About the Project
Institute of Ophthalmology 3-Year PhD Studentship
UCL Department: UCL Institute of Ophthalmology
Duration: 3 years commencing 1 October 2026
PhD Title: Increasing the molecular diagnosis rate of anophthalmia and microphthalmia: Identification and validation of new genomic variants
Supervisor(s): https://profiles.ucl.ac.uk/8239-rodrigo-young and https://profiles.ucl.ac.uk/3021-alison-hardcastle
Websites: Faculty of Brain Sciences, Young lab.
About the PhD
We are delighted to offer a fully funded 3-year PhD studentship investigating the genetic causes of anophthalmia and microphthalmia (A/M), rare congenital eye disorders that account for approximately 11% of childhood blindness. Despite more than 100 genes having been associated with these conditions, around 80% of patients still do not receive a molecular diagnosis.
The successful candidate will combine human genomics, pathogenic variant interpretation, developmental genetics and advanced imaging to identify and validate novel disease-causing variants. Working with a unique cohort of over 250 genetically undiagnosed patients from the UK 100,000 Genomes Project, the student will use cutting-edge bioinformatic tools to identify candidate variants and investigate their function using CRISPR gene editing in zebrafish and human retinal organoid models.
The project offers training across computational and experimental biology, including genome analysis, molecular genetics, developmental biology, confocal microscopy and stem cell-derived organoid systems. The student will join the internationally recognised research environment at the https://www.ucl.ac.uk/brain-sciences/ioo and work closely with collaborators in clinical genetics, developmental biology and ophthalmology. The findings from this research are expected to improve the genetic diagnosis of congenital eye disorders and provide new insights into the mechanisms controlling human eye development.
Applicants should hold or expect to receive a minimum upper–second undergraduate degree or an equivalent qualification in an associated subject such as Biochemistry, Genetics, Developmental Biology, Molecular Biology, Biomedical Sciences, Neuroscience, Bioinformatics or a related life sciences discipline. A Master’s (MSc) degree and/or previous lab-based research experience is essential.
Part of the Faculty of Brain Sciences, the UCL Institute of Ophthalmology is ranked the best place in the world to study ophthalmology (CWUR Rankings by Subject 2017). Our partnership with Moorfields Eye Hospital represents the largest co-located site for eye research, education and care in the world.
Duties and Responsibilities
The successful candidate is expected to:
- Analyse whole-genome sequencing data from patients with congenital eye malformations using current bioinformatic and AI-assisted variant interpretation tools
- Identify and prioritise candidate disease-causing genomic variants for experimental validation
- Perform CRISPR/Cas9 genome editing and molecular biology techniques in zebrafish to investigate gene function during eye development
- Culture and characterise human induced pluripotent stem cell-derived retinal organoids in collaboration with the institute's Hardcastle laboratory
- Perform molecular, histological and immunofluorescence techniques, including PCR, in situ hybridisation and immunohistochemistry
- Acquire and analyse confocal microscopy images and quantitative imaging datasets
- Contribute to the design, execution and interpretation of experiments, maintaining accurate laboratory records and ensuring reproducibility
- Work collaboratively with researchers across the Institute of Ophthalmology, Moorfields Eye Hospital and external collaborators
- Present research findings at laboratory meetings, national and international conferences
- Prepare scientific manuscripts for publication in peer-reviewed journals
- Contribute to the wider activities of the research group and comply with UCL policies relating to research integrity, health and safety, and equality, diversity and inclusion
Person Specification
Essential
- A minimum Upper Second-Class Honours (2:1) degree, or equivalent, in Biochemistry, Genetics, Developmental Biology, Molecular Biology, Biomedical Sciences, Neuroscience, Bioinformatics or a related life sciences discipline
- A strong interest in developmental genetics, genomics and congenital human disease
- Demonstrable laboratory experience in molecular biology, cell biology, developmental biology or genetics (through research projects or relevant employment)
- Excellent organisational skills and the ability to plan and manage research projects effectively
- Strong analytical and problem-solving skills, with careful attention to detail
- Ability to analyse and interpret experimental data using appropriate statistical methods
- Excellent written and verbal communication skills in English
- Ability to work both independently and collaboratively within a multidisciplinary research team
- Motivation to learn new experimental and computational techniques and contribute to a collaborative research environment
Desirable
- An MSc or equivalent postgraduate research experience
- Experience in any of the following:
- molecular genetics or genomics;
- CRISPR genome editing;
- zebrafish or other vertebrate developmental models;
- bioinformatics or analysis of next-generation sequencing data;
- confocal microscopy and quantitative image analysis;
- stem cell or organoid culture
- Programming experience (e.g. R or Python) or familiarity with genomic data analysis.
- Knowledge of developmental biology, ophthalmic genetics or rare genetic disease.
- Evidence of scientific communication, such as conference presentations or peer-reviewed publications.
- Enthusiasm for translational research aimed at improving the diagnosis of inherited eye disease.
Commencement
Start 1 October 2026. Some flexibility may be possible and can be discussed at interview.
Funding Notes
This studentship is funded for 3 years by Fight for Sight and is inclusive of UCL home or international rate tuition fees, laboratory costs and an annual stipend starting at GBP £22,000.
Eligibility
The full studentship (tuition and stipend) is eligible for UK students (please see ‘Tuition fee classification’ on this page: https://www.ucl.ac.uk/prospective-students/graduate/tuition-fees). Both Home and Overseas fees are covered by the award as per the following.
Enquiries
Enquiries relating to the application process should be sent to the Research Degrees Manager at ioo.pgr@ucl.ac.uk.
Informal enquiries regarding the studentship opportunity can be made to Dr Rodrigo Young at rodrigo.young@ucl.ac.uk.
How to apply
Prepare a single PDF document in the following order:
- A covering letter outlining motivation, interest, and suitability for this project;
- CV / resume
- Contact details for two academic referees
Attach with the reference RYFFS26 in the subject line and send to the Research Degrees Manager at ioo.pgr@ucl.ac.uk by the deadline stated below. Any details specified in the body of email messages will not form part of the application. We ask that applicants follow these instructions carefully since deviation from them may invalidate your application.
Application deadline: 23:59 British Summer Time (BST) Monday 17 August 2026.
Interview dates: Tuesday 1 – Friday 4 September 2026.
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