Objetivo This proposal seeks to utilize single molecule optical detection to directly visualize and analyze genome structural and copy number variation (SVs & CNVs) spanning up to hundreds kb of native chromosomal DNA . The project focuses on a pathogenic macro satellite repeat in the subtelomere of chromosome 4q that is linked to the third most common inherited muscular dystrophy, Facioscapulohumeral muscular dystrophy (FSHD). Specific sequences on subtelomeres are labeled with fluorescent molecules via enzymatic reactions to create a unique, chromosome specific fluorescence pattern. The DNA is then stretched in thousands of parallel nanochannels by electrophoresis and imaged on a fluorescence microscope. The resulting patterns along the DNA backbone are compared to a reference map computed from the known genome sequence and variations from the reference are classified and characterized. Specifically, we will be able to count the exact number of repeat blocks in pathogenic vs. non-pathogenic chromosomes. The immediate outcome of this project is a powerful diagnostic tool for FSHD and a proof of principle for single molecule, high throughput structural variation analysis on a genomic scale. Ámbito científico medical and health sciencesbasic medicineneurologymuscular dystrophiesnatural sciencesbiological sciencesgeneticsDNAnatural sciencesphysical sciencesopticsmicroscopynatural sciencesbiological sciencesgeneticschromosomesnatural sciencesbiological sciencesgeneticsgenomes Programa(s) FP7-PEOPLE - Specific programme "People" implementing the Seventh Framework Programme of the European Community for research, technological development and demonstration activities (2007 to 2013) Tema(s) FP7-PEOPLE-2012-CIG - Marie-Curie Action: "Career Integration Grants" Convocatoria de propuestas FP7-PEOPLE-2012-CIG Consulte otros proyectos de esta convocatoria Régimen de financiación MC-CIG - Support for training and career development of researcher (CIG) Coordinador TEL AVIV UNIVERSITY Aportación de la UE € 100 000,00 Dirección RAMAT AVIV 69978 Tel Aviv Israel Ver en el mapa Tipo de actividad Higher or Secondary Education Establishments Contacto administrativo Lea Pais (Ms.) Enlaces Contactar con la organización Opens in new window Sitio web Opens in new window Coste total Sin datos
