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Understanding Cerebellar Development and Disease

Our research focus is the cerebellum. © © Scientific American
Our research focus is the cerebellum.

Welcome to the CEREBELLAR DISEASE Group!

We are interested in discovering the genes and biological mechanisms that regulate the development of the cerebellum and in exploring how the impairment of these mechanisms leads to cerebellar diseases.

The cerebellum is well-known as the primary centre of motor coordination and learning in the central nervous system. However, increasing evidence suggests a much wider function for the "little brain", including in higher cognitive functions such as language, emotion and social reward processing. We understand surprisingly little about the molecular processes that underlie the formation of the cerebellum and that, when disrupted, lead to disease. The goal of our research is to provide fundamental insights into the genetic, molecular and cellular mechanisms that govern the development and different diseases of the cerebellum.

One of the diseases that we are very interested in is cerebellar ataxia. Together with collaborators, we have identified the first dominant gene mutations in Spinocerebellar Ataxia type 41 (SCA41) and Spinocerebellar Ataxia type 44 (SCA44). Our earlier work characterized the ataxic Moonwalker mouse model. Ongoing studies focus on elucidating the role of aberrant mGluR1-TRPC3 signaling in cerebellar ataxia and how this could be exploited therapeutically.

Moreover, our group is one of the few laboratories worldwide who have developed a robust and reproducible method to generate cerebellar neurons and organoids from human induced pluripotent stem cells (iPSCs).  This exciting technology allows us, for the first time, to study the development and function of human cerebellar neurons in the dish using available cells from healthy people as well as patients with cerebellar disorders. Recently, we have used this methodology to model the paediatric tumour medulloblastoma (see Van Essen et al 2024)

Together, our work provides a more rigorous understanding of the genes and pathways behind cerebellar diseases. We hope that our findings will ultimately help to inspire improved clinical treatments for patients.

Our team

Recent Publications