{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T16:55:29Z","timestamp":1789059329514,"version":"build-2803163510"},"reference-count":68,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2022,8,1]],"date-time":"2022-08-01T00:00:00Z","timestamp":1659312000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["The CRISPR Journal"],"published-print":{"date-parts":[[2022,8,1]]},"abstract":"<jats:p>\n                    Rett syndrome (RTT) is a rare neurogenetic disorder caused by pathogenic variants of the Methyl CpG binding protein 2 (\n                    <jats:italic toggle=\"yes\">MECP2<\/jats:italic>\n                    ) gene. The RTT is characterized by apparent normal early development followed by regression of communicative and fine motor skills. Comorbidities include epilepsy, severe cognitive impairment, and autonomic and motor dysfunction. Despite almost 60 clinical trials and the promise of a gene therapy, no cure has yet emerged with treatment remaining symptomatic. Advances in understanding RTT has provided insight into the complexity and exquisite control of\n                    <jats:italic toggle=\"yes\">MECP2<\/jats:italic>\n                    expression, where loss of expression leads to RTT and overexpression leads to\n                    <jats:italic toggle=\"yes\">MECP2<\/jats:italic>\n                    duplication syndrome. Therapy development requires regulated expression that matches the spatiotemporal endogenous expression of\n                    <jats:italic toggle=\"yes\">MECP2<\/jats:italic>\n                    in the brain. Gene editing has revolutionized gene therapy and promises an exciting strategy for many incurable monogenic disorders, including RTT, by editing the native locus and retaining endogenous gene expression. Here, we review the literature on the currently available editing technologies and discuss their limitations and applicability to the treatment of RTT.\n                  <\/jats:p>","DOI":"10.1089\/crispr.2022.0020","type":"journal-article","created":{"date-parts":[[2022,7,26]],"date-time":"2022-07-26T15:45:45Z","timestamp":1658850345000},"page":"490-499","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":11,"title":["Gene Editing and Rett Syndrome: Does It Make the Cut?"],"prefix":"10.1177","volume":"5","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9369-0965","authenticated-orcid":false,"given":"Bronte","family":"Coorey","sequence":"first","affiliation":[{"name":"Faculty of Medicine and Health, School of Medical Sciences, The University of Sydney, Sydney, Australia; Military Institute of Medicine, Warsaw, Poland."},{"name":"Molecular Neurobiology Research Laboratory, Kid's Research, Westmead, Australia; Military Institute of Medicine, Warsaw, Poland."},{"name":"Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, Australia; Military Institute of Medicine, Warsaw, Poland."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florencia","family":"Haase","sequence":"additional","affiliation":[{"name":"Faculty of Medicine and Health, School of Medical Sciences, The University of Sydney, Sydney, Australia; Military Institute of Medicine, Warsaw, Poland."},{"name":"Molecular Neurobiology Research Laboratory, Kid's Research, Westmead, Australia; Military Institute of Medicine, Warsaw, Poland."},{"name":"Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, Australia; Military Institute of Medicine, Warsaw, Poland."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolyn","family":"Ellaway","sequence":"additional","affiliation":[{"name":"Genetic Metabolic Disorders Service, Sydney Children's Hospital Network Sydney, Westmead, Australia; Military Institute of Medicine, Warsaw, Poland."},{"name":"Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Sydney, Australia; Military Institute of Medicine, Warsaw, Poland."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angus","family":"Clarke","sequence":"additional","affiliation":[{"name":"Division of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff, United Kingdom; Military Institute of Medicine, Warsaw, Poland."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leszek","family":"Lisowski","sequence":"additional","affiliation":[{"name":"Translational Vectorology Research Unit, Children's Medical Research Institute, The University of Sydney, Westmead, Australia; Military Institute of Medicine, Warsaw, Poland."},{"name":"Vector and Genome Engineering Facility, Children's Medical Research Institute, The University of Sydney, Westmead, Australia; and Military Institute of Medicine, Warsaw, Poland."},{"name":"Laboratory of Molecular Oncology and Innovative Therapies, Military Institute of Medicine, Warsaw, Poland."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy A.","family":"Gold","sequence":"additional","affiliation":[{"name":"Faculty of Medicine and Health, School of Medical Sciences, The University of Sydney, Sydney, Australia; 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