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.
PMID:33283989
CRISPR/Cas9 gene editing for curing sickle cell disease.
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.
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.
PMID:35316613
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.
PMID:30715679
Alpha-thalassaemia.
Harteveld CL, Higgs DR.
Orphanet J Rare Dis. 2010 May 28;5:13. doi: 10.1186/1750-1172-5-13.
PMID:20507641
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.
PMID:36808723
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.
PMID:30692697
Genome editing approaches to β-hemoglobinopathies.