Pr Valérie Cormier-Daire

Service Génétique Clinique, CRMR MOC

Université Paris Descartes
Institut Imagine, Hôpital Necker-Enfants Malades

Professor Valérie Cormier-Daire trained as a pediatrician and joined the hospital Necker Enfants Malades and Paris Descartes University as a Fellow in Genetics in 1993. She obtained her PhD degree in1993. She completed one year in the international skeletal dysplasia registry headed by Professor Rimoin in Los Angeles in 1999. She was nominated Professor of Genetics in Paris Descartes University since 2005 and mainly focused on skeletal dysplasia. She created a specific academic training course in this field (university diploma) for medical students on ‘Rare Disorders’.

Her research has been dedicated to the understanding of the physiopathological bases of skeletal dysplasia (from bench to bedside). In the last ten years, she has identified 25 genes encoding proteins of various functions involved in ciliogenesis, proteoglycan synthesis and also in TGFβ signaling pathway and microfibrillar network (SMAD4 in Myhre syndrome and ADAMTSL2, LTPB3 and FBN1 in other acromelic dysplasia). To further investigate their functions and develop novel therapeutic approaches, specific cellular and mouse models have been generated which are currently under study.

Her positions presently are: Head of the Genetic Clinic Unit and Head of the French Reference Center for Skeletal Dysplasia in Necker Enfants Malades Hospital; Head of a research team working on the molecular and physiopathological bases of osteochondrodysplasia at INSERM Unit UMR1163 (since 1999) in Imagine Institute, Paris.

She is a member of the steering committee of the ERN BOND. Her track record includes 410 publications and two patents. She is partner in six industrial projects on clinical trials.