Malformations of the central nervous system in Ciliopathies

Malformations of the central nervous system in Ciliopathies
Theme: Neurodevelopmental disorders

Tuesday 25th April, 09:30 – 11:10

Primary cilia which consist of a basal body and an axoneme are non motile and function as a sensory organelle. They play a key role in transducing signalling pathways and in cell cycle progression. Mutations in genes which lead to loss or abnormal primary cilia lead to developmental disorders referred to as collectively as Ciliopathies. These are rare disorders. These developmental disorders affect many organs including the brain. In the brain, signalling through the primary cilia is important for early patterning, neurogenesis, neuronal maturation and survival. In many ciliopathies, defective development of the cortex, hippocampus and cerebellum are seen. In this symposium , the four talks will cover CNS malformations/defects arising from mutation in cilial genes and also how primary cilia play a role in neurogenesis. The talks will illustrate the use of model organisms and the applications of a  variety of approaches such as imaging and molecular techniques to study malformations/defects of the central nervous system due to aberrant primary cilia function.

  • Sylvie Schneider Maunoury, Institut de Biologie Paris Seine (IBPS) , Sorbonne University, France: An organoid approach of neurodevelopmental defects in neural ciliopathies 
  • Vasanta Subramanian, University of Bath, UK: Role of the basal body protein Talpid3 in Brain Development-implications for Joubert syndrome (co-chair)
  • Raman Das, Faculty of Life Sciences, University of Manchester, UK: Dynamic modulation of the cell signalling response by primary cilium remodelling during vertebrate neuronal differentiation​ (co-chair)
  • Colin Johnson, Faculty of Biological Sciences, University of Leeds, UK: Neurodevelopmental defects in severe ciliopathies: insights from gene discovery and functional genomics

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