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A new hope for JEB: encouraging skin to heal itself

by Ilaria Di Girolamo, 3rd November 2025 (Last updated 11th November 2025)

Ilaria Di Girolamo wearing a lab coat, gloves, and safety glasses uses a pipette at a laboratory workstation with cell culture containers.

 

I am Ilaria Di Girolamo, a PhD student in the lab of Dr Gernot Walko at Queen Mary University of London.

 

Which aspect of EB are you most interested in?

My research focuses on junctional epidermolysis bullosa (JEB). The most severe form of JEB is caused by changes in the genetic recipe for part of a protein called laminin-332. Laminin proteins form anchoring structures that connect the outer layer of the skin (epidermis) to the inner layer (dermis). When the laminin proteins are not working properly together, the dermal and epidermal layers of skin can separate, even with very gentle movement of the skin, leading to blister formation.

In JEB skin, an important protein called YAP (short for “Yes-associated protein”) is found in much lower amounts in the nuclei of cells than in normal skin. Inside the nucleus of every cell of our body is a blueprint book called DNA. This book contains instructions (called genes) for making all the different proteins that are the tools and machines that the cells in our body need, but not all proteins are made in all cells at all times. In the skin cell’s nucleus, the protein YAP has the job of “turning on” specific genes to make proteins that are needed for skin to heal and regenerate.

My research is exploring whether we can raise nuclear YAP levels back to normal in the skin cells of people with JEB. If we can show that, there’s a chance we could help the skin of people with JEB heal better, and that could open the door to new treatments that will improve wound care for people living with JEB.

 

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

JEB is a particularly painful and challenging variant of EB, affecting around 5% (one in twenty) of all EB patients. The skin is so delicate that it can blister or tear even with gentle contact. In the most severe forms, the blistering affects most of the body. There’s no cure yet, so daily life can be very difficult. Even a small improvement in healing could make a big difference – from reducing pain and preventing infections to helping wounds close more quickly. Recently, several potential medications have been developed that can increase nuclear levels of YAP, and my research will explore if these can be used in JEB skin cells to improve wound healing. I hope my work will bring us one step closer to better treatments in the future.

 

Ilaria Di Girolamo wearing a white lab coat, gloves, and safety glasses prepares samples at a laboratory workbench with scientific equipment.Who or what inspired you to work on EB?

Since childhood, I’ve been curious about how things work, especially skincare. I used to mix my mum’s cosmetics, sparking my love for science. While studying, I worked at a pharmaceutical company running clinical trials for cancer treatments, witnessing research’s ultimate impact on patients. I first discovered this PhD project while looking for research opportunities. Around the same time, I was speaking with a family member who works as a teacher. She told me about one of her young students who lives with EB, and how strong and brave this child was in dealing with such a difficult condition every day. That conversation really stayed with me. I looked up more information about EB and came across the DEBRA UK website. I was inspired by the work being done and by the strength of the EB community. That’s when I knew I wanted to dedicate my research to helping people living with this condition.

 

What does the funding from DEBRA UK mean to you?

I’ve always worked alongside my studies to support myself, so receiving funding from DEBRA UK means so much to me. It allows me to fully focus on my research, knowing that I’m backed by an organisation that truly cares about improving lives. But it’s not just about the financial support – it’s also about being part of a caring and passionate community. A community of researchers, families, supporters, and people living with EB, all working toward the same goal. That sense of belonging gives me a strong sense of purpose and motivates me every single day.

 

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

Most days start early for me in the lab. I usually begin by setting up experiments and collecting data. During the day, I also catch up with colleagues – we often have chats over coffee to share ideas or help each other solve problems. I often attend meetings or seminars to keep learning more about EB and other areas of science. In the evenings, I take the train back home from London to Cambridge, and I often use that time to reflect on the day and plan for the next one. It’s a busy routine, but I find it really rewarding – I’m always learning something new.

 

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

I’m lucky to be part of a great research environment. At QMUL, we have an Epidermolysis Bullosa Hub, and my PhD supervisors are all part of this amazing research community. My lab is based at the Blizard Institute, where we have a large community of skin researchers, and I frequently work with other members of the Walko, Caley, and Rognoni labs. Everyone is supportive, both in the lab and outside of it. We work closely together and are always happy to help each other out when things get challenging. We often have lunch together, which gives us a chance to talk about how things are going and share advice. Being part of a friendly and collaborative team makes a big difference, especially when working on something as complex and important as EB research.

 

A group of people pose outdoors on grass, some holding hula hoops and wearing white hats with duck faces.

 

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

When I’m not in the lab, I love spending time in nature. I’m a member of the National Trust, so on weekends I often visit different countryside or heritage sites across the UK with friends. It’s a great way to relax and recharge away from the busy pace of city life. I also really value time with my family. They live in Italy, and I try to visit them as often as I can to spend some proper quality time together. It helps me stay grounded and reminds me why I do what I do.

 

What these words mean

  • Laminin-332 = a type of laminin protein made from alpha-3, beta-3, and gamma-2 genes. It helps stick the layers of the skin together.
  • YAP = “Yes-Associated Protein” is a protein that helps control how cells grow and divide. It acts like a switch – turning on to help cells grow and turning off when they should stop.
  • DNA = a set of instructions inside every cell of your body. It tells your body how to grow, function, and what makes you you – from your eye colour to how your organs work.
  • Everyone’s DNA is a little different, and makes each person unique!