Exon skipping as a therapeutic strategy for dysferlinopathy

Marc Bartoli, PhD and Martin Krahn, MD, PhD

Université de la Méditerranée (Marseille, France)

Dr. Bartoli is a CNRS researcher and the Co-Head of Translational Myology team at the Faculty of Medicine Timone Aix Marseille Université, INSERM UMR_S910 research unit (Marseille, France). Dr. Krahn is an Associate-Professor in Prof. Nicolas Lévy's labs: Laboratory of Molecular Genetics in the Department of Medical Genetics at the Children's Hospital La Timone; and the Co-Head of Translational Myology team at the Faculty of Medicine Aix Marseille Université, INSERM UMR_S910 research unit (Marseille, France).

Past Projects

Objective: 
The present project is aiming toward the clear objective of obtaining important preclinical information towards developing exon skipping as a therapeutic strategy in targeted cases of dysferlinopathies by:

(1) Characterizing a KI mouse model carrying an exon 32 nonsense mutation.

(2) Evaluating the functionality of exon 32 skipping in a living animal.

(3) Extending the exon skipping strategy to the entire C2D domain (comprising exon 32, and in addition exons 31, 33 and 34) using a multiple exon skipping approach.