European Network on Brain Malformations
Among congenital brain disorders, malformations of cortical development (MCD) are a group of rare diseases, but constitute a major cause of chronic epilepsy and psychomotor disability worldwide. Little is known about the natural history and no curative therapy exists. The etiology is mainly genetic, and rarely environmental or multi-factorial, but diagnosis requires special expertise among neurodevelopmental disorders. The emergence of novel neuroimaging and genomic technologies potentially allows rapid and accurate characterisation and gene discovery, but challenges scientists and clinicians of efficiently interpreting and translating these data for the benefit of patients. In Europe, expertise on MCD is very fragmented and confined to personal interest of a few experts and basic scientists studying cortical development are not always connected with clinicians. This COST Action will, for the first time, bring together clinicians and researchers in the field of brain malformations, to create the interdisciplinary, pan-European Network Neuro-MIG, advancing the understanding of MCD pathophysiology and translating this knowledge to improve the diagnostic and clinical management of the patients. This Action will harmonise MCD classification, based on the advances in genetics and neuroimaging, develop guidelines for clinical management, create best practice diagnostic pathways, coordinate databases from different countries to utilize them for collective research initiatives aimed at developing appropriate therapies, identify common pathophysiological mechanisms through collaborations, educate young clinicians and scientists, and stimulate translational and transnational exchange. This Action will join forces of MCD experts to reduce health care costs and increase the quality of life of the affected individuals and their families.