A SYSTEMS BIOLOGY APPROACH TO SCREENING, DIAGNOSIS AND PROGNOSIS FOR LYSOSOMAL STORAGE DISORDERS

溶酶体贮积症筛查、诊断和预后的系统生物学方法

• 批准号: nhmrc : 565073
• 负责人: A/Pr Maria Fuller
• 金额: $ 60.06万
• 依托单位: The University of Adelaide
• 依托单位国家: 澳大利亚
• 项目类别: NHMRC Project Grants
• 财政年份: 2009
• 资助国家: 澳大利亚
• 起止时间: 2009-01-01 至 2011-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/systems-biology-approach-storage-disorders/82361
• 关键词: SYSTEMS; BIOLOGY; APPROACH; SCREENING; DIAGNOSIS

Lysosomal storage disorders (LSD) are inherited and, at present, can only be detected in children after symptoms are obvious. We are developing newborn screening for LSD to detect affected babies before the onset of irreversible symptoms. As most LSD babies appear normal at birth it is important to be able to predict disease severity or rate of disease progression; this will help doctors know when to give therapy, which therapy is best and provide families with appropriate genetic counseling.

溶酶体储存障碍(LSD)是遗传性的，目前只有在症状明显后才能在儿童中发现。我们正在开发LSD的新生儿筛查，以便在出现不可逆转的症状之前发现受影响的婴儿。由于大多数LSD婴儿在出生时看起来都是正常的，因此能够预测疾病的严重程度或疾病进展速度是很重要的；这将有助于医生知道何时进行治疗，哪种治疗方法最好，并为家庭提供适当的遗传咨询。