Disorders of gonadal development: Molecular approaches to improved patient care

性腺发育障碍：改善患者护理的分子方法

• 批准号: nhmrc : 1059006
• 负责人: Prof Peter Koopman
• 金额: $ 57.57万
• 依托单位: The University of Queensland
• 依托单位国家: 澳大利亚
• 项目类别: Research Fellowships
• 财政年份: 2014
• 资助国家: 澳大利亚
• 起止时间: 2014-01-01 至 2018-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/disorders-gonadal-development-patient-care/454720
• 关键词: Disorders; gonadal; development; Molecular; approaches

We will use new genomic technologies to identify the genetic causes of disorders of sex development (DSD), a common and often distressing class of birth defect. Knowing the molecular lesion will take the guesswork out of diagnosis and treatment of DSD children. We will also exploit a new discovery to develop new means of rapid, cost-effective, non-invasive diagnosis and therapy for testicular cancer, the commonest form of cancer in men under 30.

我们将使用新的基因组技术来确定性发育障碍（DSD）的遗传原因，这是一种常见且经常令人痛苦的出生缺陷。了解分子病变将使诊断和治疗DSD儿童的猜测工作。我们还将利用一项新发现，为30岁以下男性最常见的癌症睾丸癌开发快速、经济、非侵入性诊断和治疗的新方法。