Project description
Unravelling the mysteries of ACM, paving the way for new therapies
Arrhythmogenic cardiomyopathy (ACM) is a devastating genetic disease that causes progressive loss of heart muscle cells, leading to ventricular arrhythmias and sudden cardiac death, particularly among the young and athletes. With an incidence of 1 in 5 000, ACM remains incurable, and many identified gene variants are of uncertain clinical significance. In this context, the EIC-funded IMPACT project will use artificial intelligence to merge clinical data with large-scale genomics, proteomics, and instrumental analysis, further integrating in vitro and in vivo models. This ambitious initiative aims to unravel the genotype-cardiac phenotype relationship, shedding light on the impact of known genes and epigenetic factors on ACM susceptibility, progression, and treatment. The project's outcomes hold immense potential for shaping new therapeutic approaches for ACM.
Objective
Arrhythmogenic cardiomyopathy (ACM) is a genetic disease characterized by progressive cardiomyocyte loss and fibrofatty replacement, which in turn lead to the occurrence of ventricular arrhythmias and sudden cardiac death (SCD), particularly in the young and athletes. At present, ACM is uncurable; with an incidence of 1:5000, it can be considered a major CVD disease. The subform involving only the right ventricle is the most common; the majority of its causative mutations are identified in just three desmosomal genes: PKP2, DSP, and DSG2. However, many of the identified variants in these disease genes are still of uncertain clinical significance (VUS) and thus of limited clinical utility. The overall aim of the project is to combine large-scale data from genomics, proteomics and instrumental analysis obtained from patients with data from structural and functional analyses of in vitro (3D microtissue) and in vivo (murine) models, to establish the genotype/cardiac phenotype relationship, potentially leading to a better understanding of the role and impact of known genes and epigenetic factors (ie, miRNAs) on susceptibility, clinical progression, and treatment of ACM.
The project’s outcomes will pave the way towards novel therapies for ACM.
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: The European Science Vocabulary.
CORDIS classifies projects with EuroSciVoc, a multilingual taxonomy of fields of science, through a semi-automatic process based on NLP techniques. See: The European Science Vocabulary.
- medical and health sciences clinical medicine cardiology cardiovascular diseases cardiac arrhythmia
- natural sciences biological sciences biochemistry biomolecules proteins proteomics
- natural sciences biological sciences genetics mutation
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Keywords
Project’s keywords as indicated by the project coordinator. Not to be confused with the EuroSciVoc taxonomy (Fields of science)
Project’s keywords as indicated by the project coordinator. Not to be confused with the EuroSciVoc taxonomy (Fields of science)
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.
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HORIZON.3.1 - The European Innovation Council (EIC)
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Topic(s)
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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.
Funding Scheme
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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.
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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.
(opens in new window) HORIZON-EIC-2022-PATHFINDERCHALLENGES-01
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Net EU financial contribution. The sum of money that the participant receives, deducted by the EU contribution to its linked third party. It considers the distribution of the EU financial contribution between direct beneficiaries of the project and other types of participants, like third-party participants.
35122 PADOVA
Italy
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.