Clinical Snippets

Two papers in this issue highlight gene therapy for  skin fragility diseases. March and colleagues employed the transcription activator-like effector nuclease to disrupt dominant-negative epidermolytic ichthyosis–causing mutations in keratin 10 (KRT10) alleles in keratinocytes, showing abrogation of disease phenotypes in a murine model. Takashima and colleagues employed a different nuclease system, CRISPR/Cas9, to co-opt non-homologous end-joining to correct a common frameshift mutation in one of the alleles of the collagen type VII (COL7A1) gene, restoring COL7A1 expression in recessive dystrophic epidermolysis bullosa fibroblast cell lines and COL7A1 function and distribution in vivo.
Source: Journal of Investigative Dermatology - Category: Dermatology Tags: Editorial Source Type: research