Linking human neuronal maturation and neurodevelopment diseases.

Neurodevelopment diseases such as intellectual disability and autism spectrum disorders remain difficult to treat because the underlying mechanisms remain largely unknown. However it has remained almost impossible to study experimentally these diseases in the human species at the neuronal level, given the relative inaccessibility of live human neuronal material. We have recently developed an innovative model of human neuronal development in vivo, following xenotransplantation in the mouse cerebral cortex. Here we will study two important neurodevelopment diseases of genetic origin using the same approach. Specifically we will test the hypothesis that the prolonged period of maturation that characterises human cortical neuron development is accelerated in these diseases, thereby revealing a novel mechanism that may make the human brain uniquely sensitive to developmental defects