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MRSU 933 – Genetic diseases of pediatric expression

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Supervisorbodies

Two supervisorbodies :
INSERM and Sorbonne University

The research unit lnserm/Sorbonne Université UMRS933 was created in 2005 and articulates its research activities around 3 groups of genetic diseases : autoinflammatory diseases, pulmonary diseases (primary ciliary dyskinesia and idiopathie pulmonary fibrosis) and certain developmental diseases (growth retardation, syndromic intellectual disability and sexual development). The objectives are to identify the molecular and cellular bases of these disease conditions and based on the elucidation of the pathophysiological mechanisms involved, to open new therapeutic avenues. Fundamental and translational research profits from a privileged collaboration with the hospital’s molecular diagnostics lab and the national reference centres for these diseases.

Contact

Director
AMSELEM Serge
+ 33 1 44 73 52 39

Communication
Claire POUHYET
Phone : +33 1 44 73 52 39
claire.pouhyet@inserm.fr

Address
Hôpital Trousseau
Bât. Ketty Schwartz
26, avenue Arnold Netter
75571 – Paris Cedex 12

Mail
claire.pouhyet@inserm.fr

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