Modelling TRPV4 skeletal disorders using human iPSCs

使用人类 iPSC 模拟 TRPV4 骨骼疾病

• 批准号: nhmrc : 1144807
• 负责人: A/Pr Shireen Lamande
• 金额: $ 79.19万
• 依托单位: Murdoch Childrens Research Institute
• 依托单位国家: 澳大利亚
• 项目类别: Project Grants
• 财政年份: 2018
• 资助国家: 澳大利亚
• 起止时间: 2018-01-01 至 2021-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/modelling-trpv4-skeletal-human-ipscs/1320283
• 关键词: Modelling; TRPV4; skeletal; disorders; using

Inherited skeletal disorders are a significant disease burden. Many gene mutations have been defined but we only have limited understanding about how they cause the disease. We will use patient skin cells and new in vitro re-programing technology to induce them to form cartilage cells to produce “disease in a dish” models of human skeletal disorders. These models will allow us to answer questions about how specific mutations cause disease and identify potential therapies

遗传性骨骼疾病是一个重大的疾病负担。许多基因突变已经被定义，但我们对它们如何导致疾病的了解有限。我们将利用患者皮肤细胞和新的体外重编程技术诱导它们形成软骨细胞，以产生人类骨骼疾病的“培养皿中的疾病”模型。这些模型将使我们能够回答有关特定突变如何导致疾病的问题并确定潜在的治疗方法