50% of the people in Spain with dystrophic recessive Epidermolysis bullosa (EB) share the same genetic mutation in a very specific gene.  The consequence of this mutation is that the collagen protein does not develop correctly.  This affects the skin structure and the adhesion between the layers of the skin, leading to blistering and open wounds. 

An encouraging new study has demonstrated that it is possible to correct the faulty genes. The procedure (CRISPR/Cas9)which involves the use of skin grafts has now been tested on rats and these have shown extremely promising results, with up to 80% of regenerated healthy cells maintaining their resistance to blistering. 

Unlike in previous related studies this specific one has shown a very high rate of cell regeneration.  This news is particularly promising as it demonstrates that the method is safe to use and could be effective for patients, leading the way for more comprehensive research and further developments. 

The extensive research and the results from the study are possible thanks to the continued involvement and funding from the DEBRA International network and other entities. This study takes us a step further in our aim to support and care for patients with EB and ultimately to find a cure for this debilitating and painful condition.