Hypertrophic cardiomyopathy (HCM) is the most common human inherited heart disease that affects 1 in 200 people. The majority of the HCM patients carry mutations in genes that are important for the heart beating These faulty genes are translated into proteins that form the sarcomere, the beating unit of the heart, and are known to be different in HCM. However, it is still unknown how a “wrong” protein leads to HCM on a cellular level.
Impact
There is no curative treatment for 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 understand the disease, as we can manipulate and treat the cells in culture. To validate how “good’ we model the disease in the dish, we use human heart tissue as gold standard. My goal is it to unravel the underlying mechanisms leading to HCM, ultimately aiming to develop curative therapies.
reNEW research
Our lab focusses on the heart and novel ways how to cure heart diseases. I generated human stem cell models that allow us to study heart disease in a dish, either in 2D cardiac monolayer or in a 3D cardiac organoid.
Image description
Human healthy heart tissue of the right ventricle with its characteristic striped pattern that is formed by its beating units, the sarcomeres (Cyan – Alpha-Actinin 2, pink – Titin) as well as nuclei in purple.
Credits
Dr Antonia Zech, Research Officer, Elliott & Porello Labs, reNEW Melbourne.
