On Wednesday 7 July 2021, P. Herrero Hernández will defend his PhD dissertation, entitled: ‘Engineering Human iPSC-derived Skeletal Muscle to Model Pompe Disease; Towards novel gene and regenerative therapies’.
- Promotor
- Co-promotor
- Date
- Wednesday 7 Jul 2021, 10:30 - 12:00
- Type
- PhD defence
- Space
- Professor Andries Querido room
- Building
- Education Center
- Location
- Erasmus MC
Pompe disease is a severe metabolic myopathy caused by disease-associated variants in the acid alpha-glucosidase (GAA) gene resulting in intralysosomal accumulation of glycogen. Patients benefit from enzyme replacement therapy (ERT) which consists of intravenously applied recombinant human GAA enzyme. ERT greatly improves the prognosis of Pompe disease patients. However, the variation in treatment outcome, the high dose and life long weekly/biweekly infusions required, and the high costs encourage researchers to improve the
understanding of skeletal muscle disease and search for alternative and next generation treatment options. This thesis includes studies on the molecular mechanisms inducing skeletal muscle pathology in Pompe disease and elaborates on novel treatment options based on gene-editing tools and antisense oligonucleotides using human induced pluripotent stem cells (hiPSCs).
Due to corona, the PhD defences do not take place publicly in the usual way in the Senate Hall or in the Professor Andries Querido Room. The candidates will defend their dissertation either in a small group or online.
