Joël Rousseau

This paper evaluates the efficiency of prime editing to correct the Ryr1 T4706M mutation in myoblasts, achieving 80% editing efficiency in immortalized cells and 37% in primary cells.

The paper describes engineering Cas12a to enable PAM-free, ultra-specific detection by splitting the target DNA duplex and improving structural selectivity and nucleotide specificity.

The paper shows that the A673T mutation in the APP gene reduces Aβ peptide production in neuroblastoma cells, potentially offering a gene therapy approach for Familial Alzheimer's Disease.

The paper evaluates base editing and PRIME editing techniques to introduce specific mutations in genes associated with Alzheimer's and Duchenne Muscular Dystrophy, assessing their efficiency in cell lines and potential therapeutic impact.

This study demonstrates that SaCas9-mediated deletion restores dystrophin expression in DMD patient-derived myoblasts and in vivo in a mouse model.