Inherited dilated cardiomyopathies (DCM) are monogenic disorders caused by mutations in more than 30 genes, characterised by substantial phenotype heterogeneity. DCM affects 1:2.500 individuals and is the major cause of heart transplantation and death for non-ischaemic heart failure in adolescents and young adults. Currently, less than 1% of patients with familial DCM are genotyped in Europe. The INHERITANCE (INtegrated HEart Research In TrANslational genetics of dilated Cardiomyopathies in Europe) consortium propose to investigate over 2,000 existing DCM patients and their relatives in order to translate novel insights on the aetiology and pathophysiology of inherited cardiomyopathies into innovative disease specific diagnostic and treatment strategies. The consortium members share common clinical, scientific and ethical standards with respect to patient care and family screening, and have individual expertise in the clinical management and molecular genetics of inherited cardiomyopathies. The INHERITANCE strategy is to integrate genomic, proteomic, structural and functional studies exploring the molecular cascades arising from causative mutations with innovative clinical assessments in order to understand disease expression, evolution and to explore novel therapeutic strategies both in humans and in animal models. The immediate benefits will include preclinical and presymptomatic diagnosis, family-tailored clinical work-up, optimisation of existing treatment strategies and cost-effective use of medical resources. In the medium term, these studies will catalyse the development of new disease specific protocols, and will provide a model for the exploration of ground-breaking genetic and pharmacological therapies.
Field of science
- /natural sciences/biological sciences/molecular biology/molecular genetics
- /natural sciences/biological sciences/genetics and heredity/mutation
Call for proposal
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