Scope:
Cardiogenomics holds the potential to address existing gaps in the diagnosis and treatment of cardiovascular diseases (CVD), which would enable better outcome for the patient. Advanced genetic testing taking into account complex inheritance, or combining genetic testing, transcriptomics, proteomics and metabolomics analysis with clinical phenotype can improve clinical management of the CVD and identify more accurately, who is likely to be at risk for major cardiovascular events such as heart failure or sudden death. Many gene variants associated with CVD are of unknown significance and thus of limited clinical utility. Our ability to sub-classify CVD diseases according to their underlying molecular mechanism has been enhanced due to technological approaches such as, spatial or single-cell transcriptomics, and others.
There has been considerable funding in the past directed to support and improve the quality of life of patients with severe heart and other CVD conditions (e.g. development of bio-electronic implants/devices). On the other hand, there has been considerably less public funding allocated to demanding research targeted to the actual cause of major CVDs and their complex genetic basis and as a result, limited progress has been made in this front. Although, the complex genetic basis of some of the inherited cardiovascular conditions, such as, the cardiomyopathies is widely accepted, it remains far from being elucidated. In addition, already identified gene variants can demonstrate variable expressivity (clinical phenotype severity), challenging the clinical interpretation of the variants identified in a patient and the selection of the therapeutic tool. As per the major common diseases such as heart attack and atrial fibrillation, the genetic basis is incompletely understood.
Companies are therefore increasingly raising funding to support their preclinical CVD programs aimed to develop key molecules that can disrupt signalling pathways that regulate key cardiovascular processes including rhythm, hypertrophy, contractility, and autophagy and others, potentially leading to new therapies for heart failure or other CVD conditions. The overall aim of this Challenge is to pave the way for novel therapies for major CVD conditions including hemorrhagic and ischemic stroke, aneurysm, cardiomyopathy and certain types of arrhythmias and other conditions, for which no effective treatments are currently available.
The gender dimension in research content should be considered, where relevant.
Specific objectives
The following specific objectives have been identified for this Challenge:
Expected outcomes and impacts
The following major impacts can be foreseen for this Challenge:
Specific conditions
Applicants must convincingly demonstrate that they have access to a large cohort of genomic and/or transcriptomics and/or proteomics and/or metabolomics database from CVD patients.
For more details, see the EIC Work Programme 2022 and Challenge Guide for this topic (available on call opening).