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Cardiac physiology and heart failure

Human genetics of cardiovascular disease

Human genetics of cardiovascular disease

We want to understand how genetic variation contributes to the risk of cardiovascular diseases so we can develop novel approaches to prevention, screening, counselling and treatment.

In recent years, genome-wide association studies of complex polygenic conditions and next-generation sequencing studies of Mendelian conditions have revolutionised our understanding of the roles genes play in many cardiovascular diseases.

We aim to develop a mechanistic understanding of these genetic findings. We also want to translate them into clinical applications, both in single-gene and complex genetic diseases.

We have internationally-leading expertise in the discovery of genetic variation contributing to the risk of complex cardiovascular disease, particularly hypertension and congenital heart disease.

Improving the diagnosis and management of disease

We collaborate with colleagues focusing on cardiac physiology and heart failure to conduct functional investigations of genetic loci shown to affect hypertension, congenital heart disease, heart rate, and the risk of developing atrial fibrillation.

We have successfully discovered new causes of single-gene conditions. We continue to study patients receiving care in our Inherited Cardiac Conditions Clinic to identify new genes. We are developing novel imaging biomarkers to improve the diagnosis and management of inherited heart muscle diseases.

Multi-omics approaches and the use of informatics are also enabling us to study large data sets to understand cardiovascular health and disease.

Clinically, our programme in ion channelopathies, cardiomyopathies and aortopathies focuses on the development and evaluation of appropriate management strategies in patients and their families.

Principal investigators