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将蛋白质组学纳入罕见疾病的常规诊断实践的理由

Elizabeth M McCormick¹

¹Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, USA. mccormicke@chop.edu.

Genome medicine

|May 26, 2025

概括

许多罕见病患者缺乏遗传诊断,阻碍了获得个性化治疗的机会. 将蛋白质组学整合到诊断中可以加速诊断,并为这些人扩大治疗选择.

科学领域:

基因组学和蛋白质组学
罕见疾病的诊断罕见疾病的诊断
个性化医疗是个性化的医疗.

背景情况:

未诊断的罕见疾病对个性化治疗构成重大障碍.
当前的诊断工作流程往往无法识别潜在的遗传原因.
蛋白质组学,即对蛋白质的研究,在临床诊断中仍未得到充分利用.

关键词:

诊断的实践诊断的实践.精准医学是一门精准的医学.蛋白质组学是指蛋白质组学.罕见疾病是一种罕见的疾病.没有确诊的疾病.

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