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A new strategy of genetic editing brings us closer and closer to clinical research in “butterfly” skin

Piel de mariposa
Thursday, April 25, 2019

A paper published in the journal Molecular Therapy and led by Marcela del Río's CIBERER group demonstrates the efficacy of a genetic editing strategy in human cell lines to treat recessive dystrophic epidermolysis bullosa dystrophy, better known as “butterfly” skin. This novel approach has enabled the safe and effective correction of more than 80% of damaged cells, an unusually high percentage that had not been achieved with the methods used so far.

Recessive dystrophic epidermolysis bullosa is an aggressive type of epidermolysis bullosa, which causes skin fragility leading to the formation of blisters and wounds on the skin and internal mucous membranes, and a high predisposition to develop cancer among other complications. The skin of patients is as fragile as the wings of a butterfly, hence its name. This genetic disease is complicated to manage because it requires daily cures and specialized care to perform daily tasks and avoid wounds and other skin damage. Butterfly skin is caused by a mutation in the COL7A1 gene, which codes for a protein called collagen 7, fundamental for the union of two layers of skin called dermis and epidermis. 

Using the CRISPR/Cas9 genomic repair system, the researchers successfully removed the mutated part of the COL7A1 gene in a skin stem cell culture of patients with recessive dystrophic epidermolysis bullosa. It was proven that the technique was safe and that transplanting healthy tissue to a model of disease-carrying mice was able to result in completely normal tissue regeneration. This new system falls within the so-called non-viral genomic editing techniques, as they do not require a virus to deliver the corrected DNA sequence to all target cells. 

The results of this study are encouraging, as they bring us closer to the clinical phase in the investigation of epidermolysis bullosa, a disease that in Spain alone affects more than 1,000 people, most of them minors.

Access to the original article: Clinically relevant correction of recessive dystrophic epidermolysis bullosa by dual sgRNA CRISPR/Cas9-mediated gene editing | Molecular Therapy


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