Researchers are on the cusp of a breakthrough cure for deadly genetic heart disease

Scientists said they are just a few years away from curing the genetic heart disease which affects around 260,000 people in the UK and can cause sudden death.

An international team of researchers are coming together for cutting-edge science after receiving £30million from the British Heart Foundation (BHF).

They would develop the first cures for hereditary diseases of the heart muscle by rewriting DNA with the aim of editing or silencing defective genes.

The hope is that within just a few years a ‘cure’ 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 faulty gene.

Hereditary conditions of the heart muscle are caused by different abnormalities of the heart, but can lead to sudden death or progressive heart failure.

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 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.

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

The condition almost claimed the life of footballer Fabrice Muamba when he played for Bolton in 2012.

The team behind the new research, made up of leading scientists from the UK, US and Singapore, was selected by an advisory committee chaired by Professor Sir Patrick Vallance, Chief Scientific Adviser to the government.

Professor Hugh Watkins, from the University of Oxford and principal investigator of the CureHeart project, said cardiomyopathies are “very common” and affect one in 250 people.

“There will be one or two in each school,” he told a briefing. “Each GP surgery will have multiple patients with these conditions, but there is a range of severity.”

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

He added: “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.

“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.

They will also seek to replenish the insufficient protein supply that occurs when a gene malfunctions.

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.

She said: “Most of the mutations that we find in our human patients – and although there are a large number of them (mutations) – they will all change a single letter of the DNA code frequently.

“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 administer these therapies before disease, 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 deliver cures, and that’s what our project is about. We know we can do it and we’re aiming to get started.

“With our ability to show this, we believe there is tremendous opportunity to extend these therapies to many other forms of heart disease.”

The team will use precision genetic techniques, called base and prime editing, in the core for the first time.

Animal studies have already shown that the techniques work.

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

“The killer gene was passed on to my son”

Grace Harshaw, from outside Banbridge, was diagnosed with Dilated Cardiomyopathy (DCM) in 2019.

DCM is an often inherited disease of the heart muscle that causes the muscle walls to widen and weaken, which means the heart cannot pump blood properly throughout the body. After her diagnosis, the grandmother of six learned that her son Noel carried the DCM gene. The 61-year-old said sudden cardiac death ran through her family tree.

“My aunt died at the age of 42 and another cousin of mine died in their twenties. Both had sudden cardiac arrests. My father’s mother came from a large family with a lot of problems heart disease, but until my diagnosis we didn’t realize that this gene ran in our family,” she said.