Jean-Marc Gallo

Research Interests

Our current work is focused on the role of RNA processing in neurodegeneration and we also have a long-standing interest on the cytoskeleton. A particular focus of our work is on the pathomechanisms of diseases caused by a large GGGGCC repeat expansion in the C9orf72 gene. We are using unbiased genome-wide strategies and mathematical tools to perform systems level analyses to unravel how the C9orf72 repeat expansion leads to interactome perturbation. We have applied the spliceosome-mediated RNA trans-splicing technology to correct aberrant alternative splicing of tau in mouse models of tauopathies. The ability to reprogram alternative splicing has far reaching implications for the treatment of neurodegenerative and other neurological disorders linked to impairment of RNA processing

Most significant discovery

We were the first to show that hexanucleotide expansions in the C9orf72 gene led to retention of the repeat-containing intron, explaining the main pathological signatures of C9orf72-linked ALS/FTD. This was subsequently demonstrated to be a general mechanism of repeat expansion disorders and opens the way to novel therapeutic strategies.

Educational Interests

• Neurodegeneration
• RNA biology
• PhD supervision
• MSc project supervision

Top 4 Publications

• Rodriguez-Martin T. et al. (2005). Proc. Natl. Acad. Sci. USA 102: 15659-15664.
• Niblock M. et al. (2016). Acta Neuropathol. Commun. 4: 18.
• Espíndola S.L. et al. Cell Rep. 23: 709-715.
• Gallo J.-M., Edbauer D. (2022). Science

Methods / Expertise

• RNA analysis
• Protein chemistry
• Network analysis