Scientists on the cusp of discovering a cure for deadly genetic heart disease

Scientists have said that in just a few years they will be able to cure the genetic heart disease that affects about 260,000 people in the UK and can lead to sudden death.

An international team of researchers is coming together to achieve cutting-edge scientific achievement after a £30 million pledge from the British Heart Foundation (BHF).

They will develop the first cures for hereditary heart muscle diseases by rewriting DNA to edit or suppress defective genes.

The hope is that in just a few years, a “curative” injection could be given to patients as a shot in the arm and could be used to prevent disease in family members who carry the same defective gene.

Hereditary diseases of the heart muscle are caused by various abnormalities in the heart, but can cause sudden death or progressive heart failure.

Every week in the UK, 12 people under the age of 35 die from an undiagnosed heart disease, very often caused by a hereditary heart muscle disease, also known as genetic cardiomyopathy.

All people with genetic cardiomyopathies have a 50-50th risk of passing on the defective genes to each of their children, and often several members of the same family develop heart failure, require a heart transplant, or die at a young age.

Cardiomyopathies often make headlines when they cause sudden cardiac death in young athletes and football players.

The condition nearly claimed the life of footballer Fabrice Muamba while he was playing for Bolton in 2012.

The new study’s team, made up of leading scientists from the UK, the US and Singapore, was selected by an advisory panel chaired by Professor Sir Patrick Vallance, the government’s chief scientific adviser.

Professor Hugh Watkins of the University of Oxford and lead researcher on the CureHeart project said that cardiomyopathies are “really common” and affect one in every 250 people.

“There will be one or two in each school,” he said at the briefing. “Each GP surgical department will have a few patients with these conditions, but the severity can vary.”

He said not all patients would need the proposed new therapy, but “a very large number” would benefit.

He added: “This is our unique opportunity to save families the constant worry of sudden death, heart failure and the potential need for a heart transplant.

“After 30 years of research, we have discovered many of the genes and specific genetic defects responsible for various cardiomyopathies and how they work. We believe we will have a gene therapy ready for clinical trials in the next five years. “

Through a new research agenda, experts hope to permanently fix or silence the mutated genes that cause these heart problems.

They will also consider making up for the deficient supply of protein that occurs when a gene is not working properly.

Christine Seidman, a professor of medicine at Harvard Medical School in the US and one of the leaders of the CureHeart project, said the idea is to “fix the heart” and return it to more normal function.

She said: “Most of the mutations that we find in our human patients – and although they (the mutations) are huge – they all often change a single letter of the DNA code.

“It raised the possibility that we could change that one letter and restore the code so that it now creates a normal gene with normal function.”

She said some “very elegant chemistry” has already advanced the field of science, adding: “Our goal is to fix hearts, stabilize them where they are, and possibly get them back to more normal functioning.”

“We may be able to apply these therapies before the onset of the disease in people that we know about from genetic testing, who are at extreme risk of developing the disease and progressing to heart failure.

“Never before have we been able to deliver medicines, and that’s what our project is about. We know we can do it and we’re eager to get started.

“With our ability to show this, we think we have an exceptional opportunity to extend these treatments to many other forms of heart disease.”

For the first time, the team will use precise genetic techniques, called base and primary editing, in the heart.

Animal studies have already shown that the methods work.

Professor Sir Nilesh Samani, Medical Director of the BHF, said: “This is a defining moment for cardiovascular medicine.”

“The killer gene was passed on to my son”

Grace Harshaw of Banbridge was diagnosed with dilated cardiomyopathy (DCM) in 2019.

DCM is often an inherited heart muscle disease in which the muscle walls enlarge and weaken, meaning that the heart cannot properly pump blood throughout the body. After being diagnosed, a six-year-old grandmother learned that her son Noel was a carrier of the DCM gene. The 61-year-old woman said sudden cardiac death ran through her family tree.

“My aunt died at the age of 42 and my other cousin died at the age of 20. Both went into sudden cardiac arrest. My father’s mother came from a large family with many heart problems, but before I was diagnosed, we did not realize that this gene was passed through our entire family, ”she said.