Dysferlin Gene Transfer

Isabelle Richard, PhD

Généthon (Evry, France)

Dr. Richard is the Research Director at the CNRS and the Head of the "Limb-Girdle Muscular Dystrophies" lab in Généthon (Evry, France).

Past Projects

Objective: 
Explore different ways to transfer the dysferlin cDNA in muscle of animal models

This project focuses on optimizing the efficiency of dysferlin gene transfer via AAV vectors. This work will include: a comparison of gene transfer between local/regional and systemic injection in mice and primates); definition of the best AAV serotypes for AAV concatemerization; transfer of the construct in baculovirus with codon optimization of the dysferlin cDNA; definition of a rapid therapeutic predictive test and in vivo comparison of alternative strategies; test injury models using forced eccentric exercise with downhill treadmill running and the large strain injury model developed by Dr Bob Bloch; evaluating the secretive capacity of skeletal muscle using a mSeAP assay.