The interest of our orthodontics and craniofacial biology research group is mainly on disrupted craniofacial and orofacial development. The focus is on orofacial clefting (OFC) and hypodontia (HYPOD), i.e. the absence of development of one or more teeth. Although OFC and HYPOD are among the most common birth defects, much is to be learned about the underlying molecular and cellular mechanisms involved, as it is estimated that only 10% of the common cases of OFC and HYPOD is yet explained by genetic defects. A large number of currently unknown genes may contribute to both phenotypes. Insight into the genetic causes of these developmental disorders will not only refine the diagnosis and improve counseling and care for the patients, but will ultimately lead to prediction and prevention of these defects through personalized medicine. We use state-of-the-art functional genomics approaches to identify novel genetic causes in coding regions as well as in non-coding regions of the DNA. For the latter we have a close collaboration within NCMLS theme 6 to systematically analyze DNA binding sites of the transcription factor p63, a master regulator of ectodermal development, including orofacial development,in casupalatogenesis and odontogenesis. For these genetic studies we are creating a large collection of material from OFC and HYPOD patients and their families. In addition, we use patient material and material from animal models to get insight into the molecular and cellular mechanisms that underlie the abnormal developmental processes in palatogenesis and odontogenesis.
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