For researcher Benoit Bruneau, working to help children with congenital heart defects is deeply personal.
It was already his life's passion before it truly hit home two years ago, when his daughter was born with a ventricular septal defect, a tiny hole in the wall separating the lower chambers of the heart.
"My purpose is very clear: Find out how genetic heart defects occur, then uncover new and improved therapeutic options to treat them," said Bruneau, who heads a lab of 11 scientists at the Gladstone Institute of Cardiovascular Disease in San Francisco.
Now, thanks to a $2 million gift from the Lawrence A. and Florence J. De George Charitable Trust in Florida, Bruneau and his team can step up their already feverish pace of inquiry. The gift, made to the association's Greater Southeast Affiliate, covers an AHA Established Investigator Award that will provide Bruneau $100,000 a year for five years.
"The American Heart Association understands the importance of research and they are always looking out for those of us in the field," said Bruneau, whose father and uncle both suffered heart attacks before their mid-40s. "They had already determined that my research merited Established Investigator support, but the funds weren't there. When the De George Trust announced this gift, they expressed a specific interest in funding pediatric research. The AHA contacted me and took the steps to bring me into contact with the Trust so I could present my work."
Last year, Bruneau discovered the genetic link explaining the evolution of three-chambered amphibian hearts to four-chambered human hearts. Published in the journalNature, the study explained the role of the protein Tbx5 in the embryonic formation of hearts. When Tbx5 is present throughout the entire heart, as in amphibians, three chambers form. When restricted only to the left side of the heart, as in humans, four chambers result.
"With some congenital heart defects, there are irregularities in the amount of Tbx5," Bruneau said. "We hope this knowledge will help us gain new insights into the processes that go wrong in heart formation."
In addition to last year's groundbreaking study, Bruneau's team has used gene manipulation to create mouse models of heart defects and has detected mechanisms to "turn off" defective genes. They also discovered a combination of proteins and transcription factors with the potential to generate new beating heart tissue in mice.
With a Ph.D. from the University of Ottawa and postgraduate training at Harvard Medical School, Bruneau says he was interested in biology as early as grade school. He narrowed his focus to heart disease after his father and an uncle had their heart attacks.
"Biological research constantly presents opportunities to learn something that no one knew before. I live for those opportunities," he said.
Yet for Bruneau, no laboratory discovery will ever eclipse the joy that came recently when his daughter's ventricular septal defect closed up spontaneously.
"She is one of the lucky ones, because she didn't require surgery to close it," he said. "When she was born it really hit me and my wife that heart defects can happen to anyone, and for no known reason. We still know so little about heart defects. The more I learn, the more it amazes me that our hearts come together correctly most of the time. It's such a complex organ, and everything needs to be put together perfectly."
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