Gene expression analysis in recessive dystrophic epidermolysis bullosa skin highlights drug repurposing opportunities to improve wound healing

The molecular basis to the chronic inflammation and scarring in RDEB skin has been partially characterized but the current data on cytokine, chemokine, matrix and cell pathologies in RDEB skin have yet to yield new interventional therapies for patients. Here we performed a detailed assessment of RDEB wound gene expression in combination with a reverse transcriptomics analysis which indicate genes and drugs that could promote wound healing in RDEB. We collected 4mm punch biopsies of whole skin from the edge of chronic wounds in RDEB subjects (EBw), 6 samples from intact/normal skin from the same RDEB individuals (EBn), and 6 samples from healthy controls (HC) matched for age, sex, ethnicity, body site, and time of biopsy. Samples were homogenised using a hand-held Polytron in lysis buffer, and RNA was extracted and quantified. Gene expression profiling was performed using the Illumina whole-genome expression array HumanHT-12 v4.0 Expression BeadChip.