SubsidieMeestersCardiogenomics meets Artificial Intelligence: a step forward in arrhythmogenic cardiomyopathy diagnosis and treatment
The project aims to integrate genomics, proteomics, and structural analyses to clarify genotype-phenotype relationships in arrhythmogenic cardiomyopathy, paving the way for novel therapies.
Projectdetails
Introduction
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.
Incidence and Impact
At present, ACM is uncurable; with an incidence of 1:5000, it can be considered a major cardiovascular disease (CVD). 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
- DSG2
Clinical Significance of Variants
However, many of the identified variants in these disease genes are still of uncertain clinical significance (VUS) and thus of limited clinical utility.
Project Aim
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. This will help establish the genotype/cardiac phenotype relationship, potentially leading to a better understanding of the role and impact of known genes and epigenetic factors (i.e., miRNAs) on susceptibility, clinical progression, and treatment of ACM.
Expected Outcomes
The project’s outcomes will pave the way towards novel therapies for ACM.
Financiële details & Tijdlijn
Financiële details
| Subsidiebedrag | € 3.740.868 |
| Totale projectbegroting | € 3.740.868 |
Tijdlijn
| Startdatum | 1-10-2023 |
| Einddatum | 30-9-2026 |
| Subsidiejaar | 2023 |
Partners & Locaties
Projectpartners
- UNIVERSITA DEGLI STUDI DI PADOVApenvoerder
- CONSORZIO ITALBIOTEC
- UNIVERSITEIT MAASTRICHT
- KSILINK
- ITALFARMACO SPA
- UNIVERSITAIR MEDISCH CENTRUM UTRECHT
- LUTECH SPA
Land(en)
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