title: Genome editing for inborn errors of metabolism: advancing towards the clinic.
abstract: Inborn errors of metabolism (IEM) include many disorders for which current treatments aim to ameliorate disease manifestations, but are not curative. Advances in the field of genome editing have recently resulted in the in vivo correction of murine models of IEM. Site-specific endonucleases, such as zinc-finger nucleases and the CRISPR/Cas9 system, in combination with delivery vectors engineered to target disease tissue, have enabled correction of mutations in disease models of hemophilia B, hereditary tyrosinemia type I, ornithine transcarbamylase deficiency, and lysosomal storage disorders. These in vivo gene correction studies, as well as an overview of genome editing and future directions for the field, are reviewed and discussed herein.
authors.affiliation: Department of Biomedical Engineering, SUNY Stony Brook, Stony Brook, NY, USA.|Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Building 10, Room, 7N248A, Bethesda, MD, USA.
authors.forename: Jessica L
authors.initials: JL
authors.lastname: Schneller
authors.affiliation: Department of Bioengineering, Rice University, 6500 Main Street, Houston, TX, 77030, USA.
authors.forename: Ciaran M
authors.initials: CM
authors.lastname: Lee
authors.affiliation: Department of Bioengineering, Rice University, 6500 Main Street, Houston, TX, 77030, USA.
authors.forename: Gang
authors.initials: G
authors.lastname: Bao
authors.affiliation: Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Building 10, Room, 7N248A, Bethesda, MD, USA. venditti@mail.nih.gov.
authors.forename: Charles P
authors.initials: CP
authors.lastname: Venditti
mesh_terms: D000072669:Gene Editing / Q000379:methods*; D015316:Genetic Therapy / Q000379:methods*; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000235:genetics*
keywords: CRISPR/Cas9; Genome editing; Inborn errors of metabolism; Liver metabolic disorders; Zinc-finger nucleases