A first step in the development of a new way to treat EBS blisters using substances that change the DNA of skin cells to improve quality of life for children and adults suffering from this condition.


Prof John Connelly works at Queen Mary University, London, UK on this project to study EBS blister healing in the laboratory. A panel of potential treatments will be tested on skin cells grown in dishes in the laboratory to identify those that can change the DNA structure and could be progressed to further testing. Read more about the project from our co-funders and our researcher's blog.


When I was born, Mum noticed little bubble blisters on my feet which got worse when I started to walk… New footwear always rubbed and took the skin off the heels and across the top of the toes...always so sore… at times I am in such pain as I walk around my classroom or in school or even just doing grocery shopping.

 Laverne, DEBRA member living with EBS



About our funding:

Research leader Prof John Connelly
Institution Blizard Institute, Queen Mary University of London, UK
Type of EB EBS
Patient involvement None
Funding amount £199,752 (co-funded with Action Medical Research for Children)
Project length 3 years
Start date 1 September 2023
DEBRA internal ID GR000021


Latest progress summary:

Researchers presented their project as a poster in April 2024.


About our researchers:

Prof John Connelly is a leader in skin mechanobiology and cellular mechano-sensing. His laboratory employs a range of in vitro models to dissect the mechanisms by which skin cells sense and respond to mechanical cues and the role of these signals in skin health and disease.


Prof David Kelsall is an expert in human genetic skin diseases. His laboratory employs genomic and cell biology methods to investigate the pathogenesis of human skin diseases.
Prof Julien Gautrot is an expert in biomaterials, and his lab develops novel materials for cell and gene delivery. In addition, he has expertise in organ-on-chip technology, and his team has engineered new systems for skin modelling and mechanical actuation.

Collaboration: Prof Adrian Heagerty, University of Birmingham.


Why this research is important:

These studies will be the first step in development of a novel approach to treating EBS and would lay the groundwork for the translation of these therapies into patient benefit.

Prof John Connelly

Researcher's abstract:

Grant title: Targeting epigenetic gene regulation in epidermolysis bullosa simplex

Epidermolysis bullosa simplex (EBS) is a rare genetic skin disease caused by keratin mutations in the epidermis, and from birth results in fragile skin that is prone to painful blistering. There is currently no cure for EBS, and new therapies for modifying disease severity have the potential to provide major benefits and improve the quality of life for children and families suffering from this disease. Recent studies by our laboratory have identified distinct changes and in the nuclei of cells with keratin mutations, leading us to hypothesise that nuclear structure and DNA organisation contribute to the symptoms and severity of EBS. Moreover, we propose that the use of existing compounds known as ‘epigenetic inhibitors’, which regulate DNA packaging within the nucleus, have the potential to correct nuclear structure in EBS keratinocytes and improve blister repair. This project therefore aims to characterise the molecular level changes in nuclear organisation caused by EBS mutations and to carry out initial testing of a select panel of epigenetic inhibitors to see if they can improve wound healing and blister resolution in the laboratory. These studies will be the first step in development of a novel approach to treating EBS and would lay the ground work for the translational of these therapies into patient benefit. The next steps following this study will be to select the most effective drugs and carry them forward to further testing and clinical trials.


Researcher's progress report:

Due 2024.


Image credit: Momma’s support your future, by Alex Pasarelu bellefoto. Licensed under the Creative Commons CC0 1.0 Universal Public Domain Dedication.