DEBRA Ireland driving medical research
There is currently no cure for EB and DEBRA Ireland is extremely committed to the support of high quality medical research into the development of treatments and cures. We are currently funding EB research programmes in three centres; Trinity College Dublin, National University of Ireland Galway and Queen Mary's Hospital London. This research is helping to deepen the understanding of the underlying causes of EB and making solid progress towards the development of treatments for the condition. We have a full time Research Manager, Dr. Avril Kennan, in position, to strengthen and develop the research portfolio, to ensure good value for the charity's money and to provide a link between the patient and the research communities. Our policy is to fund only the highest quality research and all DEBRA Ireland grants are allocated on the basis of a rigorous, competitive review process.
The development of therapies for EB will require scientific research into a variety of possible treatment avenues. The research funded by the charity includes several projects into an aggressive form of skin cancer which, for many people living with EB, is the biggest threat to their well-being. We also fund research into the use of novel biomaterials to treat the skin and other affected tissues and the development of a gene therapy for the condition. Skin is the largest organ in the body and as the researchers learn more about the biology of EB, they are also contributing very important knowledge to how the skin functions.
We firmly believe in the power of medical research to give us solutions to the challenges of living with EB. The only question in our minds is, how long will it take? We continue to do everything in our power so that the treatments and cures that people living with EB so desperately need are available sooner rather than later.
DEBRA Ireland's research programme
|Prof. Abhay Pandit|
A biodegradable nanoshell for targeted delivery of type VII Collagen*
|Dr. Wenxin Wang|
Lectureship in Functional Biomaterials §
|Prof. Jane Farrar|
Exploration of therapeutic approaches for dominant dystrophic EB
|Prof Jane Farrar|
Evaluation of RNAi-based therapeutic approaches for dominant dystrophic EB*
Queen Mary's, London
|Prof. Edel O'Toole|
Receptor tyrosine kinase signaling in recessive dystrophic EB SCC
|Prof. Edel O'Toole|
Chemokines and epithelial-mesenchymal transition in recessive dystrophic EB skin cancer
*Co-funded by the HRB through the HRB-MRCG scheme
§Co-funded by Science Foundation Ireland through the Stokes Lectureship scheme
The research in Galway is investigating the use of various novel biomaterials (materials used for medical purposes) in approaches to wound healing and also for delivery of therapeutic drugs. This includes investigations into the potential use of microscopic shells, known as nanoshells, to carry drugs to the affected tissues of EB patients. An experienced biomaterials scientist, Dr. Wexin Wang, has recently joined the team in Galway in a permanent lectureship position, which is co-funded by Science Foundation Ireland (SFI), and will focus his research on treatments for EB.
The research in Trinity is investigating gene therapy strategies to correct the detrimental genetic changes which bring about the condition in individuals with dominant EB. This involves removing the damaging collagen 7 protein from the skin cells and replacing it with a working version of the protein, in an approach termed ‘suppression and replacement'. They are one of the few groups in the world to work on therapies for dominant EB and their results will have implications for gene therapy for all forms of EB.
Queen Mary's Hospital, London
Both the research projects in Queen Mary's Hospital are aimed at understanding why some individuals with recessive dystrophic EB are at an increased risk of developing the squamous cell carcinoma (SCC) form of skin cancer and why they experience such an aggressive form. To answer these questions, the London researchers are analysing changes at the molecular level in tumour cells from EB patients. With DEBRA Ireland funding, they have identified a gene, called Axl, that they believe to be playing a critical role in tumour development. They are currently designing drugs to block Axl, in the hope of preventing the growth of tumours. In addition, the team has found some evidence that molecules known as chemokines may also be playing a critical role in the formation and spread of skin tumours. Chemokines are small molecules that enable cells to talk to one another and are involved in influencing the way cancer cells move from the skin to other organs. Understanding more of the involvement of chemokines in this type of cancer will open up other avenues for therapy.