Grant awarded to Study Cardiovascular Malformations in Children

Houston – A $2 million grant has been awarded to Baylor College of Medicine and Texas Children’s Hospital to perform the first genome wide association study for hypoplastic left heart syndrome and other related cardiovascular malformations.

The grant was awarded by the National Heart, Lung, and Blood Institute in June 2008, and will be dispersed over a four year period.

“We began working on hypoplastic left heart syndrome more than a decade ago,” said Dr. John Belmont, professor of molecular and human genetics and pediatrics and principal investigator for the BCM/Texas Children’s study. “The genome wide approach is something that we anticipate will lead to major new insights into the causes of cardiovascular malformations.”

Hypoplastic left heart syndrome is a severe cardiovascular malformation in which the left side of the heart is underdeveloped. About 1,000 infants are born with the disorder each year. More than 3,000 children are born each year with related cardiovascular malformations.

“Surgical and medical management has reduced the mortality rate for congenital heart defects, but hypoplastic left heart syndrome remains a problem,” Belmont said. “It has been thought for some time that genetic factors play a major role in heart defects, but it has been difficult to apply standard genetic techniques to the problem.”

The genome wide association study is a new method that will allow a survey of the entire genome for common genetic variants that may influence human diseases.

Other researchers collaborating on this study include Dr. Jeffrey Towbin, professor of pediatrics at BCM and chief of cardiology at Texas Children’s, Dr. Suzanne Leal, professor of molecular and human genetics at BCM, Dr. James Lupski, professor and vice chair of molecular and human genetics at BCM, and Dr. Kim McBride, Center for Molecular and Human Genetics, Nationwide Children’s Hospital, Ohio State University.

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