Ferlini A, Scotton C, Novelli G
Section of Microbiology and Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
Public Health Genomics. 2013;16(6):313-21. doi: 10.1159/000355938. Epub 2014 Feb 3.
Nowadays 7,000 rare diseases (RDs) have been identified with a prevalence less than 5/10,000. Despite of the enormous effort the European Union (EU) has already invested in this field, still 4,000 RDs remain orphan of genetic diagnosis and causative gene identification. The genetic definition of RDs represents a prerequisite for being diagnosed, for having a robust prevention, for entering in a specific standard of care, and ultimately, for being included in clinical trials, often via personalized medicine. It is well established that biomarkers can offer a way to speed up research by understanding the pathophysiological mechanisms of diseases. In particular, biomarkers will offer an invaluable tool for monitoring disease progression, prognosis and response to drug treatment.
In this review, we summarize the different types of biomarkers and their importance as well as their translational applications in RDs. We have reviewed the current knowledge on biomarkers state-of-the-art via literature data, specific websites and EU sources regarding past, pending and current projects.
Here we provide a comprehensive scenario of biomarkers research, its applications in clinical practice, with special emphasis on translational research applicable to diagnostic and clinical trials. The experience of the EU project BIO-NMD is also mentioned.
Biomarkers represent key features in both diagnostics and research on rare diseases and will encounter wide exploitation in translational and personalized medicine.
如今已确认有7000种罕见病，其患病率低于万分之五。尽管欧盟已在该领域投入了巨大努力，但仍有4000种罕见病尚未进行基因诊断和致病基因鉴定。罕见病的基因定义是进行诊断、实施有效预防、进入特定护理标准并最终纳入临床试验（通常通过个性化医疗）的先决条件。众所周知，生物标志物可以通过了解疾病的病理生理机制为加速研究提供一种途径。特别是，生物标志物将为监测疾病进展、预后和药物治疗反应提供宝贵工具。
在本综述中，我们总结了生物标志物的不同类型及其重要性，以及它们在罕见病中的转化应用。我们通过文献数据、特定网站和欧盟来源，回顾了关于生物标志物最新技术的现有知识，涉及过去、正在进行和当前的项目。
在此，我们提供了生物标志物研究的全面情况，及其在临床实践中的应用，特别强调适用于诊断和临床试验的转化研究。还提到了欧盟项目BIO-NMD的经验。
生物标志物是罕见病诊断和研究的关键特征，将在转化医学和个性化医疗中得到广泛应用。
