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首页> 外文期刊>Journal of Biorepository Science for Applied Medicine >Current trends in biobanking for rare diseases: a review
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Current trends in biobanking for rare diseases: a review

机译：罕见病生物库存的当前趋势：综述

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Abstract: Rare diseases (RD) refer to a collection of approximately 5,000–8,000 individual diseases that have a low prevalence and are often genetic in origin. While RD can manifest throughout life, they frequently affect children and newborns. Common characteristics include being severe, disabling, life-threatening, degenerative and affecting different organ systems. The burden of RD is often exacerbated by a lack of specific treatments. Whilst there is etiological heterogeneity, there is overlap in cellular and molecular pathways. Amongst specialists, there is legitimate hope that based on genetic knowledge and pathway definition, a new medical classification system, currently called “precision medicine”, will be developed, which may change our view on how to apply shared therapeutic targets. Thus, collection of clinical and genetic data and biospecimens (in biobanks) will play an increasing role in diagnoses and development of therapies for RD. Biobanks are maintained collaboratively by researchers or their institutions, and involve a delicate balance between health policy objectives, academic research, public good outcomes, and community trust. Due to the nature of RD, international cooperation is critical for sharing limited numbers of RD samples and achieving a critical mass. Here we review the current and future direction of RD biobanks and discuss research and development stemming from the use of biospecimens to improve management of RD.
机译：摘要：稀有疾病（RD）是指大约5,000-8,000种个体疾病的集合，这些疾病的患病率较低，并且通常具有遗传起源。尽管RD可以一生表现出来，但它们经常影响儿童和新生儿。共同特征包括严重，致残，威胁生命，退化并影响不同器官系统。缺乏特定的治疗方法通常会加剧RD的负担。尽管病因学上存在异质性，但细胞和分子途径中存在重叠。在专家中，有合理的希望，即基于遗传知识和途径定义，将开发一种新的医学分类系统，目前称为“精密医学”，这可能会改变我们对如何应用共有治疗靶点的看法。因此，收集临床和遗传数据以及生物样本（在生物库中）将在RD的诊断和开发中起越来越重要的作用。生物银行由研究人员或其机构合作维护，并在卫生政策目标，学术研究，公共利益成果和社区信任之间达成微妙的平衡。由于RD的性质，国际合作对于共享有限数量的RD样本并达到临界数量至关重要。在这里，我们回顾了RD生物库的当前和未来方向，并讨论了利用生物标本改善RD管理的研究和开发。

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