Engineering of a bespoke CRISPR base editor to treat a severe vascular disease

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Research BriefingPublished: 15 September 2025Nature Biomedical Engineering (2025)Cite this articleSubjectsCRISPR-Cas9 genome editingGenetic engineeringTargeted gene repairWe developed a customized base editing strategy to efficiently, precisely and safely correct the most common ACTA2 pathogenic mutation in multisystemic smooth muscle dysfunction syndrome. In vivo delivery of the bespoke base editor prolongs survival and rescues systemic phenotypes in a mouse model of multisystemic smooth muscle dysfunction syndrome.This is a preview of subscription content, access via your institutionAccess optionsAccess Nature and 54 other Nature Portfolio journalsGet Nature+, our best-value online-access subscription27,99 € / 30 dayscancel any timeLearn moreSubscribe to this journalReceive 12 digital issues and online access to articles118,99 € per yearonly 9,92 € per issueLearn moreBuy this articlePurchase on SpringerLinkInstant access to full article PDFBuy nowPrices may be subject to local taxes which are calculated during checkoutFig. 1: Development of a bespoke base editor to treat a genetic disease.ReferencesMilewicz, D. M. et al. De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. Am. J. Med. Genet. A 152A, 2437–2443 (2010). This paper reports the characterization of MSMDS as resulting from mutations in ACTA2.Article  PubMed  PubMed Central  Google Scholar Gaudelli, N. M. et al. Programmable base editing of A•T to G•C in genomic DNA without DNA cleavage. Nature 551, 464–471 (2017). This paper reports the development of ABEs, which catalyse adenine to guanine base edits.Article  CAS  PubMed  PubMed Central  Google Scholar Kleinstiver, B. P. et al. Engineered CRISPR-Cas9 nucleases with altered PAM specificities. Nature 523, 481–485 (2015). This paper reports the engineering of an SpCas9 variant enzyme that can target a non-canonical PAM, which expands ABE accessibility to genomic target sites with NGA PAMs.Article  PubMed  PubMed Central  Google Scholar Silverstein, R. A. et al. Custom CRISPR–Cas9 PAM variants via scalable engineering and machine learning. Nature 643, 539–550 (2025). This paper combines protein engineering and machine learning to develop a large catalogue of thousands of bespoke PAM-specific enzymes for use with base editors.Article  CAS  PubMed  Google Scholar Musunuru, K. et al. Patient-specific in vivo gene editing to treat a rare genetic disease. N. Engl. J. Med. 392, 2235–2243 (2025). This report describes the rapid development of a bespoke treatment, comprising a customized ABE, for an infant with a severe metabolic disease.Article  CAS  PubMed  Google Scholar Download referencesAdditional informationPublisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.This is a summary of: Alves, C. R. R. et al. Treatment of a severe vascular disease using a bespoke CRISPR–Cas9 base editor in mice. Nat. Biomed. Eng. https://doi.org/10.1038/s41551-025-01499-1 (2025).Rights and permissionsReprints and permissionsAbout this article