Carlos Cardoso Molecular basis and pathophysiology of cortical development disorders

Course and current status

Present academic position
INSERM Research Director (Tenured) and Team leader at the Institut de Neurobiologie de la Méditerranée
(INMED), INSERM Unit 901, Campus de Luminy, 13009 Marseille, France

2012 Habilitation to Direct Research (HDR). Aix-Marseille University, France.
1999 PhD in Human Genetics and Neurobiology. University de la Méditerranée, Marseille,

Career Path
2014- Research Director (DR2) - Tenure Permanent Position at INSERM, INMED, Marseille, France.
2012- Team Leader, INMED, Marseille, France.
2006-12 Principal investigator (CR1). Tenure Permanent Position at INSERM, INMED, Marseille, France
2002-05 INSERM Young Researcher Tenure Track position (CR2), Medical School of la Timone, Marseille, France.
2000-01 Post doctoral Katz Fellow, Dept. of Human Genetics, University of Chicago, USA.
1996-99 Phd Student – MRT Fellowship, INSERM U491, Marseille, France.

Scientific summary

Our general aim is to investigate the pathophysiological mechanisms of malformations of cortical development (MCDs). MCDs correspond to either macroscopic (e.g. subcortical band heterotopia) or microscopic abnormalities of the cerebral cortex that arise as a consequence of an interruption to the normal steps of formation of the cortical network. Indeed, normal cortical development requires a very precise and orchestrated mobilisation of various neuron subtypes arising from different regions of the brain, and born at various times, in order to achieve specific laminar positioning and connections with other cells. Until the availability of magnetic resonance imaging, MCDs were thought to be extremely rare disorders. It is now recognized that MCDs are a significant cause of epilepsy (20-40% of drug-resistant childhood epilepsies) and intellectual disability (ID), with most patients presenting in childhood. MCDs may be a result of genetic mutations and/or environmental causes such as in utero infection or ischemia. Mutations of many genes linked to several pathways known to regulate neuronal migration and maturation have been recently described in MCD patients, but the physiopathological mechanisms are poorly understood. Our goal is not only to increase our knowledge on genetically determined MCDs, but also to develop more effective therapeutic strategies for treating seizures and other MCDs based on the comprehension of the pathophysiological mechanisms. For this purpose, we conduct integrated multidisciplinary studies involving morphologists, molecular biologists and electrophysiologists. We have also established national and international collaborations with clinicians and geneticists (through the European consortium “DESIRE”, the EPINEXT”–DHU Aix-Marseille University network and the “DECIPHER”-EraNet Neuron funded project) providing us with a transversal appreciation of our researches.

Image d’exemple