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We are offering a fulltime, three-year PhD studentship to further our understanding of the molecular causes of CRB1-retinopathy
Moorfields Eye Charity/ Fight For Sight Three-Year PhD Studentship
UCL Department / Division: UCL Institute of Ophthalmology
Duration of Studentship: Three years, available to start from August/September 2022
PhD Title: Genotype-phenotype study of CRB1-retinopathy
Supervisor(s): Prof Mariya Moosajee (primary) and Mr Robert Henderson (secondary)
Summary
We are offering a fulltime, three-year PhD studentship to further our understanding of the molecular causes of CRB1-retinopathy leading to better prognosis and application of therapeutics for inherited retinal diseases, with a specific focus on Leber congenital amaurosis and retinitis pigmentosa. The aim is to characterise the early signs of disease, determine disease progression in a paediatric cohort, and establish a set of age-appropriate tests suitable for clinical trial endpoints.
Background
Inherited retinal diseases are the commonest cause of blindness amongst working age adults in the UK. They affect 1 in 2000 people worldwide and are caused by faults in our genetic code or DNA found in over 260 identified genes. One such gene is called CRB1, which provides instructions for making a protein that plays an essential role in the development of the light sensitive layer at the back of our eye (the retina) and in parts of our brain. When mutations exist in the CRB1 gene, individuals can develop different patterns of sight loss.
Mutations in CRB1 cause a heterogenous spectrum of retinopathies. It has not yet been identified why certain mutations in the CRB1 gene gives rise to such variable clinical features or why some patients are more severely affected than others. Focusing on patients with confirmed cases of CRB1 mutations resulting in Leber congenital amaurosis and retinitis pigmentosa, the aim is to improve our understanding of these condition and investigate the natural history of the disease. As there is currently no existing treatment available, this information will allow us to better advise patients on their future disease course and guide the outcomes for clinical trials.
We will also be assessing newer child-friendly vision tests that if found to be more suitable for monitoring disease progression in children with reliable results, may provide a highly applicable set of measures for use in paediatric patients with inherited eye disease.
Key skills to be gained
Deep understanding of the clinical features and disease processes of CRB1 retinopathy, gain skills in psychophysics, high-level statistical data analysis to provide understanding about disease progression, will benefit from significant training in genetics and will be able to extrapolate genotype-phenotype correlations. The individual will become an expert in deep phenotyping inherited retinal diseases including the use of microperimetry, octopus kinetic perimetry, constrast sensitivity, Cambridge colour testing, fundus autofluorescence, SD-OCT, full-field stimulus threshold, and functional MRI brain scanning (with Dr Tessa Dekker). In addition to assessing the utility of newly developed child-friendly equivalent tests such as eye-tracker based computer tasks developed by collaborators Dr John Greenwood and Dr Pete Jones
Applicants should hold, or expect to receive, a Bachelor of Medicine and Bachelor of Surgery (MBBS) degree or equivalent (with a minimum 2:1 or Upper second-class honours for their BSc) and have experience as a clinical scientist, optometrist or orthoptist working in the field of ophthalmology or vision science.
Duties and Responsibilities
The successful candidate is expected to:
- Recruit patients from Moorfields Eye Hospital
- Undertake and collect data to include patient history, examination of patients, carry out functional testing, and interpret results
- Oversee progress and co-ordinate with patients for clinical appointments relevant to the study
- Work collaboratively with other members of the team, and clinical colleagues
- Liaise with other research staff at other collaborating centres
- Contribute to the activities of the research team, department and be aware of UCL policies
- Organise and manage project data whilst liaising with the lead investigators
- Participate in research meetings and journal clubs at MEH and UCL Institute of Ophthalmology
- Meet timelines and goals, agreed in discussion with the principal investigators
- Present the results of the project in national and international meetings, and charity partners (patient and public engagement activities)
- Prepare manuscripts for submission to international peer-reviewed journals
- Prepare progress reports
- Prepare presentations
- Carry out any other duties as are within the scope, spirit and purpose of the job, the title of the post and its grading as requested by the supervisor and head of division
Person Specification
- A good degree (2.1 or above; or equivalent EU/overseas degree) in optometry, orthoptics, biology or life sciences
- A Bachelor of Medicine and Bachelor of Surgery (MBBS) degree or have experience as a clinical scientist, optometrist or orthoptist working in the field of ophthalmology or vision science
- Demonstrable interest in working with human subjects, both adults and children
- Excellent methodological skills, particularly in project planning
- Very strong work ethic, with the ability to think creatively, ambitious and work both individually and within a team
- Good analytical/statistical skills and experience with software packages
- Good communication skills
- Work in collaboration with other researchers
- High proficiency in written and spoken English is required
Informal enquiries should be made to Prof Mariya Moosajee (please email Michelle Louisor research co-ordinator on m.louisor@ucl.ac.uk). Pre-interview meetings will be scheduled if shortlisted.
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 (ioo.pgr@ucl.ac.uk).
Shortlisted candidates will be contacted directly for interview.
The successful candidate is expected to start August/September 2022, but there is a possibility that the start date could be delayed.
Funding Notes
This studentship is funded for three years by Moorfields Eye Charity and Fight For Sight and includes UK UCL PhD tuition fees, laboratory costs and an annual salary stipend starting at £24,000.
Eligibility
The full studentship (tuition fees and salary stipend) is eligible to all UK nationals and some EU nationals depending on their UK settlement status.
Applicants who will incur international fees are welcome to apply and must show that they can supplement the difference between UK and international fees (currently £26,680 per year) in their application.
Application deadline
Sunday 26 June 2022 at 11:59pm (extended from 19 June 2022)
Proposed interview date
Week commencing 4 July 2022