Chai. Integrated research of functional genomics and craniofacial morphogenesis

We propose to integrate our research in functional genomics and craniofacial morphology/dysmorphology within the FaceBase Consortium. Specifically, we will focus on the development of the mandible and maxilla. Congenital malformations involving these facial bones significantly impact quality of life because our face is our identity. For example, mandibular dysmorphogenesis ranging from agenesis of the jaw to micrognathia is a common malformation and appears in multiple syndromes. Micrognathia not only presents as a facial deformity but can also cause cleft palate and airway obstruction, such as in Pierre-Robin sequence. The maxilla contributes to mid-facial formation. Maxillary hypoplasia is often associated with cleft palate and has been described in more than sixty different syndromes. Despite their importance, the mechanisms that regulate facial bone development are relatively uncharacterized. This is a significant gap in our knowledge and an important opportunity to generate invaluable resources for the research community. This work is a logical progression from our previous spoke project within the FaceBase Consortium on palatal development. Over the past five years, we have deposited nearly 200 hard and soft tissue scans and 125 microarray gene expression datasets in the FaceBase Hub. Building on our experience and in alignment with RFA-DE-14-004, we propose to investigate facial bone development and malformations.