Modelling TRPV4 skeletal disorders using human iPSCs

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。我们将利用病人的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“盘中病”模型。这些模型将使我们能够回答特定突变如何导致疾病的问题，并确定潜在的治疗方法。

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