Researchers studying rare genetic variants to uncover cardiovascular diseases

A multi-disciplinary team of University of Calgary researchers is aiming to use genetic variants to discover new cardiovascular diseases and disease mechanisms. 

Libin Cardiovascular Institute members Dr. Wayne Chen, PhD, and Dr. Robert Rose, PhD, are leading a novel study investigating the genetics behind rare cardiovascular conditions. Their goal is to understand the mechanisms behind these conditions and to develop diagnostic tests and treatments for individuals who are suffering.

Chen and Rose, together with a multi-disciplinary group of basic and clinician-researchers with expertise in medical genetics, molecular biology, electrophysiology and cardiac physiology, recently received the Libin Institute’s Michael and Terry Wilson Cardiovascular Research Innovation Fund grant to support this initiative. 

“There are diseases that people don’t even know exist, and patients whose physicians don’t have a clear understanding of what is causing their symptoms,” says Chen. “Sometimes these patients are just suffering and there are no effective treatments. That’s why we would be thrilled to discover, understand, diagnose and treat new diseases.” 

The team will be investigating gene variants that may play a role in cardiovascular conditions. They’ll accomplish this by developing mouse models that replicate what’s happening genetically and phenotypically in patients with rare conditions. 

“Thanks to the expertise and specialized equipment in our labs, we can take a broad, multi-faceted approach that provides a unique opportunity to characterize new conditions,” says Rose.  

This process has already proven to be successful. Chen discovered a deadly cardiac arrhythmia syndrome, CRDS, and later developed a simple test to diagnose it. 

According to Rose, Chen’s previous work in developing animal models plays a critical role in making this work possible.  

“This is something that not long ago took one to two years and hundreds of thousands of dollars,” says Rose. 

He’s excited about the project, noting that linking a patient’s genetic background to their condition is a precision medicine technique that is critical in helping people with rare syndromes. Their findings may also lend insight into common cardiovascular diseases. 

“We hope that this project will give us the opportunity to provide people with options that they currently don’t have,” says Rose. “And in some cases, we may find these variants are more common than we realize in the population, and that the mechanisms underlying the rare disease could be operating in very common diseases.”

Moving forward, the team hopes to develop new collaborations with clinicians and clinician-scientists working on rare diseases. Interested collaborators can reach out via email to Rose at  robert.rose@ucalgary.ca and Chen at swchen@ucalgary.ca.