BHF Professor Bernard Keavney’s research focuses on how differences in the genes we inherit from our parents increase our risk of heart and circulatory diseases.
Congenital heart disease
Heart defects affect around seven in every 1,000 liveborn babies. Often they are life-threatening and require complex surgery.
Congenital heart disease runs in families, but the picture is complex. The culprit genes and how they interact with factors during early pregnancy - when the heart is formed - are unknown.
With our support, Professor Keavney’s team have conducted one of the world’s largest studies of families affected by congenital heart disease. They are now using the latest technology to screen these volunteers to find possible genetic causes of disease.
Knowledge gained from this study may enable us to devise ways to reduce the frequency of congenital heart disease. It might help provide better advice and counselling to high-risk families, and in the long-term lead to more effective treatments.
We are also funding Dr Lyle Armstrong and his team to get skin samples from babies with a congenital condition called hypoplastic left-heart syndrome, using a pioneering technique to transform the babies’ skin cells into heart cells.
Ageing and disease
In later life, high blood pressure and coronary heart disease are major causes of chronic illness and death.
Over the past decade, our support has enabled Professor Keavney's team to identify genes in studies of volunteer families which they believe are involved in determining an individual’s personal lifetime risk of high blood pressure and coronary heart disease.
The researchers have also used samples of diseased tissues donated by patients undergoing surgery to find out which genes are ‘switched on’ and active in cells of the heart and circulatory system during disease.
This work focuses particularly on how molecular changes involved in the ageing process interact with known risk factors - such as obesity - in the development of heart disease. The aim is that new genetic discoveries will pinpoint targets for new medicines and interventions to reduce people’s risk of developing heart and circulatory disease.