Dr. Karen Bedard

Dr. Karen Bedard

Dr. Karen Bedard

Cardiovascular

On the trail of a culprit gene: Dr. Karen Bedard hunts for the genes behind a deadly disease of the heart

Arrhythmogenic right ventricular cardiomyopathy (ARVC) may not be so common in the population at large (it affects from 1 in 1,000 to 1 in 5,000), but it is one of the most common causes of cardiovascular death in young people aged 14 to 35. There is currently no reliable way to diagnose the disease, so most people are unaware they are even at risk of cardiac death until their heart suddenly stops. 

"Developing diagnostic tools will make the difference between life and death for people with this cardiomyopathy, because they can receive an implanted cardioverter device that will restart their heart if it stops," says Dr. Karen Bedard, an associate professor in the Department of Pathology at Dalhousie Medical School. "That's why we're trying to identify genetic mutations and changes in gene expression associated with the disease."

Although ARVC is widely considered to be an inherited disease, only about half of all cases are caused by known genetic mutations (13 have been found). The rest of the mutations have yet to be identified. This is the case with a Nova Scotia family that's lost several young members to ARVC. They are providing Dr. Bedard and her collaborators with blood samples, in hopes the researchers can pinpoint the genes behind the disease that's affecting their family, so that they—and other famiies like them—can someday be screened.

Dr. Bedard's findings about the molecular mechanisms that lead to ARVC may also apply to other, more common, forms of heart disease. "In ARVC, the heart muscle cells are gradually replaced with fat and Fibrotic tissue," she explains. "Fat deposition and fibrosis are involved in aging as well as several other kinds of heart disease, so this is something my colleagues and I will explore."

Among others, Dr. Bedard collaborates with Dr. Gardner in the Cardiovascular Research Group (CVRG) at Dalhousie Medical School.

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