Determining the genetic basis of skeletal dysplasias using Next Generation Sequencing

使用下一代测序确定骨骼发育不良的遗传基础

• 批准号: nhmrc : 1056015
• 负责人: Ms Syndia Lazarus
• 金额: $ 7.34万
• 依托单位: The University of Queensland
• 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/determining-genetic-basis-generation-sequencing/112523
• 关键词: Determining; genetic; basis; skeletal; dysplasias

Osteoporosis is a common condition in Australia, yet treatment options are still limited. Study of rare genetic bone conditions known collectively as skeletal dysplasias have already led to the development of two new osteoporosis drug treatments. My project aims to identify the causative gene for several skeletal dysplasias, and to determine how these genes are involved in the development and maintenance of bone. This knowledge may then translate into new osteoporosis therapies.

骨质疏松症在澳大利亚是一种常见疾病，但治疗选择仍然有限。罕见的遗传性骨骼疾病统称为骨骼发育不良的研究已经导致了两种新的骨质疏松症药物治疗的发展。我的项目旨在确定几种骨骼发育不良的致病基因，并确定这些基因如何参与骨骼的发育和维持。这些知识可能会转化为新的骨质疏松症疗法。