May 2024

DEBRA UK is pleased to report the completion of seven research projects, some part-funded and others exclusively funded by DEBRA UK, in 2023. The outcomes of these research projects could improve the quality of life for people living with the painful genetic skin condition, epidermolysis bullosa (EB).

Two projects in Italy, co-funded with DEBRA Austria, were completed in 2023 with promising results for drug repurposing. Prof Zambruno’s work on nirogacestat and Dr Castiglia’s work on givinostat and valproic acid suggested that these medications may be repurposed to treat symptoms of recessive dystrophic EB (RDEB) that affect eyes, hair and skin. You can read Dr Castiglia’s blog about his work here.

Two projects based in Birmingham, UK also finished in 2023. One culminated in the training of a new EB expert, Dr Ajoy Bardhan in Prof Adrian Heagerty’s laboratory. In the other, Prof Chapple collected skin swabs and samples of blood and blister fluid to show that there are changes in white blood cells called neutrophils and in the numbers and types of bacteria on the skin of people with EB. Work from the Birmingham laboratories was published in a scientific journal and covered in plain language here.

   

Dr Liao’s project in New York finished in 2023 with results showing that an immune system molecule called interleukin-1 (IL-1) is involved in RDEB symptoms. This means that medicines to reduce the amounts of this molecule could be repurposed to treat EB. Dr Liao also studied how the chronic damage to RDEB skin cells due to their lack of collagen 7 protein made them susceptible to cancer. Her work was published in a scientific journal and explained in plain language here.

Another project on RDEB skin cancer in Glasgow, UK, also finished in 2023 with promising results for selecting anti-cancer drugs to repurpose. Prof Inman’s project identified molecules that RDEB cancer cells need in order to multiply. His work showed that this cancer cell growth could be slowed down using commercially available medicines that interfere with these molecules. His work was published in a scientific journal and we continue to fund Prof Inman to screen and test anti-cancer treatments for RDEB.

Finally, a project on airway disease at Great Ormond Street Hospital in London showed that, while some babies with damage to their airways had EB simplex (EBS) or dystrophic EB (DEB), airway symptoms were most often associated with junctional EB (JEB). Airway cells from these patients were grown in the laboratory and had the broken laminin gene replaced. This research by Mr Colin Butler and Dr Rob Hynds showed that genetically corrected cells could be used to grow airway grafts to help children whose breathing is affected by EB. This work was published in a scientific journal and covered in plain language here. You can read Rob’s blog article about his work here.

At DEBRA UK, we want our members to be at the centre of everything we do. In 2023 we continued to build on our success of involving people with lived experience of EB in our process of awarding grant funding and in 2024 held our first Application Clinic to bring researchers and people living with EB together. 

Thank you to 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.

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 BE the difference for EB.