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In the past five years Dr. Moens has developed the zebrafish as an in vivo tool for understanding the developmental basis of Joubert syndrome, which is characterized by a distinctive hindbrain malformation resulting in physical and intellectual disability. She and her group have generated mutants in zebrafish homologs of a number of Joubert genes and have studied their effects on development. Moens has been most successful in modeling the retinal defects of some Joubert patients in the zebrafish and has discovered that the Joubert protein Cc2d2a functions in vesicle trafficking toward the photoreceptor outer segment, which is a modified primary cilium. A long-term goal is to understand how defects in vesicle trafficking influence hindbrain morphogenesis.
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