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FCD-Genomics

Focal cortical dysplasia (FCDs) are disease states diagnosed in childhood and adults. They are frequently associated with drug resistant severe epilepsy as well as with cognitive-behavioral deficits. Typically cortical lesions are isolated and range in their severity from mild cortical dyslamination without cytological abnormalities to severe dyslamination accompanied by dysmorphic neurons. For drug resistant forms, current treatments rely on surgical removal of the dysmorphic tissue however, this fails to remedy the symptoms in 30-50% of cases and can result inunpredictable cognitive side effects. Moreover, etiologies and pathophysiological mechanisms underlying FCDs are poorly understood.
In this project, our overall objectiveis to undertake and integrate genomic, expression and epigenetic data with clinical, neuropsychological, electrophysiological and neuropathological data in order to better define potential genetic causes, including investigation of the extent of somatic mutations contribution, shed lights on cellular and tissue remodeling underlying FCDs, identify biomarkers and improve rational for diagnosis and therapeutic strategies.