Professor Jakub Tolar

The researchers are working to characterize the skin environment of patients with Recessive Dystrophic Epidermolysis Bullosa (RDEB) in order to inform and improve treatment outcomes. Current work includes single-cell RNA-seq of patient fibroblasts, bulk RNA-seq of RDEB patient squamous cell carcinomas, and targeted resequencing of gene-corrected samples and of the gene responsible for RDEB, COL7A1. There are also several other sequencing projects for studying other diseases, such as ataxia, Fanconi anemia, and organ transplant-related squamous cell carcinoma. This lab produces a significant amount of sequencing data and use MSI systems to analyze these data.