Profile: Jeffrey A. Towbin, MD

Young hearts inspire cardiologist to find research answers

Pediatric Cardiologist Jeffrey A. Towbin, MD, dreams of a day when there are no transplant doctors – when scientists so clearly understand the causative genes and proteins for cardiomyopathies that they are able to develop targeted therapies to protect children from heart failure and sudden death.

It’s what drives him to the bench.

Towbin, a pediatric cardiologist and cardiac researcher, recently became executive co-director of the Heart Institute and Chief of Cardiology at Le Bonheur Children’s Hospital. He serves as chief of Cardiology at St. Jude Children’s Research Hospital and chief of Pediatric Cardiology at the University of Tennessee Health Science Center as well. He also serves as vice chair of Strategic Advancement and will hold the St. Jude Chair of Excellence in Cardiology at Le Bonheur.

He comes to Le Bonheur from Cincinnati Children’s Hospital Medical Center, where he successfully built one of the country’s largest and most well respected pediatric cardiology programs.

“Dr. Towbin is a pioneer in advancing the field of cardiac research and what we know about cardiovascular disease in children,” said Chris Knott-Craig, MD, chief of Cardiovascular Surgery and executive co-director of the Le Bonheur Heart Institute. “His expertise will help the Le Bonheur Heart Institute advance our mission of finding better ways to diagnose and treat complex pediatric heart diseases, especially those with heart failure and malignant disease.”

Towbin has spent his career studying heart disease and heart failure. His research has been funded continuously since 1987 and he has trained more than 50 post-doctoral and 20 pre-doctoral students – many of whom now have high level academic faculty positions.

His laboratory research team has been a leader for many years in the field of gene discovery and mechanisms of cardiomyopathies, arrhythmias, sudden cardiac death, vascular disorders and congenital heart disease – as well as viral causes of myocarditis, cardiomyopathies, transplant rejection and transplant coronary disease.

He has co-authored more than 475 publications in high-impact journals, served as a principal mentor for multiple K-Grant-funded trainees and has been a member of multiple T32 training grants. In 2007 he received the American College of Cardiology (ACC) Distinguished Scientist (Basic Science) Award, and in 2013, he was awarded the American Heart Association’s Basic Research Prize.

Towbin pioneered the concept of pathway-focused candidate gene analysis using his “final common pathway hypothesis,” and calls his work in understanding how heart muscle turns into heart muscle disease, or cardiomyopathy, his most important research work to date.

“Many years ago, my lab was able to identify a major gene for muscular dystrophy, the dystrophin gene, as a cause of just heart disease instead of heart and muscle disease,” he said. “We’ve used that to enable us to understand what other genes and proteins might be causative of cardiomyopathies, heart failure and sudden death.

”Towbin says he finds inspiration for his research work at the bedside: the initial questions come from caring for his patients. To find solutions, he goes to the research bench to identify the genetic basis of disease.

Today, his work has helped families better understand their risk for developing cardiomyopathy, and he hopes it leads to the development of targeted therapies for those patients.

“It would be fantastic if no one had to say they were transplant doctors because we were better able to take care of patients with cardiomyopathies and heart failure, so they don’t have to go down that final path of needing a heart transplant,” Towbin said. “That’s really been the goal set and why I went to the bench in the first place.”

At Le Bonheur, Towbin plans to recruit a large cadre of faculty to develop several novel clinical and research programs to the already excellent heart care provided at Le Bonheur, and enhance the training of pediatric and congenital cardiologists. He also plans to develop a new cardio-oncology specialty, in partnership with St. Jude Children’s Research Hospital.

“I hope to accomplish the building of a nationally recognized destination program with world-class expertise and help the field to expand into new areas of care based on the paradigm we develop,” he said.