BHF Professor Steve Humphries and his team aim to identify genes that contribute to the development of heart disease by analysing the DNA of large numbers of healthy people and people with heart disease.
Professor Humphries has a particular interest in an inherited disease called Familial Hypercholesterolaemia (FH) which causes dangerously high levels of cholesterol in the blood from an early age. 120,000 people are estimated to have FH in the UK, but only about 10 per cent or less have been identified.
Suzanne found out she had an inherited FH after her dad died from a heart attack aged just 41. Her doctor recommended that she and her family should have their blood cholesterol levels tested. While the rest of her family was fine, Suzanne’s cholesterol levels were high. She was referred to a lipid clinic where she met a specialist who provided advice and support, helping her understand how to manage her condition.
Early identification of FH means people can make changes to their lifestyle, including their diet, and be given medication such as statins to give them the best chance of preventing heart disease and living a longer, healthier life.
Professor Humphries' team has developed genetic screening methods for FH. They have used these techniques to establish a national DNA diagnostic service, which has already found many people like Suzanne with FH by tracing the relatives of known FH patients.
Environment and genes
Lifestyle and environmental factors have a major impact on our risk of getting heart disease. Over several years, this London team's work has focused on examining exactly how our individual genetic codes seem to alter the harm or benefit to our health we get from certain environmental factors, especially smoking.
Professor Humphries and his team develop laboratory methods to examine how variations in certain genes affect the proteins that they encode. This work may be key to understanding heart disease. It also opens up the possibility of using DNA information to identify people with an inherited predisposition to develop early heart disease. Such people could then be given lifestyle advice and offered medical therapy to reduce their subsequent risk.
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Thanks to Professor Humphries' research, which we have funded, genetic testing for FH is being rolled out across the NHS which ensures close family members of people diagnosed will be tested to ensure they get treatment as soon as possible, if they have FH too.
Professor Humphries answers questions on familial hypercholesterolaemia for Heart Matters.