Combining Human Induced Pluripotent Stem Cells and CRISPR-Cas Gene Editing to Model and Develop New Therapies for Nuclear Envelope Diseases

结合人类诱导多能干细胞和 CRISPR-Cas 基因编辑来建模和开发核膜疾病的新疗法

• 批准号: 2241942
• 金额: --
• 依托单位: University College London
• 依托单位国家: 英国
• 项目类别: Studentship
• 财政年份: 2019
• 资助国家: 英国
• 起止时间: 2019 至 无数据
• 项目状态: 未结题
• 来源: https://gtr.ukri.org/projects?ref=studentship-2241942
• 关键词: Combining; Human; Induced; Pluripotent; Stem

Induced pluripotent stem cells (iPSCs), combined with CRISPR genome editing technologies, provide powerful tools for disease modelling to both improve understanding of pathology and develop next-generation therapies. Here, these cutting-edge technologies will be applied to diseases caused by cell nuclear defects. Lamins assemble into the nuclear lamina, providing structural support and regulating gene expression. Mutant lamin A/C cause a plethora of diseases affecting multiple tissues called 'laminopathies'. We have modelled skeletal muscle laminopathies by differentiating LMNA-mutant iPSCs into muscle tissue. Now we will use this proven platform to study pathophysiology and develop treatments for laminopathies affecting nervous and cardiac tissues.

诱导多能干细胞 (iPSC) 与 CRISPR 基因组编辑技术相结合，为疾病建模提供了强大的工具，以提高对病理学的了解并开发下一代疗法。在这里，这些尖端技术将被应用于细胞核缺陷引起的疾病。核纤层蛋白组装成核纤层，提供结构支持并调节基因表达。突变核纤层蛋白 A/C 会导致多种影响多个组织的疾病，称为“核纤层蛋白病”。我们通过将 LMNA 突变 iPSC 分化为肌肉组织来模拟骨骼肌核纤层蛋白病。现在，我们将利用这个经过验证的平台来研究病理生理学并开发影响神经和心脏组织的核纤层蛋白病的治疗方法。