Objective
Hypertrophic cardiomyopathy (HCM), characterised by left ventricular hypertrophy and myocyte disarray, is by far the most common cardiac single gene disorder. With a prevalence of 1:500, HCM is predicted to affect approximately one million people within the EU. HCM represents an important clinical problem, being the principal cause of sudden death in young adults, and a valuable opportunity to use human genetics to dissect mechanisms of cardiac hypertrophy and heart failure. It was the first inherited heart disease to be characterised at the molecular genetic level, with the demonstration that it is caused by mutations in genes that encode different components of the cardiac contractile apparatus. Existing in vitro and mouse model studies have suggested that HCM mutations enhance contractility and impair relaxation. We have hypothesised that these changes may result in energetic compromise, due to inefficient ATP utilisation, and also in altered Ca2+ handling. If validated in the human heart, these hypotheses would identify tractable therapeutic targets that suggest that HCM, perhaps more than any other cardiomyopathy, will be amenable to disease modifying therapy. However, analysis of the altered functional characteristics of affected human tissue has so far lagged behind the in vitro and mouse studies. In this project, we aim: (i) to collect and genotype a large collection of both affected HCM and appropriate control human myocardium and to measure the differences in protein expression, contractility, protein phosphorylation and sarcomeric structure between normal and affected samples; (ii) to test therapeutic strategies in our existing mouse models; (iii) to employ patient-based studies to test specific interventions based on existing hypotheses. This will provide a broad multidisciplinary approach to gain further understanding HCM and to yield new directions for therapeutic strategies.
Fields of science (EuroSciVoc)
CORDIS classifies projects with EuroSciVoc, a multilingual taxonomy of fields of science, through a semi-automatic process based on NLP techniques. See: https://op.europa.eu/en/web/eu-vocabularies/euroscivoc.
CORDIS classifies projects with EuroSciVoc, a multilingual taxonomy of fields of science, through a semi-automatic process based on NLP techniques. See: https://op.europa.eu/en/web/eu-vocabularies/euroscivoc.
- natural sciences biological sciences biochemistry biomolecules proteins
- natural sciences biological sciences genetics mutation
- medical and health sciences clinical medicine cardiology
- medical and health sciences basic medicine medical genetics
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Programme(s)
Multi-annual funding programmes that define the EU’s priorities for research and innovation.
Multi-annual funding programmes that define the EU’s priorities for research and innovation.
Topic(s)
Calls for proposals are divided into topics. A topic defines a specific subject or area for which applicants can submit proposals. The description of a topic comprises its specific scope and the expected impact of the funded project.
Calls for proposals are divided into topics. A topic defines a specific subject or area for which applicants can submit proposals. The description of a topic comprises its specific scope and the expected impact of the funded project.
Call for proposal
Procedure for inviting applicants to submit project proposals, with the aim of receiving EU funding.
Procedure for inviting applicants to submit project proposals, with the aim of receiving EU funding.
FP7-HEALTH-2009-single-stage
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Funding Scheme
Funding scheme (or “Type of Action”) inside a programme with common features. It specifies: the scope of what is funded; the reimbursement rate; specific evaluation criteria to qualify for funding; and the use of simplified forms of costs like lump sums.
Funding scheme (or “Type of Action”) inside a programme with common features. It specifies: the scope of what is funded; the reimbursement rate; specific evaluation criteria to qualify for funding; and the use of simplified forms of costs like lump sums.
Coordinator
OX1 2JD Oxford
United Kingdom
The total costs incurred by this organisation to participate in the project, including direct and indirect costs. This amount is a subset of the overall project budget.