The CIPF and the UPV are investigating a rare childhood disease with a genetically modified fly model

It is a neurological disease that triggers minor epileptic seizures and severe cognitive and behavioral alterations.

Dravet syndrome has one of the highest mortality rates among the epileptic syndromes.

Valencia – A team from the Príncipe Felipe Research Center (CIPF) has generated and modified a fruit fly model in the laboratory to characterize it with genetics, neurobiology and physiology similar to that of patients with Dravet Syndrome (DS). a rare and serious childhood epilepsy. It is a new way to investigate the process that triggers the disease and to search for new treatments, biomarkers or genetic modifiers.

The team, led by Máximo Ibo Galindo, researcher at the Joint Unit UPV-CIPF Developmental Biology and Disease Models, has deactivated a gene in the research model (the fruit fly) in order to study Dravet Syndrome, a Childhood neurological disease that causes uncontrolled seizures, severe cognitive and behavioral disturbances, and has one of the highest mortality rates among the epileptic syndromes.

The fly with the gene inactivated in the laboratory presents symptoms reminiscent of those suffered by children with this rare type of epilepsy: seizures, neuromuscular, behavioral and learning defects. Flies also suffer from nerve and other disturbances consistent with Dravet Syndrome and other forms of epilepsy.

“In addition to seizures, we have observed neuromuscular alterations in the climbing, flight and gait tests, and also some cognitive alterations, such as anxiety and learning problems,” says the researcher.
Galindo and his team have analyzed the heads of flies and have detected, among other things, an increase in the substance that sends messages to the central nervous system (Gaba), which is the main neurotransmitter involved in Dravet Syndrome.

The next goal is to use this new model to develop new personalized treatments for the disease.

The project is funded by the ApoyoDravet association, which has been collaborating with the Galindo group since 2016. The research is also funded by the Conselleria de Sanidad Universal y Salud Pública through the Prometheus program. In addition, part of the equipment used at work is financed by the Generalitat Valenciana and co-financed with Feder Funds (Valencian Community Operational Program 2014-2020).

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