More information about this project, the principal investigator and the research team on http://rgrg.vub.ac.be/NEGE.php
The development of the cerebral cortex is extremely complex but can nevertheless be divided into different, partly overlapping stages. Interference with one or more of these processes by genetic or external factors may result in malformations of cortical development (MCD). The most prevalent MCDs include lissencephaly/subcortical band heterotopia, polymicrogyria, periventricular heterotopia and focal cortical dysplasia. MCDs are an important cause of mental and motor impairment, severe epilepsy, learning disorders, and autism. Patients require a lifelong multidisciplinary follow-up and treatment is restricted to symptom relief. Most MCD have a genetic etiology but there is extensive heterogeneity both with respect to genotypes and phenotypes. For the large majority of patients with MCDs, the exact etiology of their disorder is still unknown, leaving a considerable number of families not having access to counseling or prenatal diagnosis in order to prevent recurrence.
This project aims at the further identification of genes involved in the regulation of neuronal migration and the study of the functional consequences of mutations in these genes by combining patient-driven molecular genetic studies and comparative genetic research in zebrafish models. This will result in mapping of major pathways involved in cortical development and function.
The project is performed in collaboration with the research groups of Prof. Peter De Witte (Laboratory for Pharmaceutical Biology, KUL - zebrafish models), Peter De Jonghe (VIB Department of Molecular Genetics, UA - NGS), and Ilse Smolders (Center for Neurosciences, VUB - mouse models).<top>