Motoneuron diseases INSERM/UEVE UMR 861, I-STEM, AFM Genopole Campus 1 5 rue Henri Desbruères 91030 Evry cedex Tel +331 6990 8587/8533 Fax +33 1 6990 8521 cmartinat@istem.fr Laboratory Website Using pre-implantation genetic diagnosis derived human embryonic stem cell lines (hES) or human induced pluripotent stem cells carrying the causal mutation for neuro-muscular diseases, our objective is double: identify new physiopathogical mechanisms and develop new therapeutic strategies. We demonstrated the proof of this concept by identifying new genes participating to the Myotonic Dystrophy type 1 (DM1) pathogenesis. In parallel, a molecular screen, based on siRNA, permitted to identify a new molecular pathway that can correct some DM1 pathological phenotype.
28 Rue Henri Auguste Desbruères, Corbeil-Essonnes, France
