July 2023

DEBRA UK is pleased to report the completion of eight research projects, some part-funded, others exclusively funded by DEBRA UK, in 2022. Find out more about the research projects and how they could improve the quality of life for people living with the painful genetic skin condition, EB, below.

A project on gene therapy for EBS and RDEB laid the foundations for a type of gene therapy called ‘exon skipping’, where the part of the genetic recipe for a protein that contains mistakes is skipped over to allow a working protein to be produced. EB is caused by a vital skin protein being missing or not working properly from birth. Gene therapies aim to correct the instructions so working protein can be made and skin can heal normally.

Itch in DEB was investigated and results suggested that drugs to treat skin inflammation of a type similar to that seen in eczema and psoriasis could be repurposed to reduce EB symptoms and improve quality of life for people living with EB. The skin inflammation in EB appears to be due to specific immune system cells that are involved in wound healing or can change into cancerous cells and our researchers published their advances in understanding this.

Work on a mouth/throat spray treatment was successful in identifying lubricating and anti-scarring potential in a natural substance called carrageenan, and the researchers are now investigating whether they can also help reduce eye symptoms of EB.


The effect of blistered feet on walking with EBS was formally described in a study involving 21 individuals. This lays the groundwork for potential interventions to reduce the impact of EBS on the spine and other joints.

Investigating the drug rigosertib for skin cancer in RDEB was slowed by Covid restrictions as fewer people than planned were recruited, but early results from one participant were promising and the study will continue with funding from other sources.

Our funding also ended for a long term study (PEBLES) gathering information about RDEB with over 360 reviews of symptoms and experiences collected from 65 adults and children. This knowledge can help newly diagnosed families and researchers to understand what living with RDEB is really like and provide evidence to support funding applications and trials. This project will also continue with funding from other sources. 

The PEBLES Team would like to say a big thank you to DEBRA UK for funding the study from 2014-2022!

At DEBRA, we want our members to be at the centre of everything we do, which is why in 2022, we began involving people with lived experience of EB in the process of awarding grant funding.

We thank all those who have helped us decide what research to fund as experts by experience, in addition to the expert scientists and clinicians who also review applications for us. We'd also like to thank our dedicated researchers, members of the EB community who participated and consented for their medical samples to be used for research, and our generous supporters for helping us to fund research and work towards our vision of a world where no one suffers from EB.

You can learn more about the research projects we are currently funding, take part with our research involvement group to help us decide what research we fund, or help support our research by donating today.

Together we can stop the pain for people living with EB.