Gülbakan Basri, Özgül Rıza Köksal, Yüzbaşıoğlu Ayşe, Kohl Matthias, Deigner Hans-Peter, Özgüç Meral
Pediatric Metabolism Unit, Institute of Child Health, Hacettepe University, Ankara, Turkey.
Department of Medical Biology & Biobank for Rare Disease, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
EPMA J. 2016 Dec 8;7(1):24. doi: 10.1186/s13167-016-0074-2. eCollection 2016.
There are more than 8000 rare diseases (RDs) that affect >5 % of the world's population. Many of the RDs have no effective treatment and lack of knowledge creates delayed diagnosis making management difficult. The emerging concept of the personalized medicine allows for early screening, diagnosis, and individualized treatment of human diseases. In this context, the discovery of biomarkers in RDs will be of prime importance to enable timely prevention and effective treatment. Since 80 % of RDs are of genetic origin, identification of new genes and causative mutations become valuable biomarkers. Furthermore, dynamic markers such as expressed genes, metabolites, and proteins are also very important to follow prognosis and response the therapy. Recent advances in omics technologies and their use in combination can define pathophysiological pathways that can be drug targets. Biomarker discovery and their use in diagnosis in RDs is a major pillar in RD research.
有超过8000种罕见病影响着全球5%以上的人口。许多罕见病没有有效的治疗方法，而知识的匮乏导致诊断延迟，使得治疗管理变得困难。个性化医疗这一新兴概念能够实现人类疾病的早期筛查、诊断和个体化治疗。在这种背景下，发现罕见病的生物标志物对于实现及时预防和有效治疗至关重要。由于80%的罕见病起源于遗传，鉴定新基因和致病突变成为有价值的生物标志物。此外，诸如表达的基因、代谢物和蛋白质等动态标志物对于跟踪预后和对治疗的反应也非常重要。组学技术的最新进展及其联合应用能够确定可作为药物靶点的病理生理途径。生物标志物的发现及其在罕见病诊断中的应用是罕见病研究的一大支柱。
