For over a century, mice have been the predominant model of human cerebellar development, function, and dysfunction. Yet mice are not human. We discovered species differences in cerebellar neurogenesis which shift several of prior mouse-centric paradigms of the origins of human cerebellar disorders. We have identified human rhombic lip progenitors as the previously unknown cells of origin for the most aggressive and common forms of medulloblastoma. Our analyses or mid-gestation human cerebellar malformation cases clearly demonstrate that the human RL is central to the developmental pathology of the most frequent cerebellar birth defects. We continue to use an interdisciplinary approach to study both normal and abnormal human cerebellar development using spatial transcriptomics, in vitro human stem cell and humanized mouse models. By integrating data from both human and mouse studies, we aim to synergistically advance our understanding of cerebellar development, function, and dysfunction, ultimately enhancing the potential for translational breakthroughs.
Organizer
Catarina Osorio
c.osorio@erasmusmc.nl