By Dr Emanuel Rognoni

My name is Dr Emanuel Rognoni and I’m a senior lecturer at the Centre for Cell Biology & Cutaneous Research, Blizard Institute, Queen Mary University of London (QMUL).

 

Which aspect of EB are you most interested in?

My major interest in EB is to understand how different cell types in the skin contribute to the symptoms of EB. While most EB research has focused on how the outer skin layer (epidermis) is altered, the changes deeper in the connective tissue (dermis) are largely unknown. Here my lab has specialised in looking at different types of fibroblasts (the main cell type of the connective tissue) and understanding how they communicate with other skin cells and help to repair the skin. The cells in the epidermal (upper) and dermal (lower) skin layers need to work very closely together during skin repair. We believe that if we can understand how EB stops these cells working well together, we might find treatments to help them to behave more like cells from someone without EB. This has the potential to improve wound healing in EB skin.

 

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

In the lab we can grow different types of skin cells together to create models of skin for different types of EB, that mimic key features of the human condition. Instead of using skin from people living with EB, we use these skin models to test how different substances change the behaviour of cells within the skin and could improve skin health.  Collecting these pre-clinical data is essential for turning our research findings into treatments that could help people in the clinic. By helping EB patients to improve their wound healing and reduce skin scarring, we hope to not only improve their skin health and quality of life but also support the development of future curative treatments such as gene therapy.

 

Who/what inspired you to work on EB?

The start of my journey into EB research was rather coincidental. After completing an MSc in Biochemistry at the Technical University in Munich, I applied for a PhD position at the Max Planck Institute for Biochemistry in Martinsried in the Group of Prof Reinhard Faessler, Department of Molecular Medicine. At that time I was fascinated by how cells stick to each other and move around during the growth of embryos and when there is a need to repair damage. I got the opportunity to work on a recently characterised protein in the lab called Kindlin-1 that plays an important role in these processes. Besides exploring how Kindlin-1 was functioning inside the cells, I studied its role in skin development and the development of cancer. This work was successful and we published it in Nature Medicine, a prestigious scientific journal. This is when I first learned that loss of Kindlin-1 function in humans leads to the EB subtype Kindler EB. This PhD work motivated me to further specialise into skin stem cell biology by joining the lab of Prof Fiona Watt at King’s College London for my postdoctoral research studies. Here I had the opportunity to visit the EB clinic and talk to a Kindler EB patient about my research, which was a hugely memorable experience and prompted me to continue working on EB as a group leader at QMUL.

 

What does the funding from DEBRA UK mean to you?

Funding from DEBRA UK is incredibly important for us and our research, especially as rare skin diseases such as EB may not be a direct priority for other funders. The generously funded PhD studentships in particular give us the possibility to not only develop new research ideas over a long period of four years, but also to train the next generation of EB scientists and develop focused patient and public engagement activities. Seeing students succeeding and developing their skills throughout their PhD and maturing into highly skilled scientists is an extremely enriching experience for me as PI.  

 

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

My days are very much dominated by meetings with team members, students and colleagues. While I love to be hands on in the lab with students, as a group leader I spend more and more time in the office writing grant applications, scientific papers to inform colleagues of our findings, preparing lectures and dealing with administrative duties. Besides our research, teaching students is an important part of the day. I particularly enjoy meeting with students to discuss their project data and brainstorm new ideas. Good time management, flexibility and resilience are important ingredients to our job. I enjoy that every day is very different and it impossible to get bored.   

 

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

We are an international team of one postdoctoral researcher, five PhD students and one technician working on different aspects of the behaviour of skin cells in health, and in diseases including EB. The postdoc is investigating how different types of fibroblasts influence the symptoms of junctional EB. The DEBRA UK-funded PhD student is exploring the therapeutic potential of changing the behaviour of a specific protein called alpha V beta six integrin in EB. Our technician is helping to establish a new EB disease model in the lab that will provide another way for us to test our ideas about EB. At the Blizard Institute we have a really active support group of junior group leaders who are always able to share valuable advice when needed. Having realised that we comprise quite a few groups working on various aspects of EB, we recently established the QMUL EB Research Hub. This helps us to foster collaborations, facilitates the sharing of data and resources, and lets us brainstorm new ideas. It also means we can provide each other with support for funding applications and sharing our results through scientific publications. Having this unique EB-focused support infrastructure at QMUL is incredibly valuable, not only for group leaders but also for all the team members interested in EB. We are hoping to organise the first EB Research Hub retreat in the near future.

 

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

With two young children, it is never boring at home either and I love to spend a lot of time with my family outdoors. In my free time I like to do sportive activities and you might find me rowing competitively for the Lea Rowing Club in East London or participating in running competitions such as the Hackney Half Marathon.

 

What these words mean:

Connective tissue = cells, proteins and protein fibres that support the body’s organs

Fibroblast = a type of cell found in connective tissue that produces collagen

Kindler EB = the most rarely occurring subtype of EB

Model = a way of carrying out experiments without using people

 

Full glossary of scientific terms