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Supervisors

• Dr Mervyn Thomas  mt350@le.ac.uk
• Dr William Norton
• Dr Ko-Fan Chen

Project

Infantile Nystagmus (IN) is a visually debilitating condition affecting thousands of children globally, causing involuntary rhythmic eye movements and impaired vision. This condition profoundly impacts everyday life, educational achievements, and emotional well-being, yet current treatments remain limited and ineffective for many patients.

At the Â鶹ÊÓƵ, we have pioneered genetic insights into IN, identifying the role of FRMD7 (Tarpey P et al. 2006, Thomas MG et al. 2011) and leading the largest international multicentre studies (12 centres across 9 countries) characterising genotypic and phenotypic spectrum of TYR and other genes associated with albinism (Kuht HJ et al. 2022). To translate this knowledge into ground-breaking treatments, we have developed advanced zebrafish models that closely mimic the human condition, providing a unique and powerful system to screen potential therapies at unprecedented scale.
In this exciting fully-funded 4-year PhD project, you will use our cutting-edge animal models and screening facilities to identify novel drugs capable of improving vision and reducing ocular motility problems. Your work will help bridge a critical gap from basic genetic understanding to targeted clinical therapies, potentially transforming patient outcomes and quality of life.

Key Goals

• Systematic Exploration: Conduct a thorough systematic review to pinpoint existing and emerging drug candidates for IN. We will provide training for systematic literature review (example: Rodwell V et al. 2023).
• State-of-the-Art Zebrafish Models: Deeply characterise visual and oculomotor functions in genetically modified zebrafish, employing sophisticated assays (example; Rodwell V et al. 2024).
• Innovative Drug Screening: Use our high-throughput assays to rigorously screen a targeted drug library, determining optimal dosages and identifying the most promising therapeutic interventions.
• Critical Timing Studies: Examine how the timing of drug intervention during key developmental windows influences therapeutic effectiveness.
• Data-Driven Analysis: Apply advanced analytical methods to delineate genotype-specific drug responses, guiding future tailored treatments.

By joining this exciting PhD project, you will become part of a dedicated, multidisciplinary team working at the very forefront of vision science research. You will work closely with internationally recognised leaders in ophthalmology, functional genomics, and translational medicine, including collaborators at world-renowned institutes such as INSERM in Paris and partnerships with biopharmaceutical industry collaborators. 

You will be immersed in an exceptional training environment at the Â鶹ÊÓƵ, developing advanced skills in genetic engineering techniques, drug screening, AI-based vision assay analysis, microscopy, bioinformatics, and much more.

Your daily research will benefit from our outstanding core facilities, including the state-of-the-art £16M Preclinical Research Facility, cutting-edge imaging platforms through the advanced imaging and electron microscopy facilities, powerful genomic sequencing technologies, and access to Leicester's High-Performance Computing (ALICE) cluster.

As your project progresses, you'll have the opportunity to share your findings on the international stage, presenting at major scientific conferences, publishing in leading journals, and engaging directly with patient advocacy groups. This experience will not only expand your professional network but also ensure your work makes a tangible impact on the lives of individuals affected by infantile nystagmus.

We welcome motivated, proactive graduates from diverse fields, including genetics, vision science, pharmacology, biology, or related disciplines. Prior experience with zebrafish or animal models is beneficial but not essential—we provide comprehensive training.

This project is fully funded by Fight for Sight in collaboration with the Nystagmus Network, offering a unique opportunity to work alongside leading patient charities, contribute to vision research with real-world impact, and build valuable networks with clinicians, scientists, and fellow PhD students in this exciting field.

References

1. Tarpey P et al. Nat Genet. 2006 Nov;38(11):1242-4.
2. Thomas MG et al. Brain. 2011 Mar;134(Pt 3):892-902.
3. Kuht HJ et al. Ophthalmology. 2022 Jun;129(6):708-718.
4. Rodwell V et al. Biology (Basel). 2023 Dec 20;13(1):4.
5. Rodwell V et al. Sci Rep. 2024 Jan 2;14(1):236.

To apply follow the application advice in the sections below and use to application link at the bottom of the web page to submit your application.