tolarj

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.