Familial Hypercholesterolaemia

Familial hypercholesterolaemia (FH) is a genetic condition causing high cholesterol levels from birth, which can lead to cardiovascular complications. While diet and medication help manage the condition, outcomes vary considerably between individuals — and genetics plays a significant role in determining these differences.

Approach

We develop integrative polygenic scoring approaches that combine multiple layers of genetic and genomic information. By incorporating gene regulatory data alongside traditional variant-level information, we aim to better capture the full genetic architecture underlying cardiovascular risk in FH.

Goals

• Develop improved polygenic scores for predicting cardiac outcomes in FH patients
• Understand the regulatory mechanisms linking cholesterol genetics to cardiovascular risk
• Identify individuals at highest risk who may benefit most from early intervention

Funding

This project has been funded by a ZonMW Veni grant