Genome-editing technologies for gene correction of hemophilia

Human Genetics

Volumn 135, Issue 9, 2016, Pages 977-981

  Park, Chul Yong ^a   Lee, Dongjin R ^a   Sung, Jin Jea ^a   Kim, Dong Wook ^a  

^a Yonsei University College of Medicine   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 9; NEUTRALIZING ANTIBODY;

BLOOD CLOTTING; CELL MANIPULATION; CELL REGENERATION; EX VIVO STUDY; GENE MUTATION; GENE THERAPY; HEMOPHILIA; HUMAN; IN VIVO STUDY; NONHUMAN; PRIORITY JOURNAL; REVIEW; SIGNAL TRANSDUCTION; TARGETED GENE REPAIR; GENE EDITING; HEMOPHILIA A;

GENE EDITING; GENETIC THERAPY; HEMOPHILIA A; HUMANS;

EID: 84976438480     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-016-1699-x     Document Type: Review

References (31)

1. Anguela XM, Sharma R, Doyon Y, Miller JC, Li H, Haurigot V, Rohde ME, Wong SY, Davidson RJ, Zhou S, Gregory PD, Holmes MC, High KA (2013) Robust ZFN-mediated genome editing in adult hemophilic mice. Blood 122(19):3283–3287
2. Barzel A, Paulk NK, Shi Y, Huang Y, Chu K, Zhang F, Valdmanis PN, Spector LP, Porteus MH, Gaensler KM, Kay MA (2015) Promoterless gene targeting without nucleases ameliorates haemophilia B in mice. Nature 517(7534):360–364
3. Bolukbasi MF, Gupta A, Wolfe SA (2015) Creating and evaluating accurate CRISPR-Cas9 scalpels for genomic surgery. Nat Methods 13(1):41–50
4. Cheng R, Peng J, Yan Y, Cao P, Wang J, Qiu C, Tang L, Liu D, Tang L, Jin J, Huang X, He F, Zhang P (2014) Efficient gene editing in adult mouse livers via adenoviral delivery of CRISPR/Cas9. FEBS Lett 588(21):3954–3958
5. Chuah MK, Nair N, VandenDriessche T (2012) Recent progress in gene therapy for hemophilia. Hum Gene Ther 23(6):557–565
6. Chuah MK, Evens H, VandenDriessche T (2013) Gene therapy for hemophilia. J Thromb Haemost 11(Suppl 1):99–110
7. Cox DB, Platt RJ, Zhang F (2015) Therapeutic genome editing: prospects and challenges. Nat Med 21(2):121–131
8. Graw J, Brackmann HH, Oldenburg J, Schneppenheim R, Spannagl M, Schwaab R (2005) Haemophilia A: from mutation analysis to new therapies. Nat Rev Genet 6(6):488–501
9. Guan Y, Ma Y, Li Q, Sun Z, Ma L, Wu L, Wang L, Zeng L, Shao Y, Chen Y, Ma N, Lu W, Hu K, Han H, Yu Y, Huang Y, Liu M, Li D (2016) CRISPR/Cas9-mediated somatic correction of a novel coagulator factor IX gene mutation ameliorates hemophilia in mouse. EMBO Mol Med 8(5):477–488
10. Hendel A, Bak RO, Clark JT, Kennedy AB, Ryan DE, Roy S, Steinfeld I, Lunstad BD, Kaiser RJ, Wilkens AB, Bacchetta R, Tsalenko A, Dellinger D, Bruhn L, Porteus MH (2015) Chemically modified guide RNAs enhance CRISPR-Cas genome editing in human primary cells. Nat Biotechnol 33(9):985–989
11. High KA (2011) Gene therapy for haemophilia: a long and winding road. J Thromb Haemost 9(Suppl 1):2–11
12. Kim H, Kim JS (2014) A guide to genome engineering with programmable nucleases. Nat Rev Genet 15(5):321–334
13. Kim S, Kim D, Cho SW, Kim J, Kim JS (2014) Highly efficient RNA-guided genome editing in human cells via delivery of purified Cas9 ribonucleoproteins. Genome Res 24(6):1012–1019
14. Kimbrel EA, Lanza R (2015) Current status of pluripotent stem cells: moving the first therapies to the clinic. Nat Rev Drug Discov 14(10):681–692
15. Kleinstiver BP, Pattanayak V, Prew MS, Tsai SQ, Nguyen NT, Zheng Z, Joung JK (2016) High-fidelity CRISPR-Cas9 nucleases with no detectable genome-wide off-target effects. Nature 529(7587):490–495
16. Komor AC, Kim YB, Packer MS, Zuris JA, Liu DR (2016) Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage. Nature 533(7603):420–424
17. Lee HJ, Kweon J, Kim E, Kim S, Kim JS (2012) Targeted chromosomal duplications and inversions in the human genome using zinc finger nucleases. Genome Res 22(3):539–548
18. Li H, Haurigot V, Doyon Y, Li T, Wong SY, Bhagwat AS, Malani N, Anguela XM, Sharma R, Ivanciu L, Murphy SL, Finn JD, Khazi FR, Zhou S, Paschon DE, Rebar EJ, Bushman FD, Gregory PD, Holmes MC, High KA (2011) In vivo genome editing restores haemostasis in a mouse model of haemophilia. Nature 475(7355):217–221
19. Mannucci PM, Tuddenham EG (2001) The hemophilias-from royal genes to gene therapy. N Engl J Med 344(23):1773–1779
20. Nathwani AC, Reiss UM, Tuddenham EG, Rosales C, Chowdary P, McIntosh J, Della Peruta M, Lheriteau E, Patel N, Raj D, Riddell A, Pie J, Rangarajan S, Bevan D, Recht M, Shen YM, Halka KG, Basner-Tschakarjan E, Mingozzi F, High KA, Allay J, Kay MA, Ng CY, Zhou J, Cancio M, Morton CL, Gray JT, Srivastava D, Nienhuis AW, Davidoff AM (2014) Long-term safety and efficacy of factor IX gene therapy in hemophilia B. N Engl J Med 371(21):1994–2004
21. Pang J, Wu Y, Li Z, Hu Z, Wang X, Hu X, Wang X, Liu X, Zhou M, Liu B, Wang Y, Feng M, Liang D (2016) Targeting of the human F8 at the multicopy rDNA locus in hemophilia A patient-derived iPSCs using TALENickases. Biochem Biophys Res Commun 472(1):144–149
22. Park CY, Kim J, Kweon J, Son JS, Lee JS, Yoo JE, Cho SR, Kim JH, Kim JS, Kim DW (2014) Targeted inversion and reversion of the blood coagulation factor 8 gene in human iPS cells using TALENs. Proc Natl Acad Sci USA 111(25):9253–9258
23. Park CY, Kim DH, Son JS, Sung JJ, Lee J, Bae S, Kim JH, Kim DW, Kim JS (2015) Functional correction of large factor VIII gene chromosomal inversions in hemophilia A patient-derived iPSCs using CRISPR-Cas9. Cell Stem Cell 17(2):213–220
24. Ran FA, Cong L, Yan WX, Scott DA, Gootenberg JS, Kriz AJ, Zetsche B, Shalem O, Wu X, Makarova KS, Koonin EV, Sharp PA, Zhang F (2015) In vivo genome editing using Staphylococcus aureus Cas9. Nature 520(7546):186–191
25. Sánchez-Rivera FJ, Papagiannakopoulos T, Romero R, Tammela T, Bauer MR, Bhutkar A, Joshi NS, Subbaraj L, Bronson RT, Xue W, Jacks T (2014) Rapid modelling of cooperating genetic events in cancer through somatic genome editing. Nature 516(7531):428–431
26. Sharma R, Anguela XM, Doyon Y, Wechsler T, DeKelver RC, Sproul S, Paschon DE, Miller JC, Davidson RJ, Shivak D, Zhou S, Rieders J, Gregory PD, Holmes MC, Rebar EJ, High KA (2015) In vivo genome editing of the albumin locus as a platform for protein replacement therapy. Blood 126(15):1777–1784
27. Sivalingam J, Kenanov D, Han H, Nirmal AJ, Ng WH, Lee SS, Masilamani J, Phan TT, Maurer-Stroh S, Kon OL (2016) Multidimensional genome-wide analyses show accurate FVIII integration by ZFN in primary human cells. Mol Ther 24(3):607–619
28. Slaymaker IM, Gao L, Zetsche B, Scott DA, Yan WX, Zhang F (2016) Rationally engineered Cas9 nucleases with improved specificity. Science 351(6268):84–88
29. Trounson A, DeWitt ND (2016) Pluripotent stem cells progressing to the clinic. Nat Rev Mol Cell Biol 17(3):194–200
30. Wu Y, Hu Z, Li Z, Pang J, Feng M, Hu X, Wang X, Lin-Peng S, Liu B, Chen F, Wu L, Liang D (2016) In situ genetic correction of F8 intron 22 inversion in hemophilia A patient-specific iPSCs. Sci Rep 6:18865
31. Zuris JA, Thompson DB, Shu Y, Guilinger JP, Bessen JL, Hu JH, Maeder ML, Joung JK, Chen ZY, Liu DR (2015) Cationic lipid-mediated delivery of proteins enables efficient protein-based genome editing in vitro and in vivo. Nat Biotechnol 33(1):73–80