Orofacial development

Genetics of orofacial and tooth development and pathology

Neural crest cells contribute to the development of the facial primordia and teeth. Teeth are the highest mineralized organs of the body. Development of teeth relies on a series of reciprocal inductive interactions between the oral epithelium and the cranial neural crest-derived mesenchyme. A large number of syndromes and a number of non-syndromic inherited conditions are known to be associated with orofacial disorders. Genetic studies in humans and mice have identified mutations in genes that affect the number, size and morphology of the teeth, as well as dental structures such as enamel. In spite of information at the genetic and phenotypic level, only limited information exists on the molecular control that regulates the different steps of enamel formation and maturation. Amelogenesis imperfecta is a term denoting generalized hereditary defects of enamel formation not associated with other major developmental defects. Despite the credible advances in genetics, the molecular and cellular mechanisms of the different steps leading to the generation of amelogenesis imperfecta are not yet known. The elucidation of these molecular mechanisms is crucial in order to design new therapeutic approaches to prevent and treat enamel defects in humans.

Transgenic analyses in mice are carried out in our laboratories to determine the temporal and spatial requirement of involved genes in orofacial and tooth development, pathology and regeneration. Notch1, Notch2, Jagged1, NogoA, Fam20A, and Adam10 mouse mutants are under investigation.

Research staff

Thimios Mitsiadis, Prof. DDS, PhD

Lucia Jimenez-Rojo, Oberassistent, PhD

Pierfrancesco Pagella, PhD candidate

Anna Filatova, PhD candidate

Despoina Natsiou, PhD candidate