Obiettivo Autoimmune polyendocrine syndrome type I (APS I), a rare genetic disorder of childhood, has proven to be an invaluable tool in understanding autoimmune reactions. APS I (OMIM 240300), also known as APECED (autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy), is a severe autosomal recessive disorder caused by mutations in the Aire gene on chromosome 21. The disorder begins in early childhood and the patients gradually develop symptoms from autoimmune reactions in different endocrine and non-endocrine tissues and, in addition, mucocutaneous candidiasis, one of the hallmarks of the disease phenotype. APS I is characterized by autoantibodies against several defined autoantigens often identical to those found in more common autoimmune disorders such as type 1 diabetes mellitus and Addison's disease. The defective gene, Aire, has been identified and multiple mutations have been characterized. Aire-deficient mice, with the same genetic defect as the human disease, have been produced.The aim is to capitalize on the collected strengths and expertise of European investigators and establish a pan-European patient database and biobank. A further aim is to use a genome-wide approach to define the signalling pathways affected by the defective Aire molecule. Another aim is to maximize the human-mouse cross talk in our efforts to identify tissue specific autoantigens and immunological peptides of importance in patients and mice, and to determine their role in the disease pathogenesis. Our genomics-based approach will facilitate the identification of genes modulating the intensity and/or the course of autoimmune reactions as well as the cause of Candida albicans infection in APS I patients. This information will not only help patients with this rare disorder but will also increase our understanding of the pathogenesis of autoimmune diseases in general and could potentially lead to novel therapeutic strategies for treating common autoimmune disorders. Campo scientifico natural sciencesbiological sciencesbiochemistrybiomoleculesmedical and health sciencesclinical medicineendocrinologydiabetesmedical and health sciencesbasic medicineimmunologyautoimmune diseasesnatural sciencesbiological sciencesgeneticsmutationnatural sciencesbiological sciencesgeneticschromosomes Parole chiave APS APS IAPECED IAPECEDautoimmunity autoimmunity Programma(i) FP6-LIFESCIHEALTH - Life sciences, genomics and biotechnology for health: Thematic Priority 1 under the Focusing and Integrating Community Research programme 2002-2006. Argomento(i) LSH-2003-2.1.1-5 - Rare autoimmune disorders: from genes to individualised medicine Invito a presentare proposte FP6-2003-LIFESCIHEALTH-I Vedi altri progetti per questo bando Meccanismo di finanziamento STREP - Specific Targeted Research Project Coordinatore UPPSALA UNIVERSITY Contributo UE Nessun dato Indirizzo Sankt olofsgatan 10 b Uppsala Svezia Mostra sulla mappa Collegamenti Sito web Opens in new window Costo totale Nessun dato Partecipanti (16) Classifica in ordine alfabetico Classifica per Contributo UE Espandi tutto Riduci tutto UNIVERSITY OF PADOVA Italia Contributo UE Nessun dato Indirizzo Via 8 febbraio, 2 Padova Mostra sulla mappa Collegamenti Sito web Opens in new window Costo totale Nessun dato ROYAL COLLEGE OF SURGEONS IN IRELAND Irlanda Contributo UE Nessun dato Indirizzo 123 st. stephens green Dublin 2 Mostra sulla mappa Collegamenti Sito web Opens in new window Costo totale Nessun dato THE CHANCELLOR, MASTERS AND SCHOLARS OF THE UNIVERSITY OF OXFORD Regno Unito Contributo UE Nessun dato Indirizzo University offices, wellington square Oxford Mostra sulla mappa Collegamenti Sito web Opens in new window Costo totale Nessun dato THE AUSTRALIAN NATIONAL UNIVERSITY Australia Contributo UE Nessun dato Indirizzo Building 54, mills road, acton Canberra Mostra sulla mappa Collegamenti Sito web Opens in new window Costo totale Nessun dato LUNDS UNIVERSITET Svezia Contributo UE Nessun dato Indirizzo Paradisgatan 5c Lund Mostra sulla mappa Collegamenti Sito web Opens in new window Costo totale Nessun dato UNIVERSITETET I BERGEN Norvegia Contributo UE Nessun dato Indirizzo Muséplass 1 Bergen Mostra sulla mappa Collegamenti Sito web Opens in new window Costo totale Nessun dato MEDIZINISCHE HOCHSCHULE HANNOVER Germania Contributo UE Nessun dato Indirizzo Carl-neuberg str. 1 Hannover Mostra sulla mappa Collegamenti Sito web Opens in new window Costo totale Nessun dato NATIONAL PUBLIC HEALTH INSTITUTE Finlandia Contributo UE Nessun dato Indirizzo Mannerheimintie 166 Helsinki Mostra sulla mappa Collegamenti Sito web Opens in new window Costo totale Nessun dato UNIVERSITY OF TARTU Estonia Contributo UE Nessun dato Indirizzo Ulikooli 18 Tartu Mostra sulla mappa Collegamenti Sito web Opens in new window Costo totale Nessun dato UNIVERSITY OF PERUGIA Italia Contributo UE Nessun dato Indirizzo Piazza dell´ università Perugia Mostra sulla mappa Collegamenti Sito web Opens in new window Costo totale Nessun dato UNIVERSITY OF HONG KONG Cina Contributo UE Nessun dato Indirizzo 34 hospital road Hong kong sar Mostra sulla mappa Collegamenti Sito web Opens in new window Costo totale Nessun dato UNIVERSITY OF SHEFFIELD Regno Unito Contributo UE Nessun dato Indirizzo Western bank Sheffield Mostra sulla mappa Collegamenti Sito web Opens in new window Costo totale Nessun dato UNIVERSITY OF CAGLIARI Italia Contributo UE Nessun dato Indirizzo Via univerità 40 Cagliari Mostra sulla mappa Collegamenti Sito web Opens in new window Costo totale Nessun dato THE WALTER AND ELIZA HALL INSTITUTE OF MEDICAL RESEARCH Australia Contributo UE Nessun dato Indirizzo 1 g royal parade Parkville, victoria Mostra sulla mappa Collegamenti Sito web Opens in new window Costo totale Nessun dato NATIONAL UNIVERSITY OF IRELAND, DUBLIN, UNIVERSITY COLLEGE DUBLIN Irlanda Contributo UE Nessun dato Indirizzo Belfield Dublin Mostra sulla mappa Collegamenti Sito web Opens in new window Costo totale Nessun dato UNIVERSITÄT BASEL Svizzera Contributo UE Nessun dato Indirizzo Petersgraben 35 Basel Mostra sulla mappa Collegamenti Sito web Opens in new window Costo totale Nessun dato