Objetivo Cerebellar and brainstem congenital defects (CBCDs) are heterogeneous disorders with high pre-and post-natal mortality and morbidity. Their genetic basis and pathogenetic mechanisms are largely unknown, hampering patients’ diagnosis and management and family counselling. This project aims at improve current understanding of primary CBCDs through a multidisciplinary approach combining innovative clinical, neuroimaging, molecular and functional studies, that will be articulated in four workpackages:WP1- Clinical and neuroimaging studies: collection of detailed data and biological samples from a large cohort of patients covering a broad spectrum of CBCDs, neuroimaging classification based on magnetic resonance imaging and tractography, genotype-phenotype correlates and follow-up studies.WP2 - Molecular studies on mendelian CBCDs: high-throughput resequencing of ciliary genes to identify pathogenic mutations and genetic modifiers in patients with ciliopathies, identification of novel disease genes, mutation analysis of genes causative of other mendelian CBCDs.WP3 - Molecular studies on sporadic CBCDs: identification of cryptic chromosomal rearrangements by high resolution SNP-array analysis, selection and mutation analysis of candidate genes mapping to the rearranged regions.WP4 - Functional studies: optimisation of a novel neuroembryonic in vitro model derived from mouse embryonic stem cells, to test the role of known and candidate disease genes (from WP2 and 3) on cerebellar and brainstem development, define the pathways in which they are involved and the effect of disease-causative mutations.This project is expected to improve the current CBCD nosology, identify novel genes and mechanisms involved in cerebellar and brainstem development that are responsible for mendelian or sporadic defects, expand the available tools for pre- and post-natal diagnosis and identify clinical-genetic correlates and prognostic indexes. Ámbito científico social sciencessociologydemographymortalitymedical and health sciencesmedical biotechnologycells technologiesstem cellsnatural sciencesbiological sciencesgeneticsmutationmedical and health sciencesclinical medicineobstetricspostnatal careengineering and technologymedical engineeringdiagnostic imagingmagnetic resonance imaging Programa(s) FP7-IDEAS-ERC - Specific programme: "Ideas" implementing the Seventh Framework Programme of the European Community for research, technological development and demonstration activities (2007 to 2013) Tema(s) ERC-SG-LS7 - Applied life sciences, biotechnology and bioengineering: agricultural, animal, fishery, forestry/food sciences; biotechnology, chemical biology, genetic engineering, synthetic biology, industrial biosciences; environmental biotechnology. Convocatoria de propuestas ERC-2010-StG_20091118 Consulte otros proyectos de esta convocatoria Régimen de financiación ERC-SG - ERC Starting Grant Institución de acogida UNIVERSITA DEGLI STUDI DI PAVIA Aportación de la UE € 100 020,58 Dirección STRADA NUOVA 65 27100 Pavia Italia Ver en el mapa Región Nord-Ovest Lombardia Pavia Tipo de actividad Higher or Secondary Education Establishments Investigador principal Enza Maria Valente (Prof.) Contacto administrativo Sofia Baggini (Dr.) Enlaces Contactar con la organización Opens in new window Sitio web Opens in new window Coste total Sin datos Beneficiarios (3) Ordenar alfabéticamente Ordenar por aportación de la UE Ampliar todo Contraer todo UNIVERSITA DEGLI STUDI DI PAVIA Italia Aportación de la UE € 100 020,58 Dirección STRADA NUOVA 65 27100 Pavia Ver en el mapa Región Nord-Ovest Lombardia Pavia Tipo de actividad Higher or Secondary Education Establishments Investigador principal Enza Maria Valente (Prof.) Contacto administrativo Sofia Baggini (Dr.) Enlaces Contactar con la organización Opens in new window Sitio web Opens in new window Coste total Sin datos FONDAZIONE CASA SOLLIEVO DELLA SOFFERENZA La participación finalizó Italia Aportación de la UE € 717 435,67 Dirección VIALE CAPPUCCINI SC 71013 San Giovanni Rotondo Fg Ver en el mapa Región Sud Puglia Foggia Tipo de actividad Research Organisations Contacto administrativo Clara Ditroia (Dr.) Enlaces Contactar con la organización Opens in new window Sitio web Opens in new window Coste total Sin datos FONDAZIONE SANTA LUCIA Italia Aportación de la UE € 550 503,75 Dirección VIA ARDEATINA 306 00179 Roma Ver en el mapa Región Centro (IT) Lazio Roma Tipo de actividad Research Organisations Contacto administrativo Valentina Palma (Dr.) Enlaces Contactar con la organización Opens in new window Sitio web Opens in new window Coste total Sin datos