Researcher cracking the genetic code of heart conditions

At the University of Calgary’s Libin Cardiovascular Institute, world-renowned researcher Dr. Wayne Chen, PhD, is uncovering hidden genetic causes of deadly heart conditions, paving the way for earlier diagnosis and life-saving treatments for patients and families at risk. 

Uncovering a Genetic Culprit Behind Dangerous Heart Rhythms 

Chen, a professor at the University of Calgary’s Cumming School of Medicine and member of the Libin Cardiovascular Institute, and his international team, have recently identified a surprising player in the genetics of cardiac arrhythmias: the ITPR1 gene. 

Previously known for its role in brain disorders, such as movement disorders and seizures, ITPR1 has now been linked to life-threatening heart rhythm problems, particularly under stress, such as during exercise or emotional events. These arrhythmias can lead to sudden cardiac arrest—one of the most devastating outcomes of heart disease. 

“This is an important first step toward reducing the risk of sudden cardiac death in patients with these mutations,” says Chen. “Now clinicians can include this gene in the screening process for diagnosing unexplained arrhythmias.” 

Published in Circulation, one of the world’s leading cardiovascular journals, Chen’s study identified multiple mutations in ITPR1 that disrupt calcium handling in the heart’s specialized Purkinje fibers—key muscle fibers that help regulate the heartbeat. When the gene malfunctions, it can cause dangerous electrical misfires, leading to arrhythmias. 

A New Test for a Silent Killer 

Chen also co-led the development of a simple, widely accessible clinical test to detect Calcium Release Deficiency Syndrome (CRDS)—a deadly inherited arrhythmia first identified by his lab at the Libin Cardiovascular Institute in 2021. 

Until now, CRDS was virtually invisible to standard clinical tests, often leading to tragic, unexplained cardiac arrests. Chen’s new diagnostic method, published in JAMA, monitors for changes in electrocardiography (ECG) tests after a brief fast heartbeat followed by a pause. The test can be easily performed in many clinical settings using existing equipment. 

“This is an important discovery because there is an urgent need for a clinical diagnostic test for CRDS,” says Chen. “This will allow us to identify individuals at risk, better understand the prevalence of CRDS and, hopefully, develop treatments for the condition.” 

The study, conducted with co-lead Dr. Jason Roberts, MD, and an international team spanning seven countries, represents a major step forward in saving lives. Their work is continuing through the PHRI DIAGNOSE CRDS trial, an international effort to further validate the new test in hundreds of patients worldwide. 

Philanthropy Powers Discovery 

Dr. Robert Rose, PhD, deputy director of the Libin Cardiovascular Institute (LCI), says these discoveries illustrate the importance of investing in fundamental research. 

“Wayne’s research is a perfect example of why discovery science matters,” says Rose. “It lays the groundwork for precision medicine, where we can tailor treatments to the unique genetic makeup of each patient.” 

Each year, approximately 60,000 cardiac arrests occur outside of hospitals in Canada—and fewer than 10 per cent survive. Thanks to world-leading research at UCalgary’s LCI, made possible by the support of national funders, international partners and philanthropic donors, there is new hope for preventing these tragedies. 

“Ultimately, our goal is to save lives,” says Chen. “Every step toward understanding the root causes of arrhythmias brings us closer.” 

Philanthropy Spotlight: Accelerating Discovery, Saving Lives 

At the Libin Cardiovascular Institute, philanthropy powers progress. 

Generous support from the community helped purchase a $1.2-million two-photon confocal microscope, now central to groundbreaking research. 

This advanced imaging tool allows scientists to see deep into living tissue, enabling discoveries that were once out of reach. 

Dr. Wayne Chen, an international leader in arrhythmia research, is using the microscope to observe how calcium channels behave in the beating heart—work that has resulted in the discovery of a life-threatening heart rhythm disorder and diagnostic tool.  

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