PhD: reducing DEB/JEB eye scarring
EB can affect the cornea resulting in severe pain and impaired vision. This project, originally conceived as a small grant, will now contribute funding to train a new EB eye expert. They will grow cells from human corneas that can undergo scarring behaviour like those in the eyes of people with EB. These can then be used for the first tests of a potential anti-scarring eyedrop to save the sight of children with EB.
Dr Gink Yang will supervise a PhD student in the laboratory of Prof Keith Martin at the University of Melbourne, Australia, to grow human eye cells from donated corneas. They will use siRNA technology to reduce the amount of collagen (to mimic RDEB) or laminin (to mimic JEB) that the eye cells produce. The first stage of this project will be to confirm that this works and that the cells start to behave as if they are from an EB patient. Then, an anti-scarring substance can be tested on these cells to see if it reduces the EB changes and how it does this. If this provides evidence that the therapeutic substance is effective, it could be progressed to further trials.
About our funding
| Research Leader | Prof Keith Martin / Dr Gink Yang |
| PhD student | Haiming Li |
| Institution | Centre for Eye Research Australia (CERA), University of Melbourne, Australia |
| Types of EB | RDEB and JEB |
| Patient involvement | None |
| Funding amount | £15,000 towards a PhD studentship co-funded with DEBRA Australia |
| Project length | 3 years |
| Start date | 11 January 2025 |
| DEBRA internal ID | GR000016 |
Project details
In the first year of this PhD project, Haiming has completed initial training and researched the published scientific literature to write a review of what is already known about damage to the cornea in rare disease including EB. You can read the published review here. A poster, titled “Li H et al. Preclinical Models of Corneal Fibrosis for Clinical Translation” was presented by Dr Gink Yang at the Asia-Pacific Academy of Ophthalmology (APAO) Annual Conference, Hong Kong 2026.
Research leader:
Prof Keith Martin is Honorary Senior Research Fellow at the University of Cambridge and Head of Ophthalmology at University of Melbourne (UoM). Prof Martin has been Director of the Centre for Eye Research Australia (CERA) for three years, but his Cambridge laboratory remains active, supported in part by Fight for Sight. As Director of CERA, Prof Martin leads a diverse group of researchers conducting world leading basic and clinical studies in eye research. Prof Martin is a glaucoma specialist with a particular interest in developing new therapies to protect and restore vision in glaucoma.
Co-researchers:
Dr Gink Yang has a strong scientific background in epidermolysis bullosa (EB) and EB-induced squamous cell carcinoma, regenerative medicine, wound repair and genetics. Dr Yang has published on EB-induced skin blistering, EB-kindler syndrome, and squamous cell carcinoma. He was awarded a CERA Innovation Fund grant to validate an anti-scarring factor for the cornea in 2021 and has obtained promising results for this research. He now hopes to validate the efficacy of this factor for corneal scarring in recessive and junctional EB. The project will be led by Dr Yang day to day, with progress tracked by Prof Martin on a monthly basis. Prof Daniell will provide additional clinical and scientific support.
Prof Mark Daniell is Head of Corneal Research at CERA / UoM and leads the Corneal Unit at Royal Victorian Eye and Ear Hospital. The research themes of Prof Daniell’s laboratory include corneal clinical science, surgical device development, corneal dystrophies, keratoconus, and corneal scarring – a new theme led by Dr Gink Yang, an Early Career (PhD awarded in Aug 2020) Research Fellow at CERA and Honorary Fellow at UoM.
“An international patient survey on EB patients in 2020 reported patients commenting that corneal erosions ‘usually completely shut down my life’ and ‘are one of the worst secondary issues associated with EB, if not the most painful.’ The proposed project is of basic research nature; however, the overriding aim of the project is to develop a novel anti-scarring eyedrop formulation for EB patients experiencing corneal erosion and scarring. The proposed research may also reveal additional novel targets for EB-induced corneal scarring. This will ultimately accelerate the research and development of other drugs for EB patients in the future.”
– Prof Keith Martin
Grant Title: Reducing corneal scarring in epidermolysis bullosa with a novel factor
Brief background and need for the research: Epidermolysis bullosa is a rare inherited disease that causes blistering of the skin and mucous surfaces of the body, including the eye. Living with this disease is like living with third degree burns. Sufferers have restricted mobility and often must be bandaged every day to protect and medicate their painful wounds. Specific mutations in certain types of this disease also have serious impact on the health of the cornea – the outer transparent layer of the eye. The cornea is an important part of our visual system, and any erosion or scarring to the cornea can result in severe eye pain and impaired vision. Current clinical treatments for epidermolysis bullosa including the use of contact lenses, lubrication, and antibiotics to reduce symptoms, but do not offer a solution to prevent scarring in the cornea. Corneal scarring can cause serious deterioration to vision, and hence quality of life, for those already fighting unimaginable daily battles.
Aim of the study: Our research aims to develop an anti-scarring eyedrop for epidermolysis bullosa sufferers using a novel factor.
Method of investigation: The novel factor has been shown to restrict molecular mechanisms responsible for corneal scarring and improve corneal transparency in our preliminary studies. The objective of the project is to validate its efficacy in epidermolysis bullosa models using human corneal cells. The human corneal cells will be isolated from donated corneas and transiently reprogrammed to mimic the characteristics from specific forms of epidermolysis bullosa. We will then administer this factor in cell culture following induction of fibrosis and assess its efficacy using biochemistry and microscopy.
Clinical benefit: Given the complex medical implications of epidermolysis bullosa, it is important to ensure that pharmaceuticals under development for this disease are target specific and will not induce unacceptable side effects. Our laboratory-based study using isolated human corneal cells and target-specific gene modifications to model disease subtypes will facilitate the validation of a potential new therapy. Results from this study will reveal if the anti-scarring factor is safe and effective at a cellular level. This is an important step towards preclinical trials, where the systemic effect of the anti-scarring factor can be further assessed. The overriding aim of this research is to develop an eyedrop using the anti-scarring factor for patients suffering from epidermolysis bullosa-induced corneal scarring. Once developed, the eyedrop will be administered to patients both as a prevention and treatment for corneal erosion/scarring. This could potentially reduce the need for prolonged use of antibiotics and steroids, thus reducing the potentially harmful side effects from these existing treatments.
Corneal scarring is a leading cause of sight loss in people with Epidermolysis Bullosa (EB). In Junctional EB (JEB), the front surface of the eye is fragile because a key anchoring protein called laminin-332 is missing or faulty. Small injuries cause blisters, blisters heal as scars, and scars stop light passing through the cornea. There is currently no treatment that prevents or reverses this scarring. This DEBRA UK-funded project aims to develop laboratory models that mimic how corneal scarring develops in JEB. These models are important because they provide a platform for safe testing of new treatments before clinical use. One model uses human corneal cells with reduced laminin-332. Once established, these models will be used to test potential treatments, including an existing anti-scarring drug (mitomycin C) and a new approach based on macrophage-derived extracellular vesicles.
During this reporting period, I have focused on building the foundation for this work. I published a review article on therapeutic strategies for corneal fibrosis in rare diseases, including EB. I completed the required training, established the experimental protocols, obtained ethics approval, and developed bioinformatics skills for future gene expression studies. I also passed my PhD pre-confirmation at the University of Melbourne in December 2025. With the preparatory work now complete, the first experiments will begin in Year 2. The outcome we are working toward is clear and concrete: to prevent corneal scars in EB before they take sight away. (From 2026 progress report.)