Inherited musculoskeletal disorders: molecular genetics, cellular mechanisms and therapies

遗传性肌肉骨骼疾病：分子遗传学、细胞机制和治疗

• 批准号: nhmrc : 1043837
• 负责人: A/Pr Shireen Lamande
• 金额: $ 41.44万
• 依托单位: Murdoch Childrens Research Institute
• 依托单位国家: 澳大利亚
• 项目类别: Research Fellowships
• 财政年份: 2013
• 资助国家: 澳大利亚
• 起止时间: 2013-01-01 至 2017-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/inherited-musculoskeletal-disorders-mechanisms-therapies/111608
• 关键词: Inherited; musculoskeletal; disorders; molecular; genetics

My goal is to understand the causes of inherited muscular dystrophies and disorders affecting development of the skeleton. I study muscular dystrophies caused by collagen VI mutations, provide diagnosis for patients and families, and identify how and why the changes cause muscle disease. I am searching for genes that modify muscular dystrophy severity and exploring potential therapies. I discovered a new gene for inherited arthritis and am searching for genes for other skeletal disorders.

我的目标是了解遗传性肌肉萎缩症和影响骨骼发育的疾病的原因。我研究由VI型胶原突变引起的肌营养不良症，为患者和家庭提供诊断，并确定这些变化如何以及为什么会导致肌肉疾病。我正在寻找基因，修改肌肉萎缩症的严重程度和探索潜在的治疗方法。我发现了遗传性关节炎的新基因，并正在寻找其他骨骼疾病的基因。