DebRA reaches £10m research milestone
DebRA has invested £10m in research over the last 30 years. Following a recent review of DebRA's progress, the charity's CEO Ben Merrett believes that is more important than ever to continue that investment.
"In the UK we have just passed the significant historic milestone of investing £10m in research over the last 30 years. There about 500,000 people affected by this appalling condition worldwide and trying to unravel the complexities of the human EB genes is a global challenge.
In the laboratory, EB mouse skin has been successfully genetically corrected and proof of principle for gene therapy of EB in humans has been demonstrated with the work done by Prof Mavilio and Prof De Luca in Italy. For one patient with Junctional EB, stability of the skin has been maintained for three years after successful skin grafting.
Considerable progress has also been made with various types of cell therapy. This approach could result in systemic treatments which treat the whole-body rather than localised treatment by skin grafts.
We have several research groups around the world experimenting with injections of cells into the skin or bloodstream of animals and humans. It appears that wounds are targeted and some wound healing happens but we do not fully understand how yet!
In the UK Prof John McGrath has pioneered fibroblast injections and in Chile Dr Francis Palisson is doing world-leading early stage human trials with bone marrow-derived stem cells. The injected cells do not survive for long so the improvements are transient. More research is required to improve on what has been achieved.
In the USA bone marrow transplantation is becoming more of a possibility. One of the three patients in a trial has shown some skin strengthening although this has not been repeated with the other two.
The UK pioneered prenatal diagnosis for more severe forms of EB and this has been very successful for a number of years. This service can only currently be offered when the identification of EB has been made after a couple have had their first child. However, pre-implantation genetic diagnosis is now becoming available as a subsequent option for IVF. Testing for the EB gene can now be made at the eight-cell stage. Selection and implantation of eggs without the rogue EB gene is now possible.
These advances are significant and were unimaginable ten years ago. Everybody who becomes aware of the impact of EB agrees that our research is essential and EB will not go away during the troubled current economic climate. Achieving a £10m research milestone in the UK has been a tremendous achievement that has only been possible thanks to the time, effort and money that our supporters have given. With light now visible at the end of the tunnel, it is imperative that we continue to raise money for such a worthwhile cause."