The clinical genetic researcher
Professor Sir Nilesh Samani is BHF Chair of Cardiology at the University of Leicester. His work involves studying families who suffer from heart disease.
To help protect families with an inherited risk of heart disease – they can be left devastated by premature deaths from heart attacks.
Our genes determine everything about our physical make-up, from whether we’re male or female to the colour of our eyes.
But sometimes genes mutate, or change, with harmful consequences. We know that some types of heart disease can be caused by a change in one gene, which is then passed on to future generations. But coronary heart disease is more complex because a person’s risk is affected by age and lifestyle as well as by genes. It’s not just one gene either – there are several involved, with each affecting risk by a modest amount.
Our aim is to identify which genes increase risk and how these genes behave so in future we can influence their effects and reduce a person’s risk
Our aim is to identify which genes increase risk and how these genes behave so in future we can influence their effects and reduce a person’s risk.
What it involves
Through the BHF-funded Family Heart Study, we’ve recruited more than 2,000 UK families, each with more than one member who developed coronary artery disease prematurely. This genetic database is recognised as one of the best collections available worldwide from which to investigate the genes that cause coronary artery disease.
By analysing the genetic make-up of these volunteers, we’ve identified more than 30 genetic changes that contribute to increased risk of coronary heart disease and heart attacks.
An important discovery has been that most of these genes don’t work by increasing the known risk factors such as blood pressure and cholesterol. Unfortunately, we don’t yet know exactly how they do raise risk.
Right now, we’re researching whether analysing a person’s genetic make-up will help us to accurately predict their risk of heart disease in future.
What it means for you
In future, genetic testing could be added to health checks to help assess a person’s risk of developing coronary heart disease prematurely. And once we discover exactly how these genes raise risk of the disease, we may be able to develop new drugs to stop their harmful effects.
The ultimate goal would be to identify patients with a high genetic risk and give them drugs to prevent the harmful effects of the genes – a sort of personalised medicine. However, it may be some years off.
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