Modeling of Pompe Disease using Induced Pluripotent Stem Cells for the Development of Novel Therapies

Abstract

The modeling of human disorders is often performed using heterologous cells or mouse models. Human and cell type-specific models will help in a better understanding of cellular pathology, provide a platform for high throughput screening and might provide proof of principle studies for regenerative therapy. The aim of this thesis is to generate an induced pluripotent stem cell model for Pompe Disease and use this model for the investigation of molecular mechanisms and the development of novel therapies