Positions by 99Science

Project title: Unravelling the molecular and neural mechanisms underlying nystagmus pathogenesis using Drosophila models

Project Highlights:

1. Clinical-informed interdisciplinary research on nystagmus pathogenesis
2. Innovative high-throughput Drosophila models of infantile nystagmus
3. Novel investigation of the interaction between sleep and vision disorder

Nystagmus is disorder characterised by involuntary eye movements often linked to visual impairment. Intriguingly our recent studies indicate sleep disorders among nystagmus patients. Genetic mutations leading abnormal eye and brain development are thought to cause nystagmus. Recent advances in sequencing techniques have allowed us to identify many nystagmus-associated genes (NAGs). Nevertheless, how mutations in NAGs contribute to developmental defects and the potentially sleep abnormality remain unclear. By combining expertise in ophthalmic genetics (Dr Mervyn Thomas), and Drosophila sleep neurogenetics (Dr Ko-Fan Chen) and neurodevelopment (Prof. Flaviano Giorgini and Dr Matthias Soller) across research laboratories at Universities of Leicester and Birmingham, this PhD project aims to utilise the fruit fly, Drosophila, as a high-throughput experimental model to investigate the novel developmental functions and the potential sleep regulatory roles of a panel of evolutionarily conserved NAGs in the fly. Using sleep questionnaire, the potential sleep disorder in nystagmus patients will be verified.

The project provides an exciting unique opportunity for the PhD student to gain research skills in a clinical setting, and to obtain expertise in Drosophila genetics, the latest video-based sleep monitoring techniques, transmission electron microscopy, and confocal immune-imaging. The results will provide important insights into the pathogenic roles of NAG mutations as well as clarify the basis of sleep disorder in nystagmus.

For more detals about the project, please see

For informal enquiry please email to kc280(a)leicester.ac.uk

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