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URMC part of major heart disease study

Rochester, N.Y. -- Local scientists are part of a unique study that may help doctors better handle congenital heart disease.

“This may allow us to look at the interaction of genes in the environment and how it causes congenital heart disease,” said Dr. Robert Porter, Assistant Professor of Pediatrics at URMC.

Scientists have identified a group of gene mutations that may be responsible for up to 10 percent of complex congenital heart defects, according to URMC.

Congenital heart defects affect nearly one percent of births per year, according to the Centers for Disease Control and Prevention. The defects are also a leading cause of infant death.

The findings were published in the June edition of the medical journal, Nature, according to Porter.

“It may help guide how we treat the patient, how we do surgery, and what medicines we give them,” explained Porter.

Porter’s team has been working on the study since 2010, though it includes 11 other institutions such as Children’s Hospital in Boston, Yale University and the Children’s Hospital of Philadelphia, among others.

The group has recruited 6,000 patients, but will need at least 10,000 to have the data needed to complete the study. It may take nearly three more years before the study concludes, according to Porter.

Applying the research to patients may be years away, but Porter said this is considered an important step.

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Washington Times