My research focuses on the identification and characterisation of novel genes and mutations associated with inherited cardiac diseases such as hypertrophic and dilated cardiomyopathies.
The presence of a single DNA variant in a specific gene can be the leading cause of one of these cardiac conditions, presenting in the worst cases with a life threatening arrhythmia or sudden death.
Therefore, identifying pathogenic mutations in patients plays an important role: i) to confirm an early diagnosis; ii) to identify relatives at potential risk to develop the disease; iii) to understand the underlying cellular mechanism.
My current work looks at a novel disease gene, found to be highly mutated in patients compared to healthy controls. I carry out a combination of functional assays in order to determine the biological functions of the encoded protein and investigate pathological disturbances of its functions in the presence of genetic variants. I will use genome-edited induced pluripotent stem cell (iPSC) as a disease model.
My interest on disease mechanisms of cardiomyopathies started during my Ph.D. in Human Genetics completed in 2016 at the Cardiovascular Sciences Department in Padua (University of Padua, Italy), where I focused on the identification of new disease genes in familial and sporadic cases using different next generation sequences approaches.