On Friday the BBC broadcast a moving report about a young girl named Sohana Collins, who suffers from the painful and life threatening genetic disorder epidermolysis bullosa (EB), caused by mutations in the type VII collagen gene (Col7a1). The report also included an interview with Prof John McGrath, Professor of Molecular dermatology at Kings College London, who is leading a clinical trial EBSTEM of mesenchymal stem cell therapy for EB that Sohana is part of, who spoke about the potential for this therapy to help people with EB. Sohana Collins, who is participating in the EBSTEM trial. Image: BBC News Type VII collagen (col7) is a key component of the basement membrane of the skin, a layer of protein structures that acts as a kind of cement that binds the outermost layer of the skin the epidermis to the underlying dermal layer, and lack of clo7 leads to the two layers to move independently of each other. This shearing movement at the dermal-epidermal junction hasthe result that even the slightest injury can lead to blisters and sores, and people with EB have a very high risk of developing skin cancers. The EBSTEMtrial seeks to determine if infused mesenchymal stem cells … Continue reading
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