UCL Institute of Ophthalmology


Translating genetic discovery into clinical tools for personalised glaucoma care PhD studentship

We are welcoming applications for a three-year PhD studentship funded by our institute and the NIHR Biomedical Research Centre at Moorfields Eye Hospital. Closes: Thursday 10 August

UCL Department / Division: UCL Institute of Ophthalmology
Duration of Studentship: Three years, available to start in Autumn term 2023, with some flexibility with respect to the start date.
PhD Title: Translating genetic discovery into clinical tools for personalised glaucoma care
Supervisor(s): Dr Anthony Khawaja, Mr Robert Luben, Professor Aroon Hingorani and Professor Paul Foster

We are offering a full-time, three-year PhD studentship to discover new genetic factors that predict people are at highest risk of the glaucoma, establish a patient study to examine progression and determine whether these genetic factors can predict which glaucoma patients are at highest risk of blindness and respond best to treatment. The student will join our team of scientists working at the interface of multi-omic discovery and clinical prediction science for common blinding eye diseases. Our team have led landmark studies discovering the genetic causes of glaucoma and myopia with numerous recent publications in high impact journals including Nature Genetics, Nature Communications and the American Journal of Human Genetics. We also lead a programme of research aiming to identify novel modifiable risk factors for eye disease which has received substantial media interest (including Guardian, Times, Telegraph, New York Times). We collaborate widely, playing a prominent role in international consortia and engaging with world-leading industry partners like Google Health. 

Moorfields Eye Hospital is the largest eyecare provider in Europe and North America and our Biomedical Research Centre at Moorfields and UCL is ranked number one globally for ophthalmology research. Our team at the UCL Institute of Ophthalmology, UCL Institute of Cardiovascular Science  and Institute of Health Informatics are at the leading edge of combining phenomic information from electronic health record data with multi-omic data to understand disease aetiology and to prioritise and validate therapeutic targets. The groups play leading roles in the UCL NIHR Biomedical Research Centre, Health Data Research UK (HDR UK), and manage large population cohort consortia and case collections such as CORUM, aiming to embed genomic information in clinical care.

People fear losing their vision as much as developing dementia or cancer. Glaucoma is the leading cause of incurable blindness globally, affecting over 80 million people.  The overarching aim of this project is to discover the fundamental causes of glaucoma and use this knowledge to identify novel treatment targets and develop tools to identify people at highest risk of blindness from glaucoma. We aim to use these tools to enable targeted screening of people at highest risk in the community, and stratified care of diagnosed patients. Additionally, the models we develop may predict an individual's response to different treatments. If successful, these prediction models will enable precision glaucoma management, reducing the risk of blindness in high-risk patients while reducing treatment-associated morbidity and costs in low-risk patients. 

Applicants should hold, or expect to receive, a minimum upper-second degree or equivalent in a relevant numerate subject such as medical statistics, bioinformatics, computational biology, mathematics or life science with a significant computational element. A Master’s degree or previous research experience using large data, linkage, statistical modelling or coding is desirable.

The appointee will be based at both the UCL Institute of Ophthalmology and the UCL Institute of Health Informatics and will therefore be able to benefit from a diverse academic environment and interaction with world-leading expertise in glaucoma and cutting edge genetic and bioinformatic techniques.

Duties and Responsibilities 
The successful candidate is expected to: 

  • Learn to use common software tools used in genomics and machine learning and identify new tools as needed
  • Utilise existing in-house pipelines while helping to improve and develop these pipelines for others
  • Become familiar with accessing remote computer systems such as clusters and cloud-based systems, typically using Linux commands.
  • Become proficient in the use of statistical software, especially R and of statistical software used for epidemiology such as Stata.
  • Become familiar with hospital medical coding and databases and how to query and link these databases.
  • Share knowledge, computer code and documents using collaborative software and cloud-based code storage systems such as Gitlab/Github, shared with group members or made public as appropriate.
  • Work in collaboration with other researchers 
  • Prepare progress reports 
  • Prepare presentations 
  • Travel for collaboration and other meetings or conferences 
  • Prepare manuscripts for submission to international peer-reviewed journals 
  • Contribute to the overall activities of the research team, department and be aware of UCL policies 

Person Specification 

  • A degree (2.1 or above; or equivalent EU/overseas degree) and/or MSc in a numerate subject such as medical statistics, bioinformatics, computational biology, mathematics or a life science 
  • Demonstrable interest in working with human subjects and the translational medicine field
  • Experience with computational and statistical methods, coding, and software including open source and command line-based tool and utilities.
  • Excellent methodological skills, particularly in project planning 
  • High proficiency in written and spoken English is required 
  • Very strong work ethic, with the ability to think creatively and work both individually and within a team

Informal enquiries should be made to Dr. Anthony Khawaja (anthony.khawaja@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 the names and contact details for two academic referees. Please cite the PhD title of the studentship you are applying for. 

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 in Autumn term 2023 with some flexibility with respect to the start date.

Funding Notes
This studentship is funded for three years by the NIHR Biomedical Research Centre at Moorfields Eye Hospital and UCL Institute of Ophthalmology and includes UK UCL PhD tuition fees and an annual salary stipend starting at £22,000 p.a.    

The full studentship (tuition fees and salary stipend) is eligible to all UK nationals and some EU nationals depending on their settlement status. This scholarship will only cover UK home fees. 
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. (This fee difference is currently £26, 240 per academic year). 

Application deadline: Thursday 10 August 2023
Proposed interview date: Week beginning Monday 21 August 2023