Kevin Eggan2014-02-27 12:02 PM

用多能干细胞为人类疾病建模:从基因关联到功能。Modeling human disease with pluripotent stem cells: from genome association to function.



论文摘要

将机械式见解运用到人类疾病研究中可以推动那些在广泛患者人群中颇起效果的治疗方法的发展。基因编辑技术的融合,诱导多能干细胞和全基因组关联以及DNA测序研究使得从分子基础层面阐释人类疾病的新方法的实现成为可能。我们讨论了将这些技术结合且提供能询问疾病相关候选基因变量对疾病相关表型所起作用的工作流程所面临的机遇和挑战.最后,我们讨论了人类多能干细胞将疾病相关基因变量植入分子途径的潜在效用。

Abstract
Mechanistic insights into human disease may enable the development of treatments that are effective in broad patient populations. The confluence of gene-editing technologies, induced pluripotent stem cells, and genome-wide association as well as DNA sequencing studies is enabling new approaches for illuminating the molecular basis of human disease. We discuss the opportunities and challenges of combining these technologies and provide a workflow for interrogating the contribution of disease-associated candidate genetic variants to disease-relevant phenotypes. Finally, we discuss the potential utility of human pluripotent stem cells for placing disease-associated genetic variants into molecular pathways.

KEYWORDS

SHARE & LIKE

COMMENTS

ABOUT THE AUTHOR

Kevin Eggan

0 Following 0 Fans 0 Projects 13 Articles

SIMILAR ARTICLES

Abstract Using transgenic mice harboring a targeted LacZ insertion, we studied the expression pattern of the C9ORF72 mouse ortholog (3110043O21Rik). Un

Read More

AbstractDevelopment of effective pluripotent stem cell-based therapies will require safety and efficacy testing in a clinically relevant preclinical mo

Read More

AbstractHuman neurodegenerative disorders are among the most difficult to study. In particular, the inability to readily obtain the faulty cell types m

Read More

论文摘要将机械式见解运用到人类疾病研究中可以推动那些在广泛患者人群中颇起效果的治疗方法的发展。基因编辑技术的融合,诱导多能干细胞和全基因组关联以及DNA测序研究使得从分子基础层面阐释人类疾病的新方法的实现成为可能。我们讨论了将这些技术

Read More

AbstractEarly mammalian embryogenesis is controlled by mechanisms governing the balance between pluripotency and differentiation. The expression of ear

Read More

论文摘要虽然不同人类诱导多能干细胞(hiPSC)线能展示出显著表观遗传变异,但我们仍不清楚该变动是否会影响它对疾病模型的效用。在这里,我们表明虽然低传递的女性iPS细胞保存了源自体细胞的失活X染色体,随着培育时间的推移,他们经

Read More

论文摘要哺乳动物神经系统包括了许多不同神经元亚型,每个亚型对退行性疾病都具有特定表型和不同灵敏度。虽然用于转译研究的具体神经元类型可通过隔离啮齿类动物胚胎或改造干细胞而获得, 但转录因子介导的重编程可能会为子代提供更直接的路径

Read More

论文摘要定义的转录因子能诱导成年哺乳动物细胞的表观遗传重编程变成诱导性多能干细胞。尽管DNA因子在某些重编程方法中是完整的,但我们仍然不清楚基因组是否能在单核苷酸水平保持不变。我们在此表明22条人体诱导多能干细胞(hiPS)细

Read More

AbstractFertilized mouse zygotes can reprogram somatic cells to a pluripotent state. Human zygotes might therefore be useful for producing patient-deri

Read More