Phd in HUMAN BIOLOGY AND MEDICAL GENETICS

Research: Molecular Bases of Cardiomyopathies with Genetic Etiology

The research project focuses on studying the genetic basis of cardiomyopathies through whole-exome sequencing (WES) analyses performed on DNA extracted from peripheral blood or cardiac tissue of affected individuals. The main objective is to identify pathogenetic variants associated with the diverse phenotypic presentations of cardiomyopathy, with particular attention to cases that had previously tested negative in earlier genetic screening panels.
To date, the project has already yielded several significant results. The retrospective re-analysis of previously investigated samples—conducted using updated pipelines, expanded gene panels, and newly curated variant databases—has led to the identification of additional pathogenic or likely pathogenic variants in a subset of cases that had remained genetically unexplained. These findings have not only increased the overall diagnostic yield but also provided new insights into emerging genes implicated in cardiomyopathy. In several families, the integration of WES data with clinical and segregation analyses has enabled a more precise reclassification of variants of uncertain significance, improving genetic counseling and risk assessment for relatives.