Projects on orofacial rare diseases is led by Claire Bardet (PR) and Martin Biosse Duplan (PUPH-DDS).

This group is interested in rare diseases of genetic origin, which manifest at the level of the orofacial sphere. This very strong theme studies the oro- and cranio-facial anomalies of patients with genetic diseases affecting mineral metabolism (Hypophosphatemia with excess of FGF-23, Hypophosphatasia, Primary hypoparathyroidism, Pseudohypoparathyroidism, Familial hypomagnesemia, HELIX syndrome, ectopic calcifications …), constitutive bone diseases (osteogenesis imperfecta, achondroplasia…), or rare diseases specific to the oral sphere (non-syndromic amelogenesis and dentinogenesis imperfecta, non-syndromic oligodontia). This theme contribute to a better understanding of developmental and mineralization anomalies within the orofacial sphere.

The projects are carried out in close collaboration with the rare disease networks OSCAR and TETE COU (CRMR calcium and phosphate metabolism and CRMR O-Rares), combining both fundamental and clinical expertise ranging from patient cohorts to preclinical models, and all the necessary tools (molecular diagnosis, patients’ cells and tissues banks, animal models, etc.). The projects shed unique light on 1) how pathogenic variants create metabolic disorders and local dysfunction of oral calcified tissues (enamel, dentin, cementum, alveolar bone) and 2) how correction of the underlying pathophysiological mechanisms allows the development of new therapeutic strategies (gene therapy, mono-clonal antibodies, replacement enzymes, etc.).