Congenital Heart Center Basic and Transitional Research

U-M Congenital Heart Center investigators conduct basic and translational investigation geared toward supporting breakthroughs in congenital heart care.

Personalized medicine

Mark Russell, MD, is leading a team of physicians and scientists exploring the genetic determinants of heart conditions, recently identifying novel genes and developmental pathways responsible for a congenital heart defect called tetralogy of Fallot and contributing to a multicenter collaborative effort to identify genes for a range of serious heart defects including hypoplastic left heart syndrome. The work has led to important insights into how heart defects occur, and ongoing studies will seek to identify protective strategies. In addition, these studies have determined that, in an important number of patients, development of the brain is affected by the same genetic process that has affected the development of the heart, resulting in altered cognitive and behavioral development which may affect school performance. The finding of combined defects in heart and brain development highlights the need for careful neurodevelopmental follow-up and early intervention programs in patients with heart defects.  

These studies have therefore led to an improved understanding of how genetic variation influences outcomes (such as survival, school performance and exercise capacity) after heart surgery and how it affects each patient’s response to certain treatments or procedures.

The goal of this research is to develop a “personalized” treatment plan for each patient based on the genetic cause of their heart condition and their other personal or individual genetic traits. We hope to use genetic testing to help guide our care of each patient, identifying the medicines and treatments that will provide them the greatest benefit during development and during and after heart surgery.

For more information, please contact Dr. Mark Russell.

Regenerative medicine

Ming-Sing Si, MD, is leading a team exploring new treatment for children with heart failure.  Specifically, Dr. Si’s lab is researching the use of stem cells and tissue engineering in treating patients with advanced heart failure.

Stem cells have potent regenerative properties, and Dr. Si’s team is evaluating the use of these stem cells to help rebuild muscle and blood vessels in the failing hearts of children.  This research has the potential to one day eliminate the need for heart transplantation. The lab’s current focus is on identifying and purifying stem cell tissue with especially potent regenerative properties, and establishing optimal techniques for delivery of the stem cell tissue to optimize the regeneration of failing hearts.

For more information, please contact Dr. Ming-Sing Si.