Skeletal Disease in a Dish: Using novel in vitro disease models produced from patient induced pluripotent stem cells to reveal pathogenic mechanisms and explore treatments for genetic skeletal disorders

培养皿中的骨骼疾病：利用患者诱导多能干细胞产生的新型体外疾病模型来揭示致病机制并探索遗传性骨骼疾病的治疗方法

• 批准号: nhmrc : 1146952
• 负责人: A/Pr Shireen Lamande
• 金额: $ 53.91万
• 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 2020-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/skeletal-disease-dish-skeletal-disorders/1320769
• 关键词: Skeletal; Disease; Dish; Using; novel

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 a new in vitro cell reprogramming technology to induce them to form cartilage and bone cells to produce mutation-specific “disease in a dish” models. These models will allow us to answer questions about how specific mutations cause disease and test novel drug therapies

遗传性骨骼疾病是一种重大的疾病负担。许多基因突变已经被定义，但我们对它们是如何导致疾病的了解有限。我们将使用患者皮肤细胞和一种新的体外细胞重编程技术来诱导它们形成软骨和骨细胞，以产生突变特异性的“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，并测试新的药物疗法