Project abstract for group tolarj

Recessive Dystrophic Epidermolysis Bullosa, Gene Editing

Recessive dystrophic epidermolysis bullosa (RDEB) is a debilitating skin disease caused by functional mutations in the COL7A1 gene coding for type VII collagen (C7), the major component of anchoring fibrils that attach the dermis to the epidermis. Lack of C7 causes extreme skin fragility resulting in blistering wounds covering large areas of the body. Over time, continuous wounding results in syndactyly of the fingers and toes and narrowing of the esophagus. Median survival is 30 years as patients are at high risk for malnutrition and anemia, deadly infections, and aggressive squamous cell carcinoma.

These researchers are working to characterize the skin environment of patients with RDEB in order to inform and improve treatment outcomes. Current work includes single-cell RNA-seq of patient fibroblasts, bulk RNA-seq of patients who have developed squamous cell carcinoma, and targeted resequencing on gene-corrected samples.

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