Director of Fundraising, Hugh Thompson, Co-Vice Chair of Trustees, Carly Fields and Director of Research, Dr Sagair Hussain on stage at Members Weekend 2022. 

Contents:

• Researching a rare disease
• What types of research does DEBRA UK fund?

 

DEBRA is the largest UK funder of Epidermolysis Bullosa (EB) research. We have invested over £20m and have been responsible, through funding pioneering research and working internationally, for establishing much of what is now known about EB.

This is our first research strategy to focus on impact and on what matters to people living with EB. Our ambition is to find and fund treatments to lessen the day-to-day impact of EB, and cures to eradicate EB.

Our new strategy puts patient outputs front and centre, with a focus on translational research that will have a positive impact on those with EB today. We will fund science of the highest quality across the world that has the potential to deliver for EB patients.

Our four overarching research priorities are those we view most likely to deliver outputs for people living with EB. They are:

• Invest in drug re-purposing and develop drug discovery programmes to accelerate finding treatments.
• Increase investment in patient-centred research themes.
• Continue to invest to understand better the causes and progression of EB and the role of the immune system.
• Invest heavily in the next generation of EB researchers.

Diagram demonstrating our research strategy.

We are calling on the scientific community, funders and our industry partners to come and join us on this journey to accelerate EB research innovation.

Applications are welcome from all disciplines committed to improving the lives of people with EB.

Contact [email protected].

Read the full strategy here

 

Researching a rare disease

 

Our research strategy takes account of the status of EB as a ‘rare disease’. Recruiting hundreds or thousands of people with EB to take part in phase 3 clinical trials is challenging. Recouping the cost of developing a new treatment, however life-changing it may be for families with EB, may be more difficult for investors if the number of users is small.  Understanding the causes of EB and repurposing treatments that are already safely in use by people with other, similar conditions is a key part of our strategy. 

 

What types of research does DEBRA fund?

To decide which research projects should be funded by DEBRA UK, we have four areas that we think will be most likely to help families suffering with EB.

 

Using existing medicines (drug repurposing) or finding new ones (drug discovery). 

Treatments that have already been shown to be safe and reduce symptoms of other conditions can be tested on EB symptoms.

Research on EB, eczema, psoriasis, skin cancer or other skin conditions might help to find treatments to slow, stop and/or reverse symptoms of EB.

 

Research on the specific symptoms families with EB tell us most affect their lives. 

Our bodies are made up of lots of different proteins working together. Depending on which individual protein is broken, and how broken it is, we get a different type of EB with different symptoms. 

• Skin symptoms include painful blistering that can affect walking/mobility and cause infections, scarring, thickening of skin and nails, fusion of toes/fingers and hair loss. 
• The chance of getting skin cancer (Squamous Cell Carcinoma, SCC) is increased for some people with Dystrophic EB. 
• The surface of the eyes can be affected causing sore/dry eyes and loss of sight.
• The lining of mouth, throat and nostrils can be affected by blistering causing difficulty with chewing, swallowing and speaking that can lead to malnutrition, anaemia, delayed growth and breathing difficulties. 
• Tooth enamel may not form as expected and it may be difficult to clean teeth effectively due to pain from blisters inside the mouth. 
• Pain and itch are key symptoms.

 

Basic science

Researching the causes of EB and what makes it get worse or better over time. 

Understanding the causes of EB symptoms in terms of cells and proteins will help future researchers to make good choices about new medicines and treatments.

 

Encouraging new scientists, doctors and nurses to study EB. 

We need the best researchers to know about EB and have the opportunity to carry out research that will help us to fight EB.

 

Read about the EB research projects we are currently funding.