Early gene-editing success holds promise for preventing inherited heart diseases

2 August 2017        

Category: Research

Scientists have, for the first time, used gene-editing to correct the genetic mutation for a heart condition known as hypertrophic cardiomyopathy (HCM). 

This new advance could mean that it would be possible to correct the defect at the earliest stage of embryonic development so that the defect would not be passed on to future generations.

The most common cause of sudden cardiac death in under-35s

HCM is a genetic condition caused by a change or mutation in one or more genes and is passed on through families. Each child of someone with HCM has a 50 per cent chance of inheriting the condition.

About 1 in 500 of the UK population has the condition, although many will have few, if any, symptoms. However, for some it can lead to a sudden cardiac arrest without any warning.

If you have HCM, the muscular wall of your heart - the myocardium - becomes thickened, making the heart muscle stiff. This thickening makes it harder for your heart to pump blood out of your heart and around your body.

Cutting-edge science

Professor Jeremy Pearson, our associate medical director, said:

“Every week in the UK 12 people under the age of 35 die of a sudden cardiac arrest and hypertrophic cardiomyopathy is the leading cause. Our research has helped to discover some of the genetic defects responsible, but there is no way of curing the condition or stopping it from developing.” 

“This cutting-edge science shows that it is possible to correct an HCM mutation carried by the father’s sperm in a human embryo. Longer term, this could set the stage for new treatments to stop deadly conditions like HCM being passed down through generations."

Not yet a clinical reality

He went on to add:

"However, it is far from being a clinical reality –more research is needed to understand whether the method is widely applicable, and there are significant ethical and legal concerns to be resolved before it could become lawful.”

“Right now, we need better screening for the disease, and the BHF with the support of the Miles Frost Fund is working towards the national rollout of genetic testing for all families affected across the UK.”  

Miles Frost Fund

Miles Frost – the eldest son of the late Sir David Frost – died suddenly of HCM at the age of just 31. 

Miles’ death devastated his family and friends. And it was made all the more painful when they were told Miles inherited the condition from his father, Sir David Frost. 

Clinical and genetic tests are available to identify those at risk of HCM, but Miles was never tested. 

In Miles’ memory, the Frost family have set up the Miles Frost Fund with the aim of raising £1.5 million to help make genetic testing available to all families affected by HCM. 

Find out more about the Miles Frost fund