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Searching for a new drug treatment for children with a rare debilitating skin condition

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Epidermolysis bullosa simplex (EBS) is a rare genetic condition where the skin becomes very fragile and blisters easily in places where it is rubbed or scratched. Sadly, there is currently no cure – and blistering can cause pain and disability that can severely impact a child’s quality of life. Professor John Connelly of Queen Mary University of London is carrying out laboratory research to improve understanding of the biology of the disease and look for potential drugs that can help improve skin repair. He hopes this will lay the groundwork for the development of an effective new treatment that can help improve the outlook for affected children and their families.

This project is jointly funded by Action Medical Research and DEBRA UK.

How are children’s lives affected now?

Children with EBS tend to develop blisters on their hands and feet, but some also experience more widespread blistering that can affect any part of their body.  In the most severe cases, a child can develop up to 200 blisters in a single day.

“While the symptoms and severity of EBS vary considerably between affected individuals, blistering can severely impact several aspects of children’s lives,” says Professor Connelly. “Painful blisters on the hands and soles of their feet may make it challenging to walk or write – and those that develop inside the mouth and throat can make eating, and sometimes speaking, difficult and painful. The widespread blistering can also make their skin vulnerable to infection.”

As a child with EBS grows up, the skin on their palms and soles of their feet will often thicken, which may make walking or using their hands difficult or painful.

“Sadly, there is currently no cure for EBS,” says Professor Connelly. “Effective new treatments are desperately needed to improve the lives of children with this potentially devastating disease.”

How could this research help?

“We’re aiming to gain a better understanding of the biology of EBS – and to identify potential new drug treatments that could help alleviate a child’s symptoms,” says Professor Connelly.

The researchers have previously discovered distinct microscopic changes in the structure of cells from patients with EBS that they believe may contribute to the symptoms and severity of the condition.

“We will create a 3D laboratory model of human skin using cells from patients with EBS – and use it to test a panel of existing drugs with the potential to modify disease severity,” says Professor Connelly.

They will then carry out further experiments to investigate some of the most promising compounds to understand how they exert their beneficial effects.

“This will be the first step in the development of an entirely new approach for treating EBS,” says Professor Connelly.

“We hope it will ultimately lead to an effective new drug treatment that can help to transform the quality of life of children born with this debilitating skin condition.”

Professor Connelly

Research table

Project details

Project Leader Professor John Connelly, PhD
Location Centre for Cell Biology and Cutaneous Research, Queen Mary University of London
Project Team Professor David Kelsell, PhD
Professor Julien Gautrot, PhD
Other Locations School of Engineering and Materials Science, Queen Mary University of London
Grant Awarded
Grant Amount £199,751
Start Date
End Date
Duration 36 months
Grant Code (GN number) GN2968


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