"Severe Intractable Skin Disease Epidermolysis Bullosa, Gene Therapy Potential Confirmed"

[Asia Economy Reporter Lee Gwan-joo] A joint research team consisting of Professor Lee Sang-eun's dermatology team at Yonsei University Gangnam Severance Hospital and Professor Bae Sang-soo's biochemistry team at Seoul National University College of Medicine announced on the 3rd that they have confirmed the possibility of treating the severe intractable genetic skin disease 'dystrophic epidermolysis bullosa' using the latest gene-editing technology.

Dystrophic epidermolysis bullosa is a skin disease caused by a genetic defect in type VII collagen, a major component that connects the epidermis and dermis of the skin. Even mild everyday friction causes blisters and wounds on the skin and mucous membranes. In severe cases, serious symptoms such as squamous cell carcinoma of the skin, dysphagia, chronic anemia, and internal organ failure may accompany.

Until now, treatment has relied on symptomatic therapy, but recently, research on new treatments has been actively conducted. In particular, gene therapy enables fundamental treatment, and 'ex vivo gene-corrected autologous cell therapy' is a groundbreaking treatment method that corrects mutated genes in cells derived from the patient and then reintroduces them into the patient.

The research team succeeded in correcting two of the most common mutations in the COL7A1 gene, which expresses type VII collagen, using adenine base editing and prime editing methods on skin fibroblasts collected from patients in Korea.

Professor Lee Sang-eun said, “Through this research result, it is expected that the development of gene-corrected autologous cell therapy that is more precise, effective, and safe than existing gene-editing tools will be possible,” and added, “Based on this preclinical study, we hope it will lead to clinical research involving patients in the future.”

This study was featured as the cover paper of the August issue of 'Molecular Therapy,' a leading international journal in the field of gene therapy.

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