About the Genetics of Orofacial Cleft Project
The Genetics of Orofacial Cleft Project is dedicated to the identification of genes and environment factors involved in orofacial clefts (e.g. cleft lip and palate). These birth defects are among the most common structural birth and impact 1 in 700 individuals worldwide.
Specific disorders addressed in this project are non-syndromic orofacial clefts (i.e., cleft lip and/or palate that occurs in isolation), syndromic forms of orofacial clefts, and other related disorders. A combination of statistical techniques coupled with molecular biology and genetic tools will allow us to identify genetic variants that may contribute to cleft formation.
Research
Nonsyndromic Orofacial Clefts
Nonsyndromic orofacial clefts are common birth defects. They can occur within families or sporadically and are thought to be caused by a combination of genetic risk factors and environmental exposures. Most of the causes of OFCs are unknown. We are now enrolling individuals and families with nonsyndromic cleft lip, cleft lip, and palate, or cleft palate into our study.
The goal is to discover genetic variants that increase the risk of clefting and its various subtypes.
Van der Woude Syndrome
Van der Woude syndrome (VWS) is the most common single-gene cause of orofacial clefting. Individuals with VWS have a cleft lip and/or cleft palate and/or lower lip pits. Mutations in IRF6 and GRHL3 cause VWS but 20% of individuals have no known cause. We are enrolling families diagnosed with VWS into our study to identify the remaining causes of VWS and to understand differences in severity among affected individuals.