2017年12月8日 · Here we present our IND-enabling preclinical development for CRISPR-Cas9 and rAAV6-mediated HBB genome editing of the E6V mutation in SCD-derived HSPCs as well as in plerixafor mobilized HSPCs from multiple healthy

2024年4月22日 · The c.20A>T (p.Glu7Val) variant in HBB (also known as p.Glu6Val) is the most prevalent genotype associated with sickle cell disease (PMID: 25203083). This variant is an established disease-associated mutation and has been reported as pathogenic by multiple clinical diagnostic laboratories in ClinVar (variant ID: 15333).

2021年1月29日 · Using HiFi Cas9, sgRNA, and AAV6 reagents previously developed and validated for human HBB 3,11,25, we next evaluated HBB gene correction of the A-to-T mutation in exon 1 of HbS (causing the...

致病性 SCD 等位基因 (HBBS) 向天然存在的非致病性等位基因 (HBBG) 的转化率高达80%。 研究人员还指出，编辑器引起血红蛋白异常变化的例子很少。 ABE被称为ABE8e-NRCH，是在 David R. Liu博士的Broad Institute实验室开发的。 “我们能够在不需要双链DNA断裂或在基因组中插入新的DNA片段的情况下纠正致病变异。 这是一项重要的团队工作，我们希望，碱基编辑将为镰状细胞病的治疗策略提供有希望的基础。 ”研究人员说。 Liu引用的研究小组成员包括来自St. Jude儿 …

2016年10月18日 · The p.Glu7Val variant (also known as Glu6Val and hemoglobin S variant) in HBB has been identified in 1121/24964 (4.5% 4 homozygotes) of African chromosomes by the Genome Aggregation Database. In the homozygous state the p.Glu7Val variant in HBB causes sickle cell anemia.

2024年11月5日 · We believe the mechanism of the RNA Gene Writer to precisely write DNA at the single nucleotide level makes it an ideal modality to correct the sickle cell disease (SCD) causing mutation, HBB E6V, in hematopoietic stem cells (HSCs).

2023年5月19日 · Therapeutic genome editing of haematopoietic stem cells (HSCs) may permanently remedy sickle cell disease (SCD) and other severe blood disorders. SCD is an autosomal recessive genetic disorder...

2023年4月19日 · 镰状细胞病(SCD)是一种常染色体隐性遗传疾病，由血红蛋白亚基β (HBB)基因的A·T-to-T·A突变引起，导致致病性镰状细胞等位基因(HBBS)编码Glu 6→Val (E6V)取代。

HB-S variant responsible for causing Sickle Cell Disease when homozygous (residue count follows p.HBB). This is often also referred to as E6V, referring to the position of the amino acid in the final protein product (the first amino acid is removed after translation). Heterozygotes have Sickle Cell Trait.

2020年12月18日 · 镰状血红蛋白(hbs)是正常成人血红蛋白(hba)的一种变体，它是由红蛋白基因(hbb)含有单一的e6v错义突变而产生的。 在脱氧过程中，HbS聚合，导致红细胞畸形，引发多种临床症状包括疼痛性脑血管破裂危象、慢性溶血性贫血、进行性和不可逆器官损害和早期死亡。