Objective 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. Fields of science social sciencessociologydemographymortalitymedical and health sciencesmedical biotechnologycells technologiesstem cellsnatural sciencesbiological sciencesgeneticsmutationmedical and health sciencesclinical medicineobstetricspostnatal careengineering and technologymedical engineeringdiagnostic imagingmagnetic resonance imaging Programme(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) Topic(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. Call for proposal ERC-2010-StG_20091118 See other projects for this call Funding Scheme ERC-SG - ERC Starting Grant Coordinator UNIVERSITA DEGLI STUDI DI PAVIA Address Strada nuova 65 27100 Pavia Italy See on map Region Nord-Ovest Lombardia Pavia Activity type Higher or Secondary Education Establishments Principal investigator Enza Maria Valente (Prof.) Administrative Contact Sofia Baggini (Dr.) Links Contact the organisation Opens in new window Website Opens in new window EU contribution No data Beneficiaries (3) Sort alphabetically Sort by EU Contribution Expand all Collapse all UNIVERSITA DEGLI STUDI DI PAVIA Italy EU contribution € 100 020,58 Address Strada nuova 65 27100 Pavia See on map Region Nord-Ovest Lombardia Pavia Activity type Higher or Secondary Education Establishments Principal investigator Enza Maria Valente (Prof.) Administrative Contact Sofia Baggini (Dr.) Links Contact the organisation Opens in new window Website Opens in new window Other funding No data FONDAZIONE CASA SOLLIEVO DELLA SOFFERENZA Participation ended Italy EU contribution € 717 435,67 Address Viale cappuccini sc 71013 San giovanni rotondo fg See on map Region Sud Puglia Foggia Activity type Research Organisations Administrative Contact Clara Ditroia (Dr.) Links Contact the organisation Opens in new window Website Opens in new window Other funding No data FONDAZIONE SANTA LUCIA Italy EU contribution € 550 503,75 Address Via ardeatina 306 00179 Roma See on map Region Centro (IT) Lazio Roma Activity type Research Organisations Administrative Contact Valentina Palma (Dr.) Links Contact the organisation Opens in new window Website Opens in new window Other funding No data
