Functional assessment of bioenergetic defects in hereditary spastic paraplegia

遗传性痉挛性截瘫生物能缺陷的功能评估

• 批准号: nhmrc : 1017937
• 负责人: Dr Kishore Kumar
• 金额: $ 7.56万
• 依托单位: The University of Sydney
• 依托单位国家: 澳大利亚
• 项目类别: NHMRC Postgraduate Scholarships
• 财政年份: 2011
• 资助国家: 澳大利亚
• 起止时间: 2011-01-01 至 2014-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/functional-assessment-bioenergetic-spastic-paraplegia/109936
• 关键词: Functional; assessment; bioenergetic; defects; hereditary

Hereditary spastic paraplegia (HSP) is a degenerative, hereditary disorder which affects the legs. Currently there are no treatments that target the disease process. We seek to identify the genes responsible for this condition in a group of Australian patients. Cell samples obtained from these patients will be tested for energy defects. We hope to improve our understanding of the underlying disease processes in order to find new ways to prevent, treat and cure this condition.

遗传性痉挛性截瘫（HSP）是一种影响腿部的退行性遗传性疾病。目前还没有针对疾病过程的治疗方法。我们试图在一组澳大利亚患者中确定导致这种情况的基因。从这些病人身上获得的细胞样本将被用于检测能量缺陷。我们希望提高我们对潜在疾病过程的理解，以便找到预防、治疗和治愈这种疾病的新方法。