Nanogel gene therapy for JEB

Hi, my name is Thomas Dunne and I recently started my PhD studies at Queen’s University Belfast. My research project focuses on the inherited skin condition, junctional epidermolysis bullosa (JEB).

Which aspect of EB are you most interested in?

I am especially interested in JEB, which accounts for around 5% of EB cases.

Most cases of JEB are caused by changes in two key genes:

• LAMB3 – provides instructions for making laminin 332, a protein that helps hold skin layers together.
• COL17A1 – provides instructions for making type 17 collagen, which keeps the skin strong and stable.

When they do not work, the skin becomes extremely fragile, and blistering occurs easily. My PhD will focus on restoring the function of these two genes, aiming to strengthen the skin and reduce blistering.

I believe this area is important because JEB affects babies from birth, leading to serious health problems which can massively affect quality of life. Finding a new treatment could make a significant difference for them and their families.

What difference will your work make to people living with EB?

By the end of my PhD studies, the goal is to develop a topically applied gel to treat both genetic changes that are responsible for causing the majority of JEB.

This gel will be called a “nanogel”, because the treatment will be tiny mRNA nanoparticles containing correct genetic recipes for LAMB3 and COL17A1.

Messenger RNA (mRNA) is a molecule that carries a copy of the gene in a cell’s nucleus to the cell’s protein-making machinery, guiding the production of specific proteins. It acts like a message that tells the cell what proteins to make and how to make them. A nanogel consists of interlinked molecules that hold water and particles that are 1-100 nanometres in size – a thousand times smaller than the thickness of a human hair. Nanogels can be used to deliver medicines directly to specific areas in the body and break down safely afterwards. The future aim is to translate this technology so that people with JEB can apply it to their own wounds. If successful, this approach could provide a treatment that is non-invasive, pain-free, and easy to use at home, reducing the need for repeated hospital visits and distressing procedures.

For people with EB, who currently rely mostly on supportive wound care and pain management, the nanogel could offer targeted therapy addressing the underlying cause of skin fragility rather than just the symptoms. Ultimately, this could improve wound healing, skin strength, quality of life, independence, and long-term health outcomes for those living with the condition.

What does the funding from DEBRA UK mean to you?

This funding offers an important opportunity to conduct effective research into the treatment of JEB. Through this project, we aim to improve the quality of life for many people. The support from DEBRA UK goes beyond financial assistance; it enables progress towards a better understanding of JEB and developing treatments. It also enables me to be trained as a researcher specialising in JEB. Knowing DEBRA UK prioritises this work provides motivation and reflects a commitment to improving the daily lives of those affected by EB.

What does a day in your life as an EB research look like?

When I come into the lab in the morning, I check the cells which I grow under carefully controlled conditions in incubators at the same temperature as the human body. I replace the nutrient rich liquid they grow in each day and set them up for any experiments I have planned. I spend some time in the lab preparing the treatments that will be added to the cells for my experiments.

Additionally, I would have a talk with either fellow PhD students or postdoctoral researchers in the research group to organise further experimental training. In the afternoon, I focus on data analysis and keeping up to date with the literature.

This mix of reading, experimentation, and teamwork helps keep our research thorough, well-documented, and progressing steadily.

Who’s on your team and what do they do to support your EB research?

My PhD supervisor is Prof Helen McCarthy. She holds the Chair of Nanomedicine and leads the ‘Nanomedicine and Biotherapeutics’ research theme in the School of Pharmacy as well as being an Associate Pro-Vice Chancellor here at

Our group collaborates with Prof Nicholas Dunne, the Chair of Biomaterials Engineering in the School of Mechanical and Manufacturing Engineering at Dublin City University (DCU). His lab focuses on designing and creating drug-biomaterial combinations for joints, wound-healing and cancer treatment.

How do you relax when you’re not working on EB?

In my free time, I enjoy watching films and am a fan of all genres. I have been an active rower for many years, both organising and competing in various events and recently joined the Belfast Rowing Club. Additionally, I am starting to play the electric guitar again and listen to a wide range of music.

What these words mean:

• DNA = deoxyribonucleic acid – a molecule made up of four subunits (bases represented as A, C, G and T) repeated many times in two long chains, twisted around each other, that can spell out recipes to make proteins
• Chromosome = a single molecule of DNA, many millions of bases long
• Nucleus = a structure inside cells that contains chromosomes
• RNA = ribonucleic acid – a molecule made up of four subunits in a chain that can copy DNA sequences
• PhD = Doctor of Philosophy – the highest academic qualification that equips graduates with advanced critical thinking and research skills
• Nanometre = a very tiny measurement of length: a thousand nanometres make one micrometre; a thousand micrometres make one millimetre; a thousand millimetres make one metre.
• Biomaterial = a substance that interacts with part of a living body for a medical purpose, for example contact lenses, dental implants and artificial joints.