Valérie CORMIER-DAIRE

Bases physiopathologiques des dysplasies squelettiques

Publié le 14.04.2026

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Les maladies osseuses constitutionnelles peuvent affecter la formation de l'os et/ou du cartilage du développement foeto-embryonnaire précoce à l'enfance. Le développement du squelette est un processus très finement régulé au cours du temps par un réseau complexe de gènes et qui se déroule via deux mécanismes d'ossification distincts, à savoir l'ossification membranaire et l'ossification endochondrale. Une altération de ce processus est responsable d'un groupe de pathologies rares et souvent sévères : les ostéochondrodysplasies.

Les buts de notre recherche est de contribuer à la compréhension du processus d'ossification par :

Identifier les bases moléculaires des ostéochondrodysplasies, en étudiant de larges cohortes de patients bien décrites sur le plan clinique grâce au centre des références des maladies osseuses constitutionnelles.
Développer des nouvelles approches thérapeutiques pour les pathologies liées à une fragilité osseuse en utilisant des ostéoblastes humains et des modèles murins.
Caractériser le défaut de synthèse des protéoglycanes dans les dysplasies à luxations multiples, en utilisant des modèles cellulaires et murins.
Comprendre le lien entre les protéines de la famille des ADAMTS(L), le réseau microfibrillaire associé, la voie de signalisation du TGFb et les processus d'ossification, en comparant des modèles cellulaires et murins présentant des phénotypes de petite et de grande taille.

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Valérie CORMIER-DAIRE

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