Dr. Moran Rubinstein (TAU)
A discovery made by Israeli scientists may help children suffering from Dravet Syndrome, a severe and fatal developmental epilepsy syndrome that affects children using an innovative gene therapy. Researchers hope that this genetic therapy can also be adapted to other types of genetic epilepsies and think that the tools developed in this research will pave the way for the development of similar treatments for other rare diseases.
Researchers at Tel Aviv University, among other institutions, are making progress in developing gene therapies for Dravet syndrome. This is a devastating disease that can have a profound impact on the lives of children and their families. Any treatment that can help to improve the quality of life for people with Dravet syndrome is a major step forward.
The researchers say they have developed an innovative gene therapy that may help children suffering from Dravet syndrome (DS) – a severe developmental epilepsy that results from a genetic mutation not inherited from the parents, but occurs randomly in the fetus, in a gene called SCN1A. Dravet syndrome manifests as severe epilepsy that is not well controlled by medication, together with developmental delays, cognitive impairment, and a high chance of early death.
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As part of the study, a virus carrying a normal SCN1A gene was injected into the brains of DS mice, and the treatment was found to be effective in a variety of critical aspects: improvement in epilepsy, protection from early death, and significant improvement of cognitive abilities. And the important result, said the researchers, was that this treatment was effective after the onset of severe epilepsy in Dravet.
“We hope that the technique we developed in the laboratory will also reach the clinic in the future and help children with this serious disease,” they said. “In addition, since there is a similarity between Dravet and other rare developmental epilepsies, in terms of the patient’s symptoms and brain changes, we hope that this treatment can also help other types of genetic epilepsies, and we think that the tools we developed in this research will pave the way for the development of similar treatments for other rare diseases.”
The research was conducted under the leadership of Dr. Moran Rubinstein and graduate student Saja Fadila, along with Anat Mavashov, Marina Brusel and Karen Anderson, all from the Sackler Faculty of Medicine and the Sagol School of Neuroscience at Tel Aviv University, and Dr. Eric Kremer, from the University of Montpellier in France. Also participating in the study were Bertrand Beucher and Iria González-Dopeso Reyes from Montpellier and other researchers from France, the USA and Spain. The research was published in the Journal of Clinical Investigation.
According to Dr. Rubinstein, “Dravet syndrome, whose incidence is approximately one in 16,000 births, is considered relatively common among rare genetic diseases. As of today, there are approximately seventy children living in Israel who suffer from DS. It is a severe developmental epilepsy, which begins with thermally-induced seizures around six months of age, and progresses, after one year of age, to frequent spontaneous epileptic seizures along with motor and cognitive developmental delays.”
She further explained that the existing drugs for epilepsy do not sufficiently help children with DS, who are at significant risk of early death.
The researchers explained that their treatment added a normal gene to the damaged neurons in the brain, which was enough to restore them to normal function.
“ The return of the normal gene in its entirety is particularly important for treating Dravet syndrome,” they said, “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. In addition, we found that the virus chosen for the purpose of the study infects many nerve cells in the brain, and spreads widely beyond the injection site, adding to its effectiveness.”
