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RNA-based drugs to help against Dravet Syndrome. New funding for Prof. Mallamaci’s lab

“We are using an experimental approach based on a set of RNA drugs we recently developed in our lab. The aim of this new project is to cast light on specific aspects of this method which still need to be clarified, along a pathway which – in the future – might turn this approach into a cure for patients suffering from Dravet Syndrome”. This is how Antonello Mallamaci, neurobiologist at SISSA (Scuola Internazionale Superiore di Studi Avanzati), tells about the new research which has just been funded by the Italian charity Gruppo Famiglie Dravet Onlus, supported by five other European associations dedicated to Dravet Syndrome: Associaçào Sindrome de Dravet Portugal, Dravet-Syndrom e.V Germany, Dravet Syndrome Sweden Association, Stichting Dravetsyndroom Netherlands, Swiss Dravet Syndrome Association, coordinated by the Dravet Syndrome European Federation (DSEF).

Dravet Syndrome is a type of epilepsy whose symptoms appear during the first year of life, with serious consequences in terms of the psychomotor development of young patients. Its most frequent cause is loss or damage incurred by one of the two copies of the SCN1A gene. This gene drives the production of a specific neuron membrane channel, which regulates brain electrical activity. To allow our brain to function correctly, both SCN1A copies need to work: “Our strategy will attempt to solve the problem by stimulating the activity of the only functioning copy of the gene”, explains Antonello Mallamaci. “By getting the single active copy to work harder, it might be possible to restore sufficient levels of this gene’s products, thus helping retrieve the required nerve functionality. However, there still remain some key aspects to be investigated, and this is exactly what we will be doing thanks to this new valuable funding”.

This project will last one year; it constitutes the follow-up to a research started thanks to a funding from a United States organisation called CURE (Citizen United for Research in Epilepsy). Researchers will conduct a study with “the aim to provide the necessary basic evidence before moving on from the study of the Scn1a gene in mice – which is currently being used for testing – to its human counterpart”. There is more, though: “We believe that our experimental plan could also have a profound impact on other types of epilepsy caused by a defect in the number of functioning gene copies. We can call it a general operating approach, which it could be applied for other pathologies treatments - all from the same family - for which developing effective cures still seems far-fetched, due to their heterogeneous causes, their rareness and large capital investments required to investigate them”.