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.
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