Sudden cardiac death (SCD) is a major public health issue worldwide. Whereas overall death due to cardiovascular disease is decreasing, SCD remains a significant cause of mortality (Niemeijer, 2015). ACM represents 20% of the total cases of SCD and is the main cause of SCD in young adults (Romero et al., 2013), (Blazeski et al., 2019). As of today, a precise diagnosis is rather difficult, since clinical manifestations differ greatly between individuals and ethnicity (Romero et al., 2013), especially since the Task Force Criteria is based on a rather small cohort. Factors that influence in the lack of definitive diagnostics criteria are: ACM heterogeneity of the samples (positive and negative phenotypes, variable penetrance, environmental issues, interindividual variability, demographic variations, and, as all rare disorders, low statistical power due to the small number of cases. ncRNA have emerge in the cardiovascular area as potential biomarkers and treatment-guiders. Their biochemical properties allow to be detected in biofluids and in heart biopsies. The search of molecular biomarkers in body fluids such as peripheral blood and CSF have been pursued in the last years without success in their translation into the clinics. due to This is why we should undertake alternative approaches to retrieve useful biomarkers.
The aims of the project are: (1) to identify ncRNA (smallRNA, miRNA, circRNA and lncRNA) in heart biopsies of patients with SCD and genetically positive to ACM; (2) to verify the suitability of ncRNA as biomarkers for stratifying risk in ACM patient, both phenotypically positive and negative in order to reach translational research of this agressive cardiovascular disorders. (3) miRNA network selected would help to assess pathophysiological pathways related to this aggressive disease
Training and research environment
The “INC29” group is a multidisciplinary team composed by basic researchers and clinicians of diverse disciplines (cardiovascular surgeons and clinicians, genetists, internal medicine, biology) that belongs to the new Instituto de Investigación e Innovación Biomédica de Cádiz (INiBICA). This institute is dedicated to basic, translational and clinical research to improve population health thanks to the collaborative efforts between clinicians from the different hospitals of the area and the University of Cádiz.
The Postdoctoral fellow will be incorporated to the Research Unit of the Hospital Universitario Puerta del Mar to assess the ncRNA network related to ACM with heart biopsies belonged to genotype positive and phenotype negative and positive population.
This project will be supervised by Dr. Rocio Toro, PI of the “Arrhythmogenic cardiomyopathies and ncRNA net.
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