Objetivo Our genetic material is continually subjected to damage, either from endogenous sources such as reactive oxygen species produced as by-products of oxidative metabolism, from the breakdown of replication forks during cell growth, or by agents in the environment such as ionising radiation or carcinogenic chemicals. To cope with DNA damage, cells employ elaborate and effective repair processes that specifically recognise a wide variety of lesions in DNA. These repair systems are essential for the maintenance of genome integrity. Unfortunately, some individuals are genetically predisposed to crippling diseases or cancers that are the direct result of mutations in genes involved in the DNA damage response. For several years our work has been at the forefront of basic biological research in the area of DNA repair, and in particular we have made significant contributions to the understanding of inheritable diseases such as breast cancer, Fanconi anemia, and the neurodegenerative disease Ataxia with Oculomotor Apraxia-1 (AOA-1). The focus of this ERC proposal is: (i) to define the phenotypic interplay between three inheritable cancer predisposition syndromes, Fanconi anemia, Bloom s syndrome and breast cancers caused by mutation of BRCA2, (ii) to determine the biological role of the newly discovered GEN1 Holliday junction resolvase in homologous recombination and repair, and (iii) to understand the actions of Aprataxin and Senataxin in relation to the inheritable neurodegenerative diseases AOA-1 and AOA-2, respectively. Our studies will provide an improved understanding of basic mechanisms of DNA repair and thereby underpin future therapeutic developments that will help individuals afflicted with these diseases. Ámbito científico natural sciencesbiological sciencesgeneticsDNAmedical and health sciencesclinical medicineoncologybreast cancernatural sciencesbiological sciencesgeneticsmutationmedical and health sciencesclinical medicinehematologynatural sciencesbiological sciencesgeneticsgenomes 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-AG-LS1 - ERC Advanced Grant - Molecular and Structural Biology and Biochemistry Convocatoria de propuestas ERC-2009-AdG Consulte otros proyectos de esta convocatoria Régimen de financiación ERC-AG - ERC Advanced Grant Institución de acogida THE FRANCIS CRICK INSTITUTE LIMITED Aportación de la UE € 2 449 091,40 Dirección 1 MIDLAND ROAD NW1 1AT London Reino Unido Ver en el mapa Región London Inner London — West Camden and City of London Tipo de actividad Research Organisations Contacto administrativo Heather Joanne Woods (Ms.) Investigador principal Stephen West (Dr.) Enlaces Contactar con la organización Opens in new window Sitio web Opens in new window Coste total Sin datos Beneficiarios (2) Ordenar alfabéticamente Ordenar por aportación de la UE Ampliar todo Contraer todo THE FRANCIS CRICK INSTITUTE LIMITED Reino Unido Aportación de la UE € 2 449 091,40 Dirección 1 MIDLAND ROAD NW1 1AT London Ver en el mapa Región London Inner London — West Camden and City of London Tipo de actividad Research Organisations Contacto administrativo Heather Joanne Woods (Ms.) Investigador principal Stephen West (Dr.) Enlaces Contactar con la organización Opens in new window Sitio web Opens in new window Coste total Sin datos CANCER RESEARCH UK LBG La participación finalizó Reino Unido Aportación de la UE Sin datos Dirección 2 Redman Place E20 1JQ LONDON Ver en el mapa Región London Inner London — West Camden and City of London Tipo de actividad Research Organisations Contacto administrativo Holly Elphinstone (Ms.) Enlaces Contactar con la organización Opens in new window Sitio web Opens in new window Coste total Sin datos
