INtegrated HEart Research In TrANslational genetics of dilated Cardiomyopathies in Europe.
INHERITANCE is a multidisciplinary, multi-centre research project designed to translate basic knowledge of the aetiology and pathophysiology of genetic dilated cardiomyopathies (DCM) into routine clinical practice and to identify novel therapeutic strategies.
INHERITANCE will use existing state of the art genotyping technologies in order to implement cost-effective protocols for rapid molecular diagnosis of specific forms of DCM.
These genetic data will be used to integrate novel clinical diagnostic algorithms employing advanced non-invasive imaging modalities with information derived from original genomic, transcriptomic, metabolomic, proteomic and functional studies in blood and heart tissue obtained from patients with genetic forms of DCM. The findings will be used to develop translational programmes for preclinical diagnosis, new treatment strategies, family-tailored clinical work-up and cost-effective use of medical resources across the EU.
Clinical characterisation of at least DCM (Dilated Cardiomyopathy) phenotypes associated with mutations of 35 known disease genes.
Implementation of diagnostic gene testing in DCM population.
Development and validation of a novel pre-genetic test based on measurement of RNA transcripts in patients with pre-specified mutations from peripheral blood.
Identification of novel predisposing disease genes and modifiers in humans by GWA and in animal models.
Identification of disease-specific metabolites that can be measured in serum or urine, and generation of the biochemical basis for production of laboratory kits.
Clarification of the pathophysiological mechanisms of myocardial damage and dysfunction in animal models and evaluation of old and novel treatments.
Structural characterisation and molecular simulation analyses on at least one mutated protein (LMNA).
Novel clinical approach with old drugs in patients with pre-clinical DCM.
Generation of a web-assisted database and of a Wiki-based collaborative system.
Development of new diagnostic and treatment guidelines for submission to European Society of Cardiology.
While achievement of each objective will represent a major advance in the diagnosis and treatment of DCMpatients, the overall aim of INHERITANCE is to integrate all the objectives into new international guidelines for genetic testing, clinical evaluation and disease specific protocols for DCM.
EC 7° Framework Programme - Health Research Project
INHERITANCE project will last 36 months, from 01/01/2010 to 31/12/2012