Dr Dirk Paul

Functional genomics of cardiovascular diseases

Our mission is to identify and characterise causal biological pathways in cardiovascular disease.

Population-scale genomic analyses have transformed our understanding of the contribution of genetic variation to the risk of cardiovascular disease, the leading cause of death worldwide. However, a major challenge in unlocking the potential of these genomic studies is in uncovering the molecular chain of events from genetic variation to clinical events.

To tackle this challenge, we combine systematic computational and experimental approaches to translate the genetic associations into causal biology. We apply cutting-edge technology to elucidate the molecular, cellular and physiological underpinnings of candidate causal variants and genes, including CRISPR/Cas9 genome editing in cellular models and recall-by-genotype mechanistic studies in healthy volunteers.

Our work, which integrates genetic epidemiology, functional genomics/epigenomics and clinical medicine, enables a better understanding of the aetiology of cardiovascular disease and informs the development of new therapeutics.