Connie Bezzina

PI
Specialization

Genetics of cardiac disorders

Focus of research

Our group conducts translational research aimed at identifiying genetic risk factors underlying cardiac disorders. Our research focuses on:

- Inherited disorders associated with increased risk of sudden cardiac death in young individuals. This includes the primary electrical disorders (e.g. the Long QT Syndrome, cardiac conduction disease and Brugada Syndrome) and the cardiomyopathies (e.g. hypertrophic cardiomyopathy).

- Risk of sudden cardiac death in the setting of acquired cardiac disease, namely ventricular fibrillation in the setting of acute myocardial ischemia or infarction.

- Congenital heart disease.

 

Besides efforts related to gene discovery, we also conduct functional studies in experimental model systems (e.g., transgenic mice, cardiomyocytes derived from induced pluripotent stem cells) on newly-identified genes or mutations. This allows us to gain insight into the involvement of the given gene or mutation into the pathophysiological mechanism underlying the diseases.

 

In our research we use amongst others the following tools:

Exome sequencing

Genomewide association studies

Expression QTL studies

Transgenesis

Electrophysiological studies (e.g. patch-clamp, optical mapping)