Scientists are to develop the world’s first cure for genetic heart disease by rewriting DNA in a move hailed as a ‘watershed moment’ for cardiovascular medicine.
A global team of experts from the UK, US and Singapore are joining forces to design a shot in the arm for patients to save thousands of lives after receiving a £30million grant from the British Heart Foundation.
The team will for the first time use precision genetic techniques, called basic and prime editing, in the heart to design and test the first cure for inherited heart muscle diseases, with the goal of silencing faulty genes. Animal studies have already shown that the techniques work.
“This is a watershed moment for cardiovascular medicine,” said Professor Sir Nilesh Samani, BHF Medical Director.
Hereditary conditions of the heart muscle are caused by different abnormalities of the heart, but can lead to sudden death or progressive heart failure. Around 260,000 people have the condition in the UK, which can lead to sudden death at any age.
Every week in the UK, 12 people under the age of 35 die from undiagnosed heart disease, very often caused by an inherited disease of the heart muscle, also known as genetic cardiomyopathy.
All people with genetic cardiomyopathies have a 50/50 risk of passing defective genes on to each of their children, and often several members of the same family develop heart failure, need a heart transplant, or die at some point. young age.
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 principal investigator of the CureHeart project, said cardiomyopathies were “very common” and affected one in 250 people worldwide.
“This is our unique opportunity to relieve families of the constant worry of sudden death, heart failure and the potential need for a heart transplant,” he said. “After 30 years of research, we have discovered many specific genes and genetic defects responsible for different cardiomyopathies, and how they work. We believe we will have gene therapy ready to be tested in clinical trials within the next five years. »
Under the new research program, experts hope to correct or permanently silence the mutated genes involved in causing these heart problems.
Christine Seidman, professor of medicine at Harvard Medical School in the US and co-lead of the CureHeart project, said the idea was to “repair hearts” and return them to more normal function.
“Most of the mutations we find in our human patients – and although there are a large number [mutations] – they will all change a single letter of the DNA code frequently,” she said. “It raised the possibility that we could modify that single letter and restore the code so that it now makes a normal gene, with normal function.”
She said ‘very elegant chemistry’ has already advanced this field of science, adding: ‘Our goals are to repair hearts, stabilize them where they are and perhaps return them to more normal function. .
“We may be able to deliver these therapies before illness, in people who we know through genetic testing are at extraordinary risk of developing disease and progressing to heart failure. Never before have we been able to provide remedies, and that is what our project is about. We know we can do it and we are aiming to get started.