Mechanisms and targeted treatment for neurogenetic disorders: SCN2A

This project will develop new therapies for severe developmental and epileptic encephalopathies and autism disorders caused by mutations in the SCN2A gene and ultimately for other genetic disorders that affect the nervous system. While these disorders are rare, the unmet need is extremely high: conventional anti-epileptic drugs are mostly ineffective in the treatment of seizures and have no impact on cognitive and developmental delay seen in the affected children. The SCN2A gene has emerged as the major single gene linked to neurogenetic disorders. It encodes a brain sodium channel essential for the regulation of neuronal excitability. Joining the efforts of experts in clinical and functional epilepsy research, neurodevelopment and stem cell molecular genetics, this team aims to use induced pluripotent stem cell (iPSC) models to identify SCN2A disease mechanisms and assess the efficacy of SCN2A targeted treatments in these models. This will enable accelerated deployment of novel therapies that will lead to preferable clinical outcomes, improved quality of life for patients and their families and thus reduced socio-economic burden.

For more information on this project contact Linda Cox on or +61 418 583 986.

Investigators from University of Melbourne

Investigators from other institutes