Familial Hypercholesterolemia (FH) is a genetic condition that causes high cholesterol levels. In about 90% of cases, this happens because of changes in a gene called LDLR, which affects how the body clears “bad” cholesterol (LDL) from the blood. Normally, the LDLR protein acts like a tiny catcher, grabbing LDL and pulling it into liver cells, where it can be broken down and used for energy. But when the LDLR protein doesn’t work properly, LDL stays in the blood, increasing the risk of heart disease.

Our Molecular Therapy Laboratory at the Personalised Medicine Centre is focused on fixing this problem at the genetic level. We are developing personalised medicines that help restore LDLR function. We are using a cutting-edge approach involving “gene patches”—small genetic tools called antisense oligonucleotides. These act like a molecular “white-out,” masking the faulty part of the gene so the body can still produce a working version of the LDLR protein. By boosting LDLR activity, we hope to improve cholesterol clearance and reduce the risk of heart disease for people with FH.

This approach is of particular importance for people with homozygous FH who have two changes in the gene resulting in high LDL levels at a young age. To learn more about our research and how we are working towards new treatments, or to get in touch visit https://www.murdoch.edu.au/research/hfi/our-centres/personalised-medicine-centre/molecular-therapy-laboratory/