Research that slayed the 'Newfoundland curse' wins Governor General's Award

Their groundbreaking genetic research has added decades to the lives of people at risk of sudden heart attacks.

Now, four members of Memorial University of Newfoundland's faculty of medicine have won the Governor General's Innovation Award.

The group's research focused on the genetic cause for what's known as the Newfoundland curse … a disease that's been passed through generations of families for hundreds of years.

They feel they are doing fine and suddenly they drop and they don't recover.– Kathy Hodgkinson

Scientists know it as arrhythmogenic right ventricular cardiomyopathy. If untreated it takes a heavy toll. It's estimated that 80 per cent of men and 20 per cent of women who have it die of a sudden heart attack before the age of 50.

Researchers Hodgkinson and Young study a family pedigree that spans hundreds of years. (Mark Quinn/CBC)

"It's a devastating disease in the absence of treatment, but sadly the first symptom may be their last — which is death. So they feel they are doing fine and suddenly they drop and they don't recover," said genetic counsellor and epidemiologist Kathy Hodgkinson.

Electrical failure

Cardiologist Sean Connors says the sudden heart attacks are caused by electrical trouble.

"There are problems which are inborn errors in some families which is not a plumbing problem but an electrical problem. So think about the panel in your house — a breaker trips and the lights go out," he said.

Cardiologist Connors treated patients who were found to have the genetic mutation linked to arrhythmogenic right ventricular cardiomyopathy. (Mark Quinn/CBC)

"If the electrical system of the heart shuts down, your heart stops beating and unless somebody comes to your aid with a mechanism to start your heart beating, you'll die and your death will be sudden."

Pinpointing the genetic error

After gathering information from hundreds of people in families across the province, the MUN researchers found what they were looking for — a small genetic difference between those at risk of the disease and those who aren't.

"We found one single base pair change," said geneticist Terry-Lynn Young.

"So in other words, a single letter in the spelling of a word that changed the function of a protein. It was clear that everybody who had either died from this disease or who currently was affected had a single change. That was the only difference after searching for a long time through many genes."

Memorial University researchers have mapped out pedigrees for more than 25 Newfoundland families who have lost members to sudden, fatal heart failures. (Mark Quinn/CBC)

Young says the discovery sparked a powerful reaction among her and her colleagues.

"It was elation both for me and my students and the clinical team because at that very moment we had a 100 per cent proof way to say within a family that either someone's affected and should be treated or is not going to be affected and doesn't need treatment."

An effective treatment

The researchers also knew that when they identified who had it with a blood test they could also offer treatment.

"This is where we made a great breakthough," said Connors.

They died, for all intents and purposes, and within 10 seconds they're back.– Sean Connors

"We could go to patients and say, 'Hey, we're going to put a safety net in you.' A small implanted defibrillator gets put in the heart and that becomes their safety net, and should the heart stop beating electrically, it can restart it in a matter of seconds. They died, for all intents and purposes, and within 10 seconds they're back."

Led to research ethics legislation

An ethicist with the university's school of medicine is one of the researchers receiving the award.

Daryl Pullman says his role was the least glamourous but it has had a lasting effect.

Pullman is an ethicist with Memorial University's School of Medicine. (Mark Quinn/CBC)

Pullman became involved in looking at the ethics of genetic research after a group of U.S. researchers came to this province looking for the same mutation that the Memorial University team eventually found.

Those U.S. researchers became known as the Texas Vampires.

"They were taking medical records and blood from Newfoundland patients and bringing it back to Texas, but not letting anyone here know what their results were," said Pullman.

"That was the beginning of the odyssey, which eventually resulted in me being involved with this research project as we wanted to ensure that as we proceeded with research in genetics generally that we had proper ethical oversight for that."

That led to legislation that requires that all health research conducted in Newfoundland and Labrador is locally reviewed by the Health Research Ethics Authority.

The 2018 Governor General's Innovation Awards will be presented by Gov. Gen. Julie Payette at Rideau Hall in Ottawa on May 23.

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