COFUND-ERANET E-RARE 3-HETER-OMICS-2
Grant no: 88 ⁄ 2019
Project coordinator: “Victor Babes” National Institute of Pathology
Title: Multi-OMICS interrogation of cerebral cortical malformations
Team: Aurora Arghir, PhD; Sorina Mihaela Papuc, PhD; Maria Dobre, PhD; Alina Erbescu.
Heterotopia represents neuron mis-positioning within the cerebral cortex. These are a set of rare developmental disorders which lead to severe epilepsy and intellectual disability. These disorders may form a spectrum ranging from abnormal neuron clusters at the cerebral ventricles (periventricular), to heterotopias embedded in the white matter (subcortical). To investigate the specific and converging pathways underlying these disorders, it is critical to understand the abnormally functioning cell types and their developmental trajectories, as well as characterize functional endpoints. Furthermore, gathering clinical and molecular data from previously uncharacterized patients adds an important clinical perspective. Our aims are to identify the clinical and genetic features of a cohort of children with heterotopia. This project will allow multi-dimensional data integration, aiding the identification of new variants / candidate genes and potential drug targets. Families will benefit from improved stratification and genetic investigations.
Comprehensive genetic characterization of a new cohort of heterotopia patients and correlation with clinical data and bioimaging