Belfast Telegraph

Prof launches test to find genetic fault behind heart disease

Diagnosis: Fenton Butler
Diagnosis: Fenton Butler

By Christopher Leebody

A leading genetics expert, who developed a test for a potentially deadly disease, is to address an event in Stormont today.

Professor Steve Humphries, Emeritus Professor of Cardiovascular Genetics at University College London, has developed a DNA test for the potentially fatal heart condition known as Familial Hypercholesterolaemia (FH).

Funded by the British Heart Foundation, Prof Humphries' research has led to the development of a new blood test which will specifically identify the genetic fault in those believed to be at risk.

The first of its kind in the UK, the professor will launch what is billed as "a new pathway for patients" across all five health trusts, ensuring those at risk of FH are identified and treated at the earliest stage.

He said: "I am pleased to visit Belfast to launch this new FH pathway for patients in Northern Ireland. My life's research has been on FH and discovering that a DNA test could be used to see whether relatives of someone with FH also have the condition.

"Since then we've put a lot of work into developing faster and faster, more accurate and cheaper ways to test and find the genetic mutation in a person if he or she is suspected of having FH.

"I'm delighted to see Northern Ireland leading the way with this new model which aims to identifying patients and potentially saving lives," he added.

Affecting one in every 250 people here, the genetic condition causes dangerous levels of cholesterol to build up in the organ, significantly increasing the risk of a heart attack.

Fenton Butler (72), from north Belfast, was one of the first to be diagnosed with the condition in the 1970s. He inherited it from his father and has since seen the impact affect multiple generations of his family.

"I was diagnosed after my brother was admitted to hospital and they suggested the whole family have our cholesterol levels checked," he said.

"Out of us six children, five of us were diagnosed with FH. I was the youngest in my family, so was only 22 or 23 at the time.

"Since then another two generations have been diagnosed with FH, including my daughter."

Mr Butler is one of the more than 7,200 people in Northern Ireland who it is estimated have the condition and he welcomes the innovation in testing.

"No one wants to be diagnosed with an illness that can lead to an early death, we are grateful that we have been given the chance through the testing."

The event, sponsored by Alliance MLA Paula Bradshaw, takes place between 1.30pm and 4pm.

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