Challenge:
Genetic diagnosis and management of brain malformations are challenging and expertise is fragmented. The consortium will bring together clinicians and researchers to create the first interdisciplinary pan-European Network, advancing the understanding of MCD pathophysiology and translating knowledge to improve the diagnostic and clinical management.
Research coordination Objectives:
- Facilitate and consolidate a European interdisciplinary network of clinicians, neurogeneticists, pathologists, molecular/cell biologists, and neuroscientists working on all aspects of MCD. Connection to nascent national expertise centres, international consortia and to European Reference Networks and patient organizations will be a priority.
- Standardised recording of phenotypes and disease classification. The Action will concentrate efforts on centralisation and accessibility of MCD patients data for diagnostic and research studies (imaging, genetics, and clinical outcome) from participating countries, though building a central database.
- Promote state of the art genotype-imaging phenotype correlation for rare MCD. Set up multidisciplinary MRI review panel including international partner countries experts, analyse patient data from shared database, develop standardised MCD-tailored imaging protocols and work flows for NGS and genomic variant interpretation, supporting also isolated clinicians in ITC and NNC.
- Deciphering of disease mechanisms underlying MCD and identification of novel research directions with the aim to develop targeted therapies. This aim will be pursued by preparing large scale international research projects where input from the different participating disciplines will be integrated.
Working Groups
Neuro-MIG is organised as a set of Working Groups each with a lead coordinator.