Exon Skipping to Treat NF1

Most currently available drugs to treat neurofibromatosis type I (NF1) are targeted at tumors. As with many chemotherapies, they tend to have toxic side effects. Antisense directed gene therapy and, more specifically, exon skipping is known to be a successful therapeutic strategy for other diseases. Antisense directed gene therapy causes cells to “skip” over faulty pieces of the genetic code, leading to a truncated but still functional protein despite the genetic mutation. In this project, we explore how antisense directed gene therapy could be utilized to treat NF1. We have begun to identify exons, the coding part of genes, within the NF1 transcript that we believe may be skipped and still maintain gene function. Ideally, exon skipping could be used clinically to treat NF1 patients that harbor mutations in non-critical regions of the gene.