Rubenstein stated that the team concentrated on “developing a treatment that would be effective after the onset of seizures even at a relatively late age” and “sought to develop a treatment that would alleviate both epilepsy and the cognitive symptoms.” Since the SCN1A gene is large, the team could not use a common virus and instead solved this issue with the Canine adenovirus type 2 to act as a carrier of the normal gene. After the carrier virus was injected into the brain of the DS mice, the researchers observed that the seizures stopped entirely within 60 hours of mice being injected at three weeks old. Additionally, they found that life expectancy increased, and cognitive impairment was fully repaired. The TAU team further explained that “the return of the normal gene in its entirety is particularly important for treating DS because, in different children, the mutation occurs in different places in the gene, and injecting a complete gene is a uniform treatment suitable for all DS patients.” They hope to use their technique to treat other rare forms of developmental epilepsies in children.
This research has been instrumental in advancing gene therapy as a potential treatment for rare genetic disorders such as Dravet Syndrome. Even though the treatment is still in its early stages, these developments hold enormous promise for the future of medicine and offer new hope to those individuals living with genetic disorders.
Thank you for reading,