Wednesday, June 24, 2009
Stephanie Ware, MD, PhD, was awarded a prestigious Burroughs Wellcome Fund Clinical Scientist Award in Translational Medicine grant to help bridge medical research from "the bench to the bedside." The five-year, $750,000 grant will allow Dr. Ware, a physician-scientist at the Cincinnati Children's Heart Institute, to explore the genetic causes of heterotaxy and how it relates to congenital heart defects.
Heterotaxy is when the body fails to establish a proper right and left side, which can affect the heart and other organs.
"As the heart forms, it follows a blueprint. It needs to know its left from its right side to develop properly,” says Dr. Ware. “The heart is particularly sensitive to not having this information. The anatomy in heterotaxy is some of the most complicated cardiologists see."
Heterotaxy is present in about three percent of children with congenital heart defects, but loss of left- and right-sided information likely causes other heart defects as well. Ware says physicians can identify the precise genetic cause in less than 10 percent of children with heterotaxy.
Already 1,500 DNA samples from patients with heterotaxy and their parents have been collected in collaboration with Baylor College of Medicine; no one else in the world has this sample set. The grant will allow Ware to perform genetic analysis on each sample and probe deeper into the specific genes that might affect heart development.
"We're looking for very small chromosome abnormalities -- loss or gain of one or more genes," says Ware. "We want to find genes that have never before been known to affect heart development and prove it. Then, we'll have a novel cause of heterotaxy in patients that we can screen for. It's hard to anticipate what you might be able to provide in terms of therapy or prevention when you don't know what is causing the problem."
Dr. Ware was one of four scientists in the nation to receive a Burroughs Wellcome Fund Award this year.
Cincinnati Children's Hospital Medical Center is one of America’s top three children’s hospitals for general pediatrics and is highly ranked for its expertise in digestive diseases, respiratory diseases, cancer, neonatal care, heart care and neurosurgery, according to the annual ranking of best children's hospitals by U.S. News & World Report. One of the three largest children’s hospitals in the U.S., Cincinnati Children’s is affiliated with the University of Cincinnati College of Medicine and is one of the top two recipients of pediatric research grants from the National Institutes of Health.
For its achievements in transforming healthcare, Cincinnati Children's is one of six U.S. hospitals since 2002 to be awarded the American Hospital Association-McKesson Quest for Quality Prize ® for leadership and innovation in quality, safety and commitment to patient care. The hospital is a national and international referral center for complex cases, so that children with the most difficult-to-treat diseases and conditions receive the most advanced care leading to better outcomes.