A team of gene therapy researchers from University College Dublin (UCD) have made developments in finding a cure for the skin disease Epidermolysis Bullosa – EB.
EB is also referred to as the “butterfly” skin disease because those who suffer with it have “skin as fragile as the wings of a butterfly” for which there is currently no cure. Debra Ireland provides help to EB patients and extends support to their families.
Debra Ireland describes EB as an exhausting battle with endless blistering stating “even gentle skin contact causes devastating wounds”.
EB currently affects about 300 people in Ireland and is a result of a fault in the gene which prevents the proper binding of our layers of skin together. The sores and blisters produced by even minimal contact can be internal and external.
The breakthrough solution composed by researchers from UCD uses gene therapy to repair bad cells and create themselves into functioning ones. This breakthrough has the potential to aid a permanent cure for patients with a severe strand of the disease, Recessive Dystrophic EB.
Professor Wenxin Wang, from UCD School of Medicine, has been researching EB for ten years with the help of Debra Ireland. One of the leading gene therapy researchers from Professor Wang’s team, Dr Jonathan O’Keeffe Ahern said “The best of this therapy is that it would not involve painful skin grafting procedures or risks associated with viral treatments in delivering functioning genes to the skin,”.
Referencing the breakthrough as the “‘Fed Ex’ of gene editing”, Dr Jonathan O’Keeffe Ahern describes the process as “using a postcode” to send the programmed repairing gene treatment to where it needs to go. It then cuts out the non-functioning aspect of the gene and the repairing cells are programmed to fill the space and heal the gene.
He added “the gel would be applied, absorbed and go to work. With further research, we could expand this to the other EB types and even other genetic conditions,”.
With more development this technique could be used to help find cures for diseases like cystic fibrosis or Huntington’s disease.
Debra Ireland Head of Research Dr Sinead Hickey said “This is a very exciting time for people involved in EB research. We depend totally on public funding, and we are now at a stage where every euro can make a vital difference to the future lives of people living with this condition,”.
Image Credit: PLOS-Bloggs