Image: Purkinje neurons in the zebrafish cerebellum

My current projects focus on elucidating pathological mechanisms linked to variants in transcriptional regulators that lead to cell fate anomalies and consequently to early malformations of the cerebellum and brainstem. To investigate these phenomena, we use zebrafish as an in vivo model system to study the developmental consequences of disease-causing variants. In collaboration with colleagues at the Institute, we are notably implementing cutting-edge genome editing technologies in zebrafish to faithfully recapitulate patient-specific variants. In parallel, we are developing and optimizing cerebellar organoid models to complement these approaches and provide access to human-specific developmental processes. 

Selected recent publications:

• Bertola, N., Blondiaux, E., Harion, M., Dorboz, I., Passemard, S., Mercier, S., Conrad, S., Cogné, B., Boyer, J., Uyttebroeck, S., et al. (2026). Dominant and recessive ATOH1 variants cause distinct neurodevelopmental disorders with hearing loss. Am. J. Hum. Genet. 113, 342–361. https://doi.org/10.1016/j.ajhg.2025.12.016.

• Coolen, M., Altin, N., Rajamani, K., Pereira, E., Siquier-Pernet, K., Puig Lombardi, E., Moreno, N., Barcia, G., Yvert, M., Laquerrière, A., et al. (2022). Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation. Am. J. Hum. Genet. 109, 909–927. https://doi.org/10.1016/j.ajhg.2022.03.010.

Team members:

• Benjamin Lepennetier, PhD student

• Joël Boivin, Engineer