Objectif The ultimate relevance of a component of the innate immune system in human physiology is uncovered by the consequence of mutations in the associated gene. We have integrated systems genomics tools to mine, uncover and pathway-map primary deficiencies with high efficiency. Primary immunodeficiency disorders involving innate immunity are characterized by recurrent and life-threatening infections. ImmunoCore profits from an exquisite combination of access to a large collection of informative pedigrees, high throughput genetics/genomics such as high-resolution SNP arrays and deep sequencing as well as functional proteomics of protein complexes. This discovery engine is complemented by biochemical, immunological and imaging technologies to obtain molecular gene-to-phenotype relationships for potentially dozens of components. The initial focus of the work will be on phagocyte deficiencies such as congenital neutropenia syndromes, for which we have very recently identified two novel genetic defects.The proposed investigations are expected to contribute significantly to our understanding of the molecular processes that structure our innate immune system. These studies will not only enable a more comprehensive molecular classification system of primary immunodeficiency disorders, but also improve patient care by enabling molecular diagnosis and classification. Our investigations may serve as the basis for future development of more specific therapies targeting affected signaling cascades. Champ scientifique natural sciencesbiological sciencesbiochemistrybiomoleculesproteinsproteomicsmedical and health sciencesbasic medicineimmunologynatural sciencesbiological sciencesgeneticsmutationmedical and health sciencesbasic medicinephysiology 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) Thème(s) ERC-SG-LS6 - ERC Starting Grant - Immunity and infection Appel à propositions ERC-2012-StG_20111109 Voir d’autres projets de cet appel Régime de financement ERC-SG - ERC Starting Grant Institution d’accueil CEMM - FORSCHUNGSZENTRUM FUER MOLEKULARE MEDIZIN GMBH Contribution de l’UE € 1 498 950,00 Adresse LAZARETTGASSE 14 AKH BT 25.3 1090 Wien Autriche Voir sur la carte Région Ostösterreich Wien Wien Type d’activité Private for-profit entities (excluding Higher or Secondary Education Establishments) Contact administratif Sigrid Strodl (Mrs.) Chercheur principal Kaan Boztug (Dr.) Liens Contacter l’organisation Opens in new window Site web Opens in new window Coût total Aucune donnée Bénéficiaires (1) Trier par ordre alphabétique Trier par contribution de l’UE Tout développer Tout réduire CEMM - FORSCHUNGSZENTRUM FUER MOLEKULARE MEDIZIN GMBH Autriche Contribution de l’UE € 1 498 950,00 Adresse LAZARETTGASSE 14 AKH BT 25.3 1090 Wien Voir sur la carte Région Ostösterreich Wien Wien Type d’activité Private for-profit entities (excluding Higher or Secondary Education Establishments) Contact administratif Sigrid Strodl (Mrs.) Chercheur principal Kaan Boztug (Dr.) Liens Contacter l’organisation Opens in new window Site web Opens in new window Coût total Aucune donnée
