Research that slew 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'sknown as the Newfoundland curse a disease that's been passed throughgenerations offamilies for hundreds of years.

They feel they are doing fine and suddenly they dropand they don't recover.- Kathy Hodgkinson

Scientists know it as arrhythmogenicright ventricular cardiomyopathy. If untreated it takes a heavy toll. It's estimated that80 per cent of men and 20 per cent of women who have it die of a sudden heart attack before the age of 50.

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

Electrical failure

Cardiologist Sean Connorssays the sudden heart attacks are caused byelectrical trouble.

"There are problems whichareinborn 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.

"If the electrical system of the heart shuts down, yourheart 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 whohad 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."

Young says the discoverysparked a powerfulreaction 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 withina family thateither 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 patientsand 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 schoolof medicine is one of theresearchers receiving the award.

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

Pullman became involved in looking at the ethics of genetic research after agroup of U.S. researchers came to this provincelooking for the same mutation that the Memorial University team eventuallyfound.

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 involvedwith 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 Labradoris locally reviewed by theHealth Research Ethics Authority.

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