CRISPR-Cas9 Gene Editing for Sickle Cell Disease and beta-Thalassemia.
Frangoul H, Altshuler D, Cappellini MD, Chen YS, Domm J, Eustace BK, Foell J, de la Fuente J, Grupp S, Handgretinger R, Ho TW, Kattamis A, Kernytsky A, Lekstrom-Himes J, Li AM, Locatelli F, Mapara MY, de Montalembert M, Rondelli D, Sharma A, Sheth S, Soni S, Steinberg MH, Wall D, Yen A, Corbacioglu S.
N Engl J Med. 2021 Jan 21;384(3):252-260. doi: 10.1056/NEJMoa2031054. Epub 2020 Dec 5.
CRISPR/Cas9 gene editing for curing sickle cell disease.
Park SH, Bao G.
Transfus Apher Sci. 2021 Feb;60(1):103060. doi: 10.1016/j.transci.2021.103060. Epub 2021 Jan 10.
The Next Frontier in Noninvasive Prenatal Diagnostics: Cell-Free Fetal DNA Analysis for Monogenic Disease Assessment.
Zhong LPW, Chiu RWK.
Annu Rev Genomics Hum Genet. 2022 Aug 31;23:413-425. doi: 10.1146/annurev-genom-110821-113411. Epub 2022 Mar 22.
Monogenic disease analysis establishes that fetal insulin accounts for half of human fetal growth.
Hughes AE, De Franco E, Freathy RM; Fetal Insulin and Growth Consortium; Flanagan SE, Hattersley AT.
J Clin Invest. 2023 Mar 15;133(6):e165402. doi: 10.1172/JCI165402.
In vivo HSC prime editing rescues sickle cell disease in a mouse model.
Li C, Georgakopoulou A, Newby GA, Chen PJ, Everette KA, Paschoudi K, Vlachaki E, Gil S, Anderson AK, Koob T, Huang L, Wang H, Kiem HP, Liu DR, Yannaki E, Lieber A.
Blood. 2023 Apr 27;141(17):2085-2099. doi: 10.1182/blood.2022018252.
Alpha-thalassaemia.
Harteveld CL, Higgs DR.
Orphanet J Rare Dis. 2010 May 28;5:13. doi: 10.1186/1750-1172-5-13.
Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.
Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM.
Nat Med. 2019 Mar;25(3):439-447. doi: 10.1038/s41591-018-0334-x. Epub 2019 Jan 28.
CRISPR/Cas9 for Sickle Cell Disease: Applications, Future Possibilities, and Challenges.
Demirci S, Leonard A, Haro-Mora JJ, Uchida N, Tisdale JF.
Adv Exp Med Biol. 2019;1144:37-52. doi: 10.1007/5584_2018_331.
A systematic review of monogenic etiologies of nonimmune hydrops fetalis.
Quinn AM, Valcarcel BN, Makhamreh MM, Al-Kouatly HB, Berger SI.
Genet Med. 2021 Jan;23(1):3-12. doi: 10.1038/s41436-020-00967-0. Epub 2020 Oct 21.
Revolutionising healing: Gene Editing's breakthrough against sickle cell disease.
Dimitrievska M, Bansal D, Vitale M, Strouboulis J, Miccio A, Nicolaides KH, El Hoss S, Shangaris P, Jacków-Malinowska J.
Blood Rev. 2024 May;65:101185. doi: 10.1016/j.blre.2024.101185. Epub 2024 Mar 7.
