Molecular Scalpels: The Future of Pediatric Craniofacial Surgery?
Journal
Plastic and reconstructive surgery
ISSN: 1529-4242
Titre abrégé: Plast Reconstr Surg
Pays: United States
ID NLM: 1306050
Informations de publication
Date de publication:
01 08 2023
01 08 2023
Historique:
medline:
31
7
2023
pubmed:
14
3
2023
entrez:
13
3
2023
Statut:
ppublish
Résumé
CRISPR-Cas genome editing tools are among the most substantial advances in the life sciences in modern history. Single-dose gene therapies to correct pathogenic mutations have moved quickly from bench to bedside, with several therapeutics designed by CRISPR pioneers entering various stages of clinical investigation. Applications of these genetic technologies are poised to reshape the practice of both medicine and surgery. Many of the most morbid conditions treated by craniofacial surgeons are syndromic craniosynostoses caused by mutations in fibroblast growth factor receptor genes, including Apert, Pfeiffer, Crouzon, and Muenke syndromes. The fact that pathogenic mutations in these genes are recurrent in the majority of affected families presents a unique opportunity to develop "off-the-shelf" gene editing therapies to correct these mutations in affected children. The therapeutic potential of these interventions could reshape pediatric craniofacial surgery, potentially first eliminating the need for midface advancement procedures in affected children.
Identifiants
pubmed: 36912935
doi: 10.1097/PRS.0000000000010402
pii: 00006534-202308000-00033
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
409-412Informations de copyright
Copyright © 2023 by the American Society of Plastic Surgeons.
Références
Roh DS, Li EB, Liao EC. CRISPR craft: DNA editing the reconstructive ladder. Plast Reconstr Surg. 2018;142:1355–1364.
Deltcheva E, Chylinski K, Sharma CM, et al. CRISPR RNA maturation by trans-encoded small RNA and host factor RNase III. Nature 2011;471:602–607.
Jinek M, East A, Cheng A, Lin S, Ma E, Doudna J. RNA-programmed genome editing in human cells. Elife 2013;2:e00471.
Cong L, Ran FA, Cox D, et al. Multiplex genome engineering using CRISPR/Cas systems. Science 2013;339:819–823.
Anzalone AV, Randolph PB, Davis JR, et al. Search-and-replace genome editing without double-strand breaks or donor DNA. Nature 2019;576:149–157.
Rees HA, Wilson C, Doman JL, Liu DR. Analysis and minimization of cellular RNA editing by DNA adenine base editors. Sci Adv. 2019;5:eaax5717.
Goriely A, Wilkie AO. Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease. Am J Hum Genet. 2012;90:175–200.
Levy JM, Yeh W-H, Pendse N, et al. Cytosine and adenine base editing of the brain, liver, retina, heart and skeletal muscle of mice via adeno-associated viruses. Nat Biomed Eng. 2020;4:97–110.
Goldstein JA, Paliga JT, Wink JD, Bartlett SP, Nah H-D, Taylor JA. Earlier evidence of spheno-occipital synchondrosis fusion correlates with severity of midface hypoplasia in patients with syndromic craniosynostosis. Plast Reconstr Surg. 2014;134:504–510.
National Academy of Medicine, National Academy of Sciences, The Royal Society. Heritable Human Genome Editing. International Commission on the Clinical Use of Human Germline Genome Editing; 2020.
Timberlake AT, Wu R, Nelson-Williams C, et al. Co-occurrence of frameshift mutations in SMAD6 and TCF12 in a child with complex craniosynostosis. Hum Genome Var. 2018;5:14.
Timberlake AT, Persing JA. Genetics of nonsyndromic craniosynostosis. Plast Reconstr Surg. 2018;141:1508–1516.
Timberlake AT, Jin SC, Nelson-Williams C, et al.; Yale Center for Genome Analysis. Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis. Proc Natl Acad Sci U S A. 2019;116:15116–15121.
Timberlake AT, Furey CG, Choi J, et al. De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis. Proc Natl Acad Sci U S A. 2017;114:E7341–E7347.
Timberlake AT, Choi J, Zaidi S, et al. Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles. Elife 2016;5:e20125.
Timberlake AT, Griffin C, Heike CL, et al. Haploinsufficiency of SF3B2 causes craniofacial microsomia. Nat Commun. 2021;12:4680.
Bishop MR, Diaz Perez KK, Sun M, et al. Genome-wide enrichment of de novo coding mutations in orofacial cleft trios. Am J Hum Genet. 2020;107:124–136.
Newby GA, Yen JS, Woodard KJ, et al. Base editing of haematopoietic stem cells rescues sickle cell disease in mice. Nature 2021;595:295–302.
Koblan LW, Erdos MR, Gordon LB, et al. Base editor treats progeria in mice. Nature. Published online June 18, 2021.