Hypertrophic cardiomyopathy (HCM) is the most common human inherited heart disease with a prevelance of 1:200 in the general population. The majority of the HCM patients carry mutations in genes that are important for beating of the heart. I am interested in a specific protein called TRIM55 that has been shown to be altered in HCM, but why it is causing HCM is still unknown.
Impact
To date, there is no curative treatment for Hypertrophic cardiomyopathy (HCM). Therefore, we mimic HCM in the lab by generating stem cell derived heart cells from patients and healthy individuals, called disease modelling. Our stem cell model helps us to better characterise the disease, as we can manipulate and treat the cells in culture. In combination with cutting-edge technologies, this allows us to unravel the underlying disease mechanism, ultimately aiming to develop curative therapies.
reNEW research
I am part of the Heart Regeneration and Disease Group at reNEW Melbourne that is led by Prof. Enzo Porello and A/Prof David Elliott. Our lab focusses on the heart and novel ways how to cure heart diseases. I generated a unique human stem cell model that allows us to study heart disease associated with TRIM55 in a dish, either in 2D or in a 3D cardiac organoid.
Image description
Stem cell derived heart cells with their characteristic striped pattern that its formed by its beating units, the sarcomeres, as well as the putative disease-causing protein TRIM55 in mint and nuclei in blue.
Credits
Dr Antonia Zech, David Elliott & Enzo Porello’s lab, MCRI,
