Watch: How are we changing lives with research?

At the BHF we fund research into heart and circulatory disease and ensure discoveries from the lab bench make a difference at the patient’s bedside. Here’s one example of how we’ve done just that…

We invest around £100 million a year in research and world class researchers, like Professor Steve Humphries. He made many important discoveries about the faulty genes that cause a condition called familial hypercholesterolaemia (FH). If left untreated, this can reduce life expectancy by 20-30 years.

Thanks to Professor Humphries’ research, a blood test was developed that shows whether someone has a fault in one of three key genes. Since FH is genetic, we introduced cascade testing. This ensures first-degree relatives of those diagnosed are also offered the genetic test, as there is a 50 per cent chance they will also test positive. We piloted cascade testing in Wales and evaluated it to prove that it reduced the risk of premature cardiovascular disease, and is cost-effective. As a result, it’s been rolled out across the UK. 

If a faulty gene is detected, patients can start treatment on statins to effectively manage their cholesterol levels and give them a normal life expectancy – avoiding the devastation of premature death. So far we’ve diagnosed and treated more than 1,000 people.

If we can diagnose and treat just 50 per cent of people with FH in the UK, we could save the NHS £3.4 million.

We’re also working on more than 1,000 research projects all over the country. For example, we’re now rolling out testing to families affected by hypertrophic cardiomyopathy, which can cause sudden death.

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