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We are welcoming applications for a 3-year PhD studentship funded by Retina UK and the Macular Society. Closes Monday 17 July
UCL Department / Division: UCL Institute of Ophthalmology
Duration of Studentship: 3 years, available to start from September 2023
PhD Title: Investigating Stargardt disease as a prime target for gene repair
Supervisor(s): Professor Jacqueline van der Spuy and Professor Mike Cheetham
We are offering a full-time, 3 year PhD studentship to investigate the potential for recoding a common genetic cause of Stargardt’s disease, a juvenile macular dystrophy that severely affects vision in younger people.
Stargardt’s disease is the most common form of juvenile macular dystrophy affecting approximately 1:6500 individuals worldwide and characterised by the loss of vision that typically starts within the first 20 years of life. Stargardt’s disease is inherited in an autosomal recessive manner and is caused by genetic variations in the ABCA4 gene. The ABCA4 protein plays a critical role in the visual cycle and therefore the phototransduction of light. There are currently no approved treatments for Stargardt’s disease.
In this proposal, we will explore gene editing technologies to rescue the most common genetic variation in ABCA4 causing severe Stargardt’s disease. We will use in silico tools for the optimal design of the gene editing components followed by an in vitro molecular and cellular approach to screen for the best gene editor.
We will also develop a human disease model of Stargardt’s disease by introducing the genetic variation of interest into induced pluripotent stem cells (iPSC) and then differentiating the iPSC into retinal pigment epithelium, an important layer of cells underlying the neurosensory retina, and into 3D retinal organoids that include the light-sensing photoreceptor cells of retina. We will test whether the optimised gene editor can be efficiently delivered and directly correct the genetic change in the light sensing photoreceptor cells of the retinal organoid model.
Applicants should hold, or expect to receive, a minimum upper-second degree or equivalent in an associated subject in the biomedical or life sciences. A Master’s degree or previous lab-based research experience is desirable.
Duties and Responsibilities
The successful candidate is expected to:
- Develop a deep understanding and knowledge of the current literature relevant to the project and ensure continuous critical review of the literature throughout the project
- Develop, apply and advance the required expertise, technical and analytical skills to successfully achieve the desired research goals
- Keep precise, well-organised and detailed records of all research
- Work in close collaboration with the supervisory and thesis committee panels to develop and advance the research goals
- Work in collaboration with other researchers
- Prepare progress reports, research updates and presentations
- Meet all deadlines in a timely manner
- Travel for collaboration, meetings or conferences
- Prepare manuscripts for submission to international peer-reviewed journals
- Contribute to the overall activities of the research team and department, and be aware of UCL policies
Person Specification
- A good degree (2.1 or above; or equivalent EU/overseas degree) and/or MSc in an appropriate field (biomedical or life sciences)
- Demonstrable interest in the translational medicine field
- Experience in molecular and cellular biology is desirable
- Experience with statistical methods and software packages
- Experience of image processing
- Excellent methodological, technical and analytical skills
- Excellent project planning, time management and organisational skills
- High proficiency in written and spoken English
- Very strong work ethic, with the ability to think creatively and work both individually and within a team
- Ability to work towards set deadlines
- A commitment to the highest standards of research integrity
Informal enquiries should be made to Professor Jacqueline van der Spuy (j.spuy@ucl.ac.uk).
How to apply
Applicants should submit an application to the Research Degrees Manager ioo.pgr@ucl.ac.uk. You will be required to submit a CV, a covering letter outlining motivation, interest, and suitability for this project, and contact details for two academic referees.
Enquiries relating to the application process should be sent to the Research Degrees Manager at ioo.pgr@ucl.ac.uk
Shortlisted candidates will be contacted directly for interview.
The successful candidate is expected to start from September 2023, but flexibility with respect to the start date is possible.
Funding Notes
This studentship is funded for 3 years by Retina UK and the Macular Society and includes UK UCL PhD tuition fees, laboratory costs and an annual salary stipend starting at £22,000.
Eligibility
The full studentship (tuition fees and salary stipend) is eligible to all UK nationals and some EU nationals depending on their settlement status. Only UK Home rate tuition fees can be covered.
Applicants who will incur international fees are welcome to apply but they must show that they can supplement the difference between UK and international fees in their application.
Application deadline: 17 July 2023
Proposed interview date: TBC