SEMINAR: Phenotypic characterization of a murine model for McArdle disease and therapeutic approaches

Astrid Brull Canagueral studied Biochemistry at Universitat Autonoma de Barcelona. Astrid then studied a Biochemistry & Molecular Biology Masters degree at the same university. After finishing her Masters degree, Astrid started her PhD studies entitled 'Phenotypic characterization of a murine model for McArdle disease (pR50X) and gene therapy using AAV vectors with the aim of restoring muscular glycogen phosphorylase activity' at the Vall d'Hebron Research Institute (VHIR) in Barcelona. Astrid is currently carrying out a six-month training period in the Neurogenetics Laboratory at the Harry Perkins Institute of Medical Research, working with Dr. Kristen Nowak and Professor Nigel Laing AO with the novel McArdle disease mouse model she has helped characterize. Astrid is attempting to develop a therapeutic approach using CRISPR/Cas9 system with the aim of correcting the pR50X mutation.