Pellico Maria Rosa, Day Jessica, Shah Meera, Yi Belina Y, Saketkoo Lesley Ann, Lood Christian, Gupta Latika
Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy.
Division of Rheumatology, ASST Gaetani Pini-CTO, Milan, Italy.
Curr Rheumatol Rep. 2025 May 21;27(1):24. doi: 10.1007/s11926-025-01189-6.
Rare diseases, although individually infrequent, collectively impact a substantial number of people. Collaborative translational research using biospecimens is essential for advancing our understanding of the diverse characteristics and pathophysiology of rare diseases. Biobanks play a pivotal role in this endeavor by collecting, processing, transporting, and storing biospecimens, thereby serving as invaluable resources for medical research. In this review, we explore currently available biobanks, with a specific focus on those dedicated to rare rheumatic diseases. We also examine accessible best practice guidelines for establishing and maintaining high-quality biobanks, discuss the limitations and propose future directions for enhancing biobanking efforts in rare disease research.
Advances in molecular and genomic technologies have expanded the role of biobanks, enhancing biomarker discovery and precision medicine. However, despite growth in biobanking capabilities, key challenges persist concerning ethics, interoperability, and biospecimen exchange, prompting active responses by various regulatory and governing bodies. Biobanking has transformed rare disease research. Strengthening national and international collaborations is essential for driving progress in this field and accelerating the development of novel therapeutic and precision medicine approaches.
罕见病虽然单种疾病发病率低，但总体上影响着大量人群。利用生物样本进行合作性转化研究对于增进我们对罕见病多样特征和病理生理学的理解至关重要。生物样本库在这一过程中发挥着关键作用，它负责收集、处理、运输和存储生物样本，从而成为医学研究的宝贵资源。在本综述中，我们探讨了目前可用的生物样本库，特别关注那些专门针对罕见风湿性疾病的样本库。我们还研究了建立和维护高质量生物样本库的可行最佳实践指南，讨论了局限性，并为加强罕见病研究中的生物样本库工作提出了未来方向。
分子和基因组技术的进步扩大了生物样本库的作用，促进了生物标志物的发现和精准医学的发展。然而，尽管生物样本库能力有所增长，但在伦理、互操作性和生物样本交换方面仍存在关键挑战，促使各监管机构积极应对。生物样本库已经改变了罕见病研究。加强国家和国际合作对于推动该领域的进展以及加速新型治疗和精准医学方法的开发至关重要。
