Investigating Friedreich Ataxia cardiomyopathy and ophthalmopathy using induced pluripotent stem cells

使用诱导多能干细胞研究弗里德赖希共济失调心肌病和眼病

• 批准号: nhmrc : 1055499
• 负责人: Dr Duncan Crombie
• 金额: $ 9.08万
• 依托单位: Centre for Eye Research Australia Ltd
• 依托单位国家: 澳大利亚
• 项目类别: Postgraduate Scholarships
• 财政年份: 2013
• 资助国家: 澳大利亚
• 起止时间: 2013-01-01 至 2015-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/investigating-friedreich-ataxia-stem-cells/112469
• 关键词: Investigating; Friedreich; Ataxia; cardiomyopathy; ophthalmopathy

There is no effective treatment for Friedreich ataxia (FRDA). Patients, usually diagnosed as children, will end up in wheelchairs; many have difficulty with movement, speech, develop eye problems and diabetes. Most die at a young age from heart failure. In this project we will study stem cells from patients with FRDA. In the laboratory, these stem cells will be turned into heart and eye cells to study why patients with FRDA develop symptoms and to help develop new drugs to provide effective treatment.

目前还没有有效的治疗Friedreich共济失调(FRDA)的方法。患者通常被诊断为儿童，最终会坐在轮椅上；许多人在运动、言语方面存在困难，出现眼睛问题和糖尿病。大多数人在年轻时死于心力衰竭。在这个项目中，我们将研究来自FRDA患者的干细胞。在实验室里，这些干细胞将被转化为心脏和眼睛细胞，以研究FRDA患者出现症状的原因，并帮助开发提供有效治疗的新药。