By Melinda Mullen
For Sara Coles, ’18 MD, it was an incident in 2010 that would change her career trajectory. She was working as an athletic trainer in Orange, California, while pursuing an athletic training degree from Azusa Pacific University, when she received a devastating call from her parents. Her 15-year-old brother’s heart had stopped. EMS was able to resuscitate him and immediately fitted him with a defibrillator that would shock his heart back into normal rhythm, if necessary. The diagnosis was Brugada syndrome, which causes arrhythmia (irregular heartbeat) and cardiac arrest.
For Coles and her family, the incident was emotionally wrenching—and eye-opening. They learned that Brugada is often genetic and that an increasing percentage of sudden cardiac deaths, which account for 15 to 20 percent of total deaths worldwide, is due to inherited arrhythmia.
The experience so affected Coles that, after completing her degree and working for five years in sports medicine, she applied to medical school, determined to find a way to help patients with genetic heart conditions. Her enrollment in the Ohio State College of Medicine was just the beginning of a career now dedicated to researching the relationship of genetics to heart disease.
“Ohio State was an incredibly formative experience for me,” she says. “In Dr. [Peter] Mohler’s lab, I was given a lot of responsibility and the freedom to experiment and take on difficult challenges. I learned so much from the talented teams I work with. What I believe the College of Medicine does so well is prepare practitioners of medicine in the current healthcare system, while providing the skills needed to ask the right questions and to move health care in a better direction.”
From the first month of training, she says, she learned how to talk to patients. “I was constantly placed in positions to complete ‘firsts’ with them.”
Right from the start, she says, Ohio State provided opportunities for building a career, including learning about the business of health care, and offering the funding to study artificial intelligence in medicine and to travel to advocate for patient-centered healthcare policies. “That’s what was unique and so incredible to me.”
Most of all, Coles credits mentors at Ohio State for guiding her toward her career. “Thanks to the amazing mentorship and opportunity I was given at the College of Medicine, I’m well-equipped to create change in the areas of cardiology and cardiac genetics, even in the midst of my training.”
Now a resident at Duke University School of Medicine, Coles has already led research projects that have garnered praise from mentors and colleagues and contributed significantly to cardiac science.
“Her work is incredibly important for the field,” says Peter Mohler, PhD, vice dean for research at the College of Medicine and chair and professor, Department of Physiology and Cell Biology. “She not only pioneered new diagnostics for potentially fatal disease, but she has provided new insight into treating rare and common forms of heart disease in adults worldwide. Her work defines new human disease pathways that will allow new diagnostics and therapies for potentially lethal forms of cardiovascular disease.”
Tracking down the genes
Coles’ research focuses on identifying genetic variants linked to cardiac phenotypes, the properties that are produced by the heart’s genetic makeup and environment. These can manifest at any age. Researchers need to know what variants are linked to cardiac disease in order to treat it, to help at-risk families and individuals, and simply to learn more about how the heart works
At Ohio State, Coles’ major project studied how “normal” and “abnormal,” or genetic variant, genes affected cardiac function, and how such a variant could contribute to arrhythmia.
“We learned that a protein in the heart, that we originally thought had nothing to do with the electrical conduction of the heart, indeed can put people at risk for heart arrhythmias,” she explains.
The next steps are to figure out how to treat the abnormality with medications, devices or other interventions, and to decide whether and how to screen for it. Currently, screening is done with genetic testing from physicians and genetic counselors, since direct-to-consumer genetic testing platforms aren’t used for making medical decisions because there’s no policy governing what they test for or report.
“Genetic research is expanding at a rapid pace, but we will have a long way to go to understand how to best use genetic data in the context of medical care,” Coles says. “I hope to be a contributing part of the army of physicians, scientists, data informaticists, statisticians and epidemiologists working to understand genetic data and how to implement its use in the field of medicine, and specifically in cardiology.”
The challenge: patients as partners
As a resident currently working in a primary care facility, Coles says the medicine is the easier part— more challenging is getting patients involved in their own care. “There’s a lot of distrust within the healthcare system because of past errors and false information that creates a gap between physicians and patients,” she says.
“I’ve learned that the only way to even begin to bridge this gap is through building relationships: spending what time I can with patients to listen to what’s important to them, then meeting them there and being a partner with them in their health. I’ll continue to learn from senior physicians, research projects and experienced colleagues about complex cardiac disease and its management. However, learning to build relationships with my patients is going to be the largest contributor to becoming a successful cardiologist.”
As any resident can attest, there’s little time left to balance a life. In what off time she does have, Coles likes to spend it outdoors with her husband, hiking, running or swimming. “Coming from the West Coast, I can appreciate the power of healing that comes from a hike in the mountains or a day at the beach,” she says.
For Sara Coles, it’s all about living a better, longer life, for herself and for future heart patients like her brother.