research : disease studies

Genetic Analysis of Heart Defects

Birth defects appear in about 1 in 33 babies. Most birth defects are caused by a complex mix of factors including genetic, environmental and lifestyle factors. For the most part, these factors are not understood and it is rare to see many babies born with the same birth defect. In order to combine efforts and increase the capacity of state programs to carry out research on the etiology of birth defects, special centers were set up in different regions of the country to collect phenotypic information and biological materials from children with birth defects and their parents. The CDC has established centers in states with existing birth defect programs that have nationally recognized expertise in birth defects surveillance and research. All centers work together on the National Birth Defects Prevention Study (NBDPS).

The NBDPS is one of the largest case-control studies ever done on the causes of birth defects. Case mothers are women who have had babies or pregnancies affected by birth defects and control mothers had babies with no birth defects. The goal for each center is to talk to 300 case mothers and 100 control mothers per year. The study has three parts: 1) specialized doctors review all cases, 2) talk to the mothers, and 3) collect cheek cell samples from the families. This research will increase our understanding of the causes of birth defects and provide information that can be used to prevent birth defects.

As part of the NBDPS, our local lab is investigating the etiology and pathogenesis of malformations of the heart, concentrating on abnormalities of the left side of the heart and outflow tract defects. The specific research strategy is to identify gene variants that influence risk for heart malformations, especially gene variants causing Mendelian heart malformation disorders, and subsequently compile and analyze the clinical findings in these patients and their families in order to explore the relationship between specific gene mutations (i.e., genotype) and clinical characteristics (i.e., phenotype).

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