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 projects 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.
CORDIS classifies projects with EuroSciVoc, a multilingual taxonomy of fields of science, through a semi-automatic process based on NLP techniques.
- natural sciencesbiological sciencesbiochemistrybiomoleculesproteinsproteomics
- natural sciencesbiological sciencesgeneticsmutation
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Keywords
Programme(s)
- HORIZON.3.1 - The European Innovation Council (EIC) Main Programme
Funding Scheme
HORIZON-EIC - HORIZON EIC GrantsCoordinator
35122 Padova
Italy