World Cancer Day 2025
None of us want to imagine ourselves or our loved ones developing cancer. Unfortunately patients with recessive dystrophic epidermolysis bullosa (RDEB) can be at increased risk of developing a skin cancer called cutaneous squamous cell carcinoma. This is a non-melanoma skin cancer with a lower likelihood of spreading to other parts of the body than melanoma.
There is hope though.
This World Cancer Day (4th February 2025), we’re highlighting the research projects we fund to understand more about the progression of cancer in EB, and to investigate opportunities for future drug development to treat skin cancer.
Partnering with Cancer Research UK
In 2024 we began a partnership with Cancer Research UK Scotland Institute that will run for five years and generate new models for testing RDEB cancer treatments. Prof Gareth Inman at CRUK is also heading a drug repurposing project that began screening over 3000 approved drugs in 2023 to identify those that kill cancer cells without harming non-cancer cells. Those that pass the screening will be subject to further testing to generate evidence to support their use in future drug repurposing clinical trials. We have also funded him to recruit a PhD student in 2025 who will participate in this project and become an expert in these methods of EB research. This work builds on an earlier project that we funded from 2019-2023 in which Prof Inman identified substances that could slow the growth of RDEB cancer cells.
Repurposing statins for RDEB skin cancer, EB House, Austria
Dr Roland Zauner began this project at the EB House, Austria, in 2024 to provide the evidence needed for repurposing statins as a treatment for RDEB skin cancer before a clinical trial can be carried out in people. Read more about Dr Zauner in his blog
Preliminary screening and experiments suggested that statins have the potential to treat RDEB cancer and this research aims to show that they do kill EB cancer cells in the laboratory, how they do this, and to see if this translates into actually eliminating tumours.
“Our primary aim in this project is to investigate and evaluate the efficacy of statin-class drugs in slowing the growth and/or elimination of tumor cells. Our choice to prioritise repurposing already approved drugs over screening for new, patentable drugs is patient-centric and motivated by the urgent need for additional therapeutic options for the treatment of RDEB-tumors, as the use of existing drugs allows for an accelerated research process.”
Dr Roland Zauner
Dr Zauner will be the speaker at our Research and Health webinar on Wednesday 5 February 2025 titled: Exploring drug discovery in EB. Come along to listen and ask your questions about targeted therapies for EB, drug screening to identify new EB treatments and new technological trends in drug discovery.
DEB cancer and mouth wound healing, Queen Mary University, London
Dr Inês Sequeira began a three-year DEBRA funded project at Queen Mary University, London in 2024 that aims to understand scarless healing and cancer resistance in DEB.
Wounds in the mouth should heal quickly, but this is not the case in DEB. However, even people with DEB rarely get cancers occurring inside their mouths. By comparing cells lining the mouth in people with and without DEB and by comparing mouth lining to skin, this project hopes to identify ways to help EB wounds heal and prevent them from progressing to non-healing chronic wounds or cancer.
“There is an acute need to translate our understanding of RDEB biology into an ability to detect, predict, or prevent the degeneration of an acute wound into a non-healing fibrotic site and into a tumour.”
Dr Inês Sequeira
Dr Sequeira will be the speaker at our Research and Health webinar on Wednesday 5 March 2025 titled: RDEB scarring and cancer in the era of multiomics. Our webinars are open to all and our speakers aim to use plain language but will provide the opportunity to understand EB research and healthcare in greater depth
Detecting cancer in RDEB wounds, St John’s Institute of Dermatology, KCL, UK
Prof McGrath began a three-year project in 2022 to detect RDEB cancer without invasive biopsies. His PhD student, Marija Dimitrievska, explains more in a blog about the work that involves a technique where light is shone onto the skin and the use of nanoneedle patches.
“Our project hopes to develop a new bedside tool which can use painless nanoneedle sampling to generate nanobiopsy material which can then be evaluated to generate data which give a better indication of whether SCC is present and whether a skin biopsy is needed or not.”
Prof McGrath
KEB and skin cancer, Edinburgh, UK
The rarest type of EB is caused by genetic changes that mean the Kindlin-1 protein doesn’t work properly. People with this form of EB have skin that blisters and sunburns easily and an increased risk of skin cancer. We funded Prof Valerie Brunton, at the University of Edinburgh, UK, from 2020 to 2024 to study how the growth and spread of skin cancer is related to Kindlin-1 protein. This project has now ended and the results have been published in the scientific journal, Oncogenesis.
Prof Brunton’s researcher, Dr Carrasco has written a blog for DEBRA UK about her work on this project and shares some insights in a video here.
“Our research has uncovered important changes in the tumour microenvironment (the normal cells and molecules that surround and support the growth of tumour cells), that are controlled by Kindlin-1. By studying these changes, we hope to gain a better understanding of how we can prevent the development and progression of skin cancer in patients with Kindler syndrome.”
Prof Valerie Brunton
We unite with the global community on World Cancer Day to highlight our ongoing focus on researching EB cancer. With the help of our supporters and fundraisers, we can continue to fund research on detection, prevention and the development of treatments for cancer.