Developing molecular and genetic therapies for Late-onset Retinal Degeneration

About the Project

Fully-funded PhD Studentship at the Institute for Regeneration and Repair

A 4-year, fully-funded PhD studentship to study at the Institute for Regeneration and Repair (IRR), a research institute based at the University of Edinburgh. Scientists and clinicians at IRR study tissue regeneration and repair to advance human health and reproductive outcomes. The Institute incorporates three leading research centres with a focus on regenerative medicine, inflammation and reproductive health.

About the Project

Summary

We are offering an exciting 4-year PhD studentship with translational potential to advance understanding of late-onset retinal degeneration (L-ORD). L-ORD is a rare inherited eye disease that causes progressive vision loss later in life. Currently, no treatments exist, largely because the cellular mechanisms driving the disease remain unclear. Changes in a gene called C1QTNF5 cause L-ORD. This gene produces a protein found in the retinal pigment epithelium (RPE), cells essential for healthy vision. This project aims to uncover how these genetic changes damage RPE and to explore potential therapeutic strategies to prevent or reduce this harm.

Project outline

L-ORD is a rare, autosomal dominant condition that causes progressive visual impairment starting in middle age. There is no treatment and L-ORD invariably leads to severe sight loss. The Stanton lab has identified pathogenic mutations in C1QTNF5 in L-ORD families[1,2]. C1QTNF5 encodes a protein of unknown function that is highly expressed in RPE cells, the primary site of dysfunction in L-ORD retinas. Depending on genetic cause, impact upon C1QTNF5 protein, retinal phenotype and disease time-course can vary [3,4]. This led us to question if different pathogenic variants share RPE phenotypes, and whether genetic or molecular therapies can ameliorate cellular dysfunction.

This project will investigate RPE dysfunction in genetically distinct L-ORD models to identify cellular phenotypes and assess rescue using genetic and molecular approaches. The student will be based at IRR, but experiments will also be performed at UCL Institute of Ophthalmology (Moosajee lab).

Aim 1: Generate patient-derived induced pluripotent stem cells (iPSC), perform gene editing to generate isogenic controls and differentiate to iRPE, alongside existing L-ORD iPSC.

Aim 2: Characterise cellular and molecular phenotypes of “disease in-a-dish” L-ORD models to identify alterations arising as a consequence of the pathogenic mutations.

Aim 3: Test genetic and molecular approaches to future therapy.

Training Outcomes

The successful applicant will be trained in diverse lab skills by teams with complementary expertise, including human stem cell biology, RPE differentiation, and cutting-edge molecular genomics approaches including gene editing, fluorescence microscopy, transcriptomics and FACs. The student will also have opportunities to develop science communication skills and to conduct public and patient involvement and engagement (PPIE) activities.

Contact details

For more information, please contact Dr Chloe Stanton, chloe.m.stanton@ed.ac.uk.

Funding Notes

The successful candidate will receive a 4-year, fully-funded UK Vision Research Network Doctoral Training Programme Studentship, funded by Fight for Sight. This studentship is open to candidates who are eligible for tuition fees at UK Home Fee rate. The studentship offers a stipend (rate commensurate with the UKRI), and funds for research and travel.

Recruitment

This project will be suited to students with a strong interest in genetics, stem cells, disease modelling and regenerative medicine. Applicants must be of outstanding academic merit and research potential. Applicants should have obtained (or will soon obtain) a first or upper second-class UK honours degree or equivalent non-UK qualification, in a relevant subject area including biomedical sciences, genetics or biology. Research experience in cell culture and/or molecular biology is desirable.

How to apply

Informal enquires are encouraged via email to Dr Chloe Stanton, chloe.m.stanton@ed.ac.uk.

Please send your CV, cover letter and two references before 5th June 2026 (12noon, UK time) via email to: Chloe Stanton, chloe.m.stanton@ed.ac.uk. Please add ‘UKVRN Studentship’ in subject.

We are unable to respond to unsuccessful or incomplete applications.

Interviews are expected to take place in late June-early July 2026.

The expected start date is 5th October 2026.

Application deadline

5th of June 2026 (12noon, UK time)