Epileptic encephalopathies are severe genetic disorders resulting in intractable seizures and pronounced developmental delay. Current treatment is mainly supportive and aims to prevent symptoms. Tailored therapies that directly modulate the biological pathways leading to disease, instead of simply repressing symptoms, are urgently needed to improve therapies and possibly find future cures for epileptic encephalopathies.
Dr. Barakat’s studies have identified a number of genes involved in biological pathways that were previously not implicated in epilepsy. For this project, his team will use human cell models and zebrafish to develop novel therapies for epileptic encephalopathy by targeting metabolic processes implicated in these pathways.