Research Projects in Medical Sciences

Multigenic Dissection of Nonsyndromic Oral Clefts

Faculty: Rachel Badovinac Ramoni, DMD, ScD
Funder(s): NIH/National Institute of Dental and Craniofacial Research

Cleft lip and/or cleft palate are among the most common birth defects and have serious physical, psychological, and financial consequences for those affected. Nevertheless, little is known about the causes of these anomalies because clefts are the result of genetic and environmental risk factors, rather than a single factor. This research has the potential to make a unique contribution to our understanding of clefts, as it employs novel analytical approaches that allow the simultaneous examination of many potential risk factors.

Using DNA from mothers and infants enrolled in a large-scale birth defects surveillance study, Dr. Badovinac-Ramoni is investigating the multigenic origins of nonsyndromic oral clefts (NOC) using a novel application of Bayesian networks, a proven analytical approach. First, she will identify and validate the most probable network linking the phenotype of isolated NOC to the candidate maternal and subject single nucleotide polymorphisms and environmental exposures among the majority race/ethnicity.

Second, Dr. Badovinac-Ramoni will validate two approaches to phenotyping nonisolated NOC. Finally, she will determine whether the model(s) generated in the first two analyses can be generalized to minority race/ethnicity groups. As the first investigation to concurrently consider the candidate environmental exposures and SNPs in several candidate genes previously associated with NOC in association studies, this work has the potential to move the study of NOC dramatically forward.