A global team of experts from the UK, US and Singapore are joining forces to design an arm puncture for patients that will save thousands of lives after being awarded a £30m grant by the British Heart Foundation. The team will use precision genetic techniques, called core and primary editing, in the heart for the first time to design and test the first treatment for inherited heart muscle disease, aimed at silencing faulty genes. Animal studies have already shown that the techniques work. “This is a defining moment for cardiovascular medicine,” said Professor Sir Nilesh Samani, BHF’s medical director. Hereditary heart muscle diseases are caused by different abnormalities in the heart, but can cause sudden death or progressive heart failure. Around 260,000 people in the UK have the condition, which can cause sudden death at any age. Every week in the UK, 12 people under the age of 35 die from an undiagnosed heart condition, most often caused by an inherited disease of the heart muscle, also known as genetic cardiomyopathy. Everyone with genetic cardiomyopathy has a 50/50 risk of passing on faulty genes to each of their children, and often multiple members of the same family develop heart failure, need a heart transplant, or die young. The team behind the new research was selected by an advisory committee chaired by Professor Sir Patrick Vallance, the UK government’s chief scientific adviser. Professor Hugh Watkins, from the University of Oxford and lead researcher on the CureHeart programme, said cardiomyopathy was “really common” and affected one in 250 people worldwide. “This is our first opportunity to relieve families of the constant worry of sudden death, heart failure and the possible need for a heart transplant,” he said. “After 30 years of research, we have discovered many of the genes and specific genetic defects responsible for different cardiomyopathies and how they work. We believe we will have a gene therapy ready to begin testing in clinical trials within the next five years.” As part of the new research program, experts hope to permanently correct or silence the mutated genes involved in causing these heart problems. Subscribe to First Edition, our free daily newsletter – every morning at 7am. BST Christine Seidman, a professor of medicine at Harvard Medical School in the US and co-leader of the CureHeart program, said the idea was to “fix the hearts” and return them to more normal function. “Most of the mutations we find in our human patients – and while there are a huge number of them [mutations] “Everyone often changes a single letter of the DNA code,” he said. “This has raised the possibility that we could change that one letter and reset the code so that it now creates a normal gene, with normal function.” He said some “very elegant chemistry” had already advanced this area of science, adding: “Our goals are to fix the hearts, fix them where they are and maybe get them back to a more normal function. “We may be able to provide these treatments before disease, to people who we know from genetic testing are at exceptional risk of developing disease and developing heart failure. Never before have we been able to deliver cures, and this is our work. We know we can do it and we aim to start.”
