Researchers at University College Dublin have produced a gene therapy solution for one of the most severe sub-types of epidermolysis bullosa.
Irish researchers have announced a breakthrough in the search for a cure for a painful skin disease. Epidermolysis bullosa (EB) is a genetic condition in which sufferers lack a vital protein responsible for binding skin.
This results in painful blisters – both internal and external – from the slightest knock or bump. The disease affects approximately 300 people in Ireland.
Researchers at University College Dublin (UCD) say they have now produced a solution that uses gene therapy to repair bad cells.
The breakthrough has the potential to provide a permanent cure for patients with Recessive Dystrophic EB, one of the most severe sub-types of the disease, for which no treatment currently exists.
The concept has been pioneered by Prof Wenxin Wang, who has been carrying out research into EB for the past 10 years, with assistance from the charity Debra Ireland.
‘The FedEx of gene editing’
Dr Jonathan O’Keeffe Ahern, one of the leading gene therapy researchers in Wang’s team, said one of the greatest benefits of the solution is that it removes the need for painful surgery.
“The best part 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,” he said.
“We call this the FedEx of gene editing – we deliver a biological solution using a simple carrier system.
“Rather like using a postcode, we can send in a genetic scissors to cut out the non-functioning part of a gene and then the repaired cells know to fill that space and permanently repair the gene.
“We would not need to even take the patient cells for skin grafting. The gel would be applied, absorbed and go to work.
“We have seen some promising results in the lab. With further research, we could expand this to other EB types and even other genetic conditions. We are in the process of forming our own spin-out company to continue to develop this technology and take it to the next step, a clinical trial.”
National EB Awareness Week
Debra Ireland provides day-to-day help and support for EB patients and their families, and also works to find better treatments and possible cures for EB.
This week (21 to 27 October) is National EB Awareness Week and the charity is asking the public to get involved by wearing a butterfly tattoo to raise awareness for this rare disease and funds for further research.
“We are asking people to help by picking up a Debra Ireland butterfly tattoo at any Applegreen service station and texting the word BUTTERFLY to 50300 to make a €4 donation,” said Debra Ireland head of research Dr Sinead Hickey.
“This is 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 the condition.”
– PA Media