Valérie Cormier-Daire

Professor Valérie Cormier-Daire is Professor of Genetics at Paris Descartes University, France. She is Head of the Genetic Clinic Unit and the French Reference Centre for Skeletal Dysplasia in Necker Enfants Malades Hospital. Since 1999, she has led a research team working on the molecular and physiopathological bases of osteochondrodysplasia at INSERM Unit UMR1163, Imagine Institute, Paris. She obtained her PhD in 1993, and in 1999 she completed one year in the International Skeletal Dysplasia Registry headed by Professor Rimoin in Los Angeles. She created a specific academic diploma course in the field of skeletal dysplasia, as well as a course on rare diseases for medical students.

She has published over 410 publications and is a partner in six industrial projects. Her research has been dedicated to the understanding of the physiopathology of skeletal dysplasia. In the last ten years, she has identified 25 genes encoding proteins involved in ciliogenesis, proteoglycan synthesis and also in the TGFβ signalling pathway and microfibrillar network (SMAD4 in Myhre syndrome and ADAMTSL2, LTPB3 and FBN1 in other acromelic dysplasia).