Prof Jemima Mellerio

Institution(s): St John’s Institute of Dermatology, Guy’s and St Thomas‘ NHS Foundation Trust

Research focus: Naturual history of RDEB and clinical trials

What are your own areas of research, and what insights do these give you on EB? 

I have been leading a research project called PEBLES (Prospective EB Longitudinal Evaluation Study) for a number of years with my team in London. This is a way of exploring the natural history of all forms of recessive dystrophic EB, looking at objective clinical information, subjective measures of itch, pain and quality of life, laboratory parameters and important socioeconomic data. The objective is to explore how each type of EB changes over time, to provide detailed information about the likely disease trajectory, as well as to help identify important outcome measures for future clinical trials. This information should serve as a helpful resource to all EB researchers in the future and is a model we would like to extend to other centres and other EB subtypes.

Where do you see the biggest contributions research can make to improving options for people with EB? 

Ultimately, research is the only way to make real progress towards finding better treatments and support for people living with EB. Although we have learnt so much over recent decades about the underlying gene and protein pathology in different types of EB, in the clinic we still currently have just supportive treatments rather than interventions that can really impact the course of disease. By taking what we know at a basic science level, using this to develop new therapies, and putting these to the test in rigorous clinical trials, we are starting to edge much closer than ever before to be able to deliver treatments that can make a tangible difference to people with EB.

What are the current most urgent research questions, both in basic knowledge and translational research? 

There’s a lot we need to discover about genetic and epigenetic modifying factors in EB, to explain why individuals with a very similar or identical genetic cause for their EB may vary so much in terms of disease severity or how they respond to treatments. In terms of translational research, there are a number of really exciting avenues for gene therapy and gene editing that are likely to impact on disease course. The area of cancer in EB is also a massively important one, to understand it at a molecular level, and to use this information to develop preventative startegies and more effective treatments.

DEBRA and EB Resnet members are grateful for your dedication to helping people with EB; what do you find rewarding about being a member of EB Expert Panel? 

In the many years I’ve been involved in DEBRA and have served as an Expert Panel member, I have been enormously impressed with the quality of research proposals that have come for review covering so many different areas of basic science and translational research. It’s been inspiring to witness the incremental discoveries through the work that DEBRA has funded that have moved the EB research community collectively closer and closer to new discoveries and novel treatments.