Jacques P. Tremblay

Prime Editing Enables High-Efficiency Correction of the Ryr1 T4706M Mutation: A Promising Therapeutic Approach for RyR1-Related Myopathies

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.

Split Cas12a protospacer engineering enables ultra-specific, PAM-free detection

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.

Protective mutation A673T as a potential gene therapy for most forms of APP Familial Alzheimer's Disease

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.

Specific mutations in genes responsible for Alzheimer and for Duchenne Muscular Dystrophy introduced by Base editing and PRIME editing.

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.

CRISPR-induced deletion with SaCas9 restores dystrophin expression in dystrophic models in vitro and in vivo.

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