The American Heart Association (AHA) awarded investigators at 麻豆学生精品版 $3.7 million to conduct collaborative research to prevent and treat congenital heart disease. U of U Health is one of four groups across the country to join the AHA's for children.
Martin Tristani-Firouzi, M.D., a clinican-scientist at U of U Health and Primary Children's Hospital, will be director for the Utah SFRN. He will also serve as primary investigator on the project together with Mark Yandell, Ph.D., a professor of human genetics and director of the USTAR Center for Genetic Discovery, and Angie Fagerlin, Ph.D., chair of population health sciences. Neurobiology and anatomy professor H. Joseph Yost, Ph.D., will serve as training director, and obstetrics and gynecology chair Robert Silver, M.D., will lead clinical research.
Congenital heart defects are the most common birth defect, affecting nearly 40,000 babies born in the United States each year. The condition often demands treatment within the first months after birth, and can impact patients for the rest of their lives. This research seeks to discover causes of to find new methods for prevention and treatment. Another major focus is to develop strategies for helping parents understand this information to better equip them for making decisions about their child's medical care.
"Understanding the root causes is crucial for designing measures to prevent, predict and even treat CHD," says Tristani-Firouzi. "Without knowing what causes the majority of CHD, we cannot design ways to prevent this disease or even effectively counsel families."
A Multidisciplinary Mission
Knowing that CHD is complex in nature, the project tackles congenital heart disease from multiple angles. "What makes this project so special is that it brings together experts from multiple disciplines, combining data scientists, genomics experts, clinicians, and population health scientists. In our case, the whole really is greater than the sum of its parts," says Yandell.
The computational group will leverage Utah's unique big data resources to uncover the genetic and environmental factors that cause CHD. By integrating electronic medical records with family history and demographic information from the , they will identify individuals who are most likely to have genetic cause for CHD. Using this pool of individuals, they will search for genetic markers that signal who is at risk for developing the disorder.
A clinician-led team will study the role of environmental factors causing CHD, specifically those that impact the intrauterine environment. The mother's placenta nourishes the developing fetus during pregnancy. Preliminary work shows that when a placenta does not function properly, the fetus may be at risk for developing heart defects. This team will investigate this relationship and uncover placental factors that lead to an unhealthy heart.
will create materials and develop methods so parents can understand their child's diagnosis, and the risks and benefits of all treatment options. The goal is to help them become active participants moving forward.
"We know that many parents often experience significant distress when making these decisions," says Fagerlin. "This project will result in better ways to involve parents, and to make this very difficult time in their life a little easier."
The three remaining AHA grants were awarded to research groups at the Children's National Health System in Washington, D.C., Northwestern University, and Duke University.
With the first total artificial heart transplant 35 years ago as a significant milestone, U of U Health has long been recognized for innovating new approaches to cardiac care. In recent years, U of U Health investigators have earned positions in several of the nation's leading heart initiatives. In addition to the SFRN for children, investigators participate in AHA's Heart Failure SFRN, and the National Institutes of Health Cardiovascular Development Consortium, Pediatric Cardiac Genomics Consortium, Pediatric Heart Network, and the Sudden Death in the Young Consortium.
- Written by Emily Sundquist and Mary Anne Karren