Research - the key to tackling deadly genetic conditions

13 January 2016        

Category: About BHF

Simon Gillespie

We estimate that more than 6,000 people are born each year in the UK with a genetic fault that puts them at a high risk of suffering from an inherited heart condition, which could lead to a heart attack or cardiac arrest. Our Chief Executive, Simon Gillespie, talks about how BHF-funded research will ultimately enable us to lose fewer people to these deadly conditions.

In the UK there are as many as half a million people living with genetic irregularities that put them at risk of suffering a sudden heart attack or cardiac arrest. For some, these slight imperfections in the genetic information which carries their body’s instruction manual can be deadly. 

Heart diseases caused by genetic imperfections are not selective based on age or lifestyle. In fact, research suggests that each week in the UK 12 apparently fit and healthy people aged 35 and under die of an undiagnosed heart condition. Funding more research holds the key to changing this.  

Nobody knows the devastation that these heart conditions cause better than Lizzie Jones. Lizzie’s husband – professional Rugby player Danny Jones – died after suffering a sudden cardiac arrest while playing for the Keighley Cougars in May last year. He was just 29. 

Danny had an undiagnosed inherited heart condition called hypertrophic cardiomyopathy (HCM). Danny’s death has devastated the family and in future Lizzie and Danny’s twin children will have to be tested for the faulty gene that can lead to the condition. 

Research is the only answer

However, BHF research is showing the promise that we might be able to save the lives of people like Danny in future. But we desperately need the public’s continued support to keep making the progress that will save many lives. 

Thanks to discoveries made by BHF scientists, it is now possible to genetically test people for some of the faults that can cause potentially deadly inherited heart conditions. 

For example, BHF Professors Hugh Watkins and Bill McKenna were among the first to uncover some of the faulty genes responsible for HCM – the condition that Danny died of. With the help of BHF funding, Professor Watkins and his team are now testing three different ways of treating the disease.

However, we can only find and treat those irregularities that we already know about. Many of the genetic changes which could lead to an increased risk of heart disease still need to be discovered. In the case of HCM, we estimate that we have only discovered about half of the genetic faults that put people at risk of the condition. 

We want to be able to identify more people that carry the genetic fault for some of these deadly conditions. This will mean they can be monitored or given the treatment that could prevent a sudden, devastating death at a young age. 

We urgently need to fund research to find undiscovered faulty genes that could help diagnose people with serious inherited heart conditions. Without your support for our life saving research we won’t be able to do that.



Correction 14/07/17 At the time of Danny's death it was believed that his death was caused by hypertrophic cardiomyopathy (HCM), it has since been discovered that his death was caused by arrhythmogenic right ventricular cardiomyopathy (ARVC).