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From Gene Editing to Therapeutics: Building Human Corneal Models of Inherited Fragility Disorder Junctional Epidermolysis Bullosa

Funding
Funded
Study mode
Full-time
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Start date
Subject area
Biological and Biomedical Sciences
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Overview

Work at the frontier of cell engineering and high resolution imaging to understand how inherited mutations cause the cornea to break down in junctional epidermolysis bullosa. This project offers an exciting mix of discovery biology and translational model development, with clear routes toward future therapies

About this opportunity

Junctional epidermolysis bullosa (JEB) is one of the most severe inherited blistering disorders, and for many patients the eye is affected early and relentlessly. Even small amounts of friction can cause the corneal surface to break down, leading to painful erosions, repeated wounds and progressive scarring that can ultimately result in blindness. The protein laminin‑332 is established as essential for anchoring the corneal epithelium, however, the field still lacks a high‑resolution understanding of how patient‑specific mutations disrupt its assembly, and we have limited laboratory platforms for testing emerging treatments. This PhD will tackle these challenges directly using a combination of advanced imaging, gene editing and human 3D corneal tissue models.

 

Laminin‑332 is built from three subunits, and mutations in the LAMB3 gene are the most common cause of JEB. Recent advances from our research team now make it possible to fluorescently tag endogenous laminin‑332 inside human corneal cells without disturbing its function. Building on these tools, this project will use CRISPR/Cas9 genome editing to engineer precise versions of JEB mutations, in combination with super‑resolution imaging methods and live‑cell photoconversion microscopy. These techniques will allow us to visualise individual laminin molecules, map their organisation in the basement membrane and watch how cells attempt to repair epithelial damage in real‑time. The goal is to uncover the nanoscale mechanisms of corneal fragility and identify exactly how different mutations compromise tissue strength and wound healing.

 

A major component of the project involves creating next‑generation human models of JEB. The student will develop 2D cultures and then advanced 3D corneal-equivalents using engineered collagen scaffolds and biofabricated substrates optimised for imaging. These models will enable the student to compare healthy versus mutant cells in environments that closely mimic the human eye.

Our new models will form the foundation of a powerful therapeutic screening system: if a drug or gene‑based therapy successfully restores laminin‑332, the cells will produce a quantifiable read-out of rescue. The aim is to create an accessible, scalable platform for testing candidate treatments, helping to accelerate the search for effective therapies for patients.

 

Throughout the PhD, the student will receive training in CRISPR genome editing, high‑resolution microscopy, 3D tissue engineering, advanced image analysis, and quantitative screening. They will work within a multidisciplinary team combining cell biology, matrix biochemistry, biomaterials engineering and clinical expertise in corneal disease. The project is designed to give flexibility and ownership, allowing the student to focus on mechanisms of basement membrane assembly, model development, wound‑healing biology, or translational assay design depending on their interests.

 

By the end of the project, the student will have created a unique, human‑relevant disease model for JEB, generated new biological insight into laminin‑332 organisation, and delivered a screening platform that can be used to evaluate emerging drug and gene therapies. This is a rare opportunity to work at the interface of cutting‑edge imaging and meaningful patient‑centred translational research, ideal for students excited by discovery science with a clear pathway to improving future treatments for sight‑threatening disease.

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Who is this for?

This project is for someone with a background in biology with a desire to learn advanced microscopy approaches, genome editing and translational biology.

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How to apply

  1. 1. Contact supervisors

    Express your interest by email to khamill@liverpool.ac.uk and we will schedule a time to chat.

    Supervisors Email address Staff profile URL
    Dr Kevin Hamill khamill@liverpool.ac.uk https://www.liverpool.ac.uk/people/kevin-hamill
    Dr Hannah Levis H.Levis@liverpool.ac.uk https://www.liverpool.ac.uk/people/hannah-levis
    Dr Lucy Bosworth Greenhaf@liverpool.ac.uk https://www.liverpool.ac.uk/people/lucy-bosworth
  2. 2. Prepare your application documents

    You may need the following documents to complete your online application:

    • A research proposal (this should cover the research you’d like to undertake)
    • University transcripts and degree certificates to date
    • Passport details (international applicants only)
    • English language certificates (international applicants only)
    • A personal statement
    • A curriculum vitae (CV)
    • Contact details for two proposed supervisors
    • Names and contact details of two referees.
  3. 3. Apply

    Finally, register and apply online. You'll receive an email acknowledgment once you've submitted your application. We'll be in touch with further details about what happens next.

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Funding your PhD

This project is funded by Fight For Sight (FFS) and the Dystrophic Epidermolysis Bullosa Research Association (DEBRA). Funding covers tuition fees, bench fees and living expenses in line with the current UKRI rate.

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Contact us

Have a question about this research opportunity or studying a PhD with us? Please get in touch with us, using the contact details below, and we’ll be happy to assist you.

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