Mag. pharm. Anna Magdalena Huber


Thesis title: Generation of functionally active neurons from fibroblasts derived from Rett syndrome patients via a non-integrating reprogramming strategy for in vitro protein replacement therapy

Thesis outline: The objective of my thesis is to develop and characterize a human neuronal cell culture model for Rett syndrome (RTT), a neurodevelopmental disorder mainly caused by mutations in the MECP2 gene encoding a crucial transcription factor of the same name. One promising and novel treatment approach for RTT would be the administration of recombinant MeCP2 protein. A patient-derived cell model could serve as an indispensable tool for investigating phenotype rescue through the delivery of a recombinant MeCP2 protein.

Supervisor & Co-Mentor: Franco Laccone, Christian Studenik