Cel 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. Dziedzina nauki social sciencessociologydemographymortalitymedical and health sciencesmedical biotechnologycells technologiesstem cellsnatural sciencesbiological sciencesgeneticsmutationmedical and health sciencesclinical medicineobstetricspostnatal careengineering and technologymedical engineeringdiagnostic imagingmagnetic resonance imaging Program(-y) 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) Temat(-y) 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. Zaproszenie do składania wniosków ERC-2010-StG_20091118 Zobacz inne projekty w ramach tego zaproszenia System finansowania ERC-SG - ERC Starting Grant Instytucja przyjmująca UNIVERSITA DEGLI STUDI DI PAVIA Wkład UE € 100 020,58 Adres STRADA NUOVA 65 27100 Pavia Włochy Zobacz na mapie Region Nord-Ovest Lombardia Pavia Rodzaj działalności Higher or Secondary Education Establishments Kierownik naukowy Enza Maria Valente (Prof.) Kontakt administracyjny Sofia Baggini (Dr.) Linki Kontakt z organizacją Opens in new window Strona internetowa Opens in new window Koszt całkowity Brak danych Beneficjenci (3) Sortuj alfabetycznie Sortuj według wkładu UE Rozwiń wszystko Zwiń wszystko UNIVERSITA DEGLI STUDI DI PAVIA Włochy Wkład UE € 100 020,58 Adres STRADA NUOVA 65 27100 Pavia Zobacz na mapie Region Nord-Ovest Lombardia Pavia Rodzaj działalności Higher or Secondary Education Establishments Kierownik naukowy Enza Maria Valente (Prof.) Kontakt administracyjny Sofia Baggini (Dr.) Linki Kontakt z organizacją Opens in new window Strona internetowa Opens in new window Koszt całkowity Brak danych FONDAZIONE CASA SOLLIEVO DELLA SOFFERENZA Zakończenie uczestnictwa Włochy Wkład UE € 717 435,67 Adres VIALE CAPPUCCINI SC 71013 San Giovanni Rotondo Fg Zobacz na mapie Region Sud Puglia Foggia Rodzaj działalności Research Organisations Kontakt administracyjny Clara Ditroia (Dr.) Linki Kontakt z organizacją Opens in new window Strona internetowa Opens in new window Koszt całkowity Brak danych FONDAZIONE SANTA LUCIA Włochy Wkład UE € 550 503,75 Adres VIA ARDEATINA 306 00179 Roma Zobacz na mapie Region Centro (IT) Lazio Roma Rodzaj działalności Research Organisations Kontakt administracyjny Valentina Palma (Dr.) Linki Kontakt z organizacją Opens in new window Strona internetowa Opens in new window Koszt całkowity Brak danych
