Ground-breaking approach set to develop first cures for inherited heart muscle diseases - James Leiper

This month we were delighted to announce the winners of the British Heart Foundation’s Big Beat Challenge – an international team of researchers aiming to develop a cure for inherited heart muscle conditions.

The global award, at £30m, is one of the largest non-commercial grants ever given and presents a “once in a generation opportunity” to provide hope for families struck by these killer diseases, which affect thousands of people in Scotland.

The winning team, CureHeart, is looking to develop the first cures for inherited heart muscle diseases by pioneering revolutionary and ultra-precise gene therapy technologies that could edit or silence the faulty genes that cause these deadly conditions.

Inherited heart muscle diseases can cause the heart to stop suddenly or cause progressive heart failure in young people. Every week in the UK, 12 people under the age of 35 die of an undiagnosed heart condition, very often caused by one of these inherited heart muscle diseases, also known as genetic cardiomyopathies.

Professor James Leiper, Associate Medical Director, British Heart Foundation

It’s estimated that around 260,000 people in the UK – around 22,000 in Scotland – are affected by genetic cardiomyopathies, with a 50:50 risk they will pass their faulty genes on to each of their children. In many cases, multiple members of the same family if affected by the condition may develop heart failure, need a heart transplant, or are lost to sudden cardiac death.

The team – made up of world-leading scientists from the UK, US and Singapore, will take revolutionary gene-editing technology to the next level by deploying ultra-precise techniques in the heart for the first time. These ground-breaking approaches use ingenious molecules that act like tiny pencils to rewrite the single mutations that are buried within the DNA of heart cells in people with genetic cardiomyopathies.

They will focus this technology on two areas. First, where the faulty gene produces an abnormal protein in the pumping machinery of the heart, the team will aim to correct or silence the faulty gene by re-writing the single spelling mistakes or switching off the entire copy of the faulty gene.

Second, where the faulty gene does not produce enough protein for the heart muscle to work as it should, the team plan to increase the production of healthy heart muscle proteins by using genetic tools to correct the function of the faulty copy of the gene or to stimulate the normal copy of the gene.

They believe the therapies could be delivered through an injection in the arm that would stop progression and potentially cure those already living with genetic cardiomyopathies. It could also be used to prevent the disease developing in family members who carry a faulty gene but have not yet developed the condition.

We believe this is a defining moment for cardiovascular medicine. Not only could CureHeart be the creators of the first cure for inherited heart muscle diseases by tackling killer genes that run through families, it could also usher in a new era of precision cardiology.

Once successful, the same gene editing innovations could be used to treat a whole range of common heart conditions where genetic faults play a major role. This would have a transformational impact and offer hope to the thousands of families worldwide affected by these devastating diseases.

With the public’s support, the aim of the Big Beat Challenge was to move past incremental progress and make a giant leap in an important area of heart patient care. Creating the world’s first genetic cure for a heart disease would undoubtedly do this and has the potential to stop families losing loved ones to these cruel diseases. However, we need the continued backing of our supporters to turn science like this into a reality for the millions of people around the world living with heart disease.

Professor James Leiper, Associate Medical Director, British Heart Foundation


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