Project 459006

Non-syndromic or isolated cleft lip and palate (NSCL/P) is among the most common congenital birth defects. Clefts, that appear as gaps in the upper lip and/or the roof of the mouth (palate), occur in 1 in every 700 live births on average in Canada. According to 2013 birth surveillance data by the Public Health Agency of Canada orofacial clefts are second in frequency to congenital heart defects. The treatment of clefts involves a series of surgeries starting in infancy and carrying on until adulthood. Expensive and complex dental care is needed to restore function and esthetics. It is a priority to find ways to prevent such congenital anomalies. NSCL/P is caused by variations in many genes, combined with environmental factors. It is, therefore, difficult to find one way to prevent the disorder. In addition, severity of clefting is highly variable and is impossible to predict. Thus, more research is needed on the fundamental mechanisms of lip fusion. My project will use the easily accessible chicken embryo to study lip fusion. I am going to study the interaction of human genes that contribute to increased risk of clefting with key growth factors that we know are required for lip fusion. In addition, The Richman lab in the Faculty of Dentistry at UBC has recently developed novel methods to directly study the embryonic face as development is taking place. I will use these advanced live imaging techniques to visualize lip fusion in real time. These combined studies will more closely model the complex situation in human lip fusion and will provide new insights into which pathways can be targeted with drugs in the future. The results of our studies will improve our understanding of facial development and will aid in the improvement of prevention strategies that will reduce the burden of care experienced by individuals born with a cleft.