ABSTRACT

Rare diseases (RDs) are conditions affecting fewer than 1 in 2,000 individuals in the general population. Despite their low individual prevalence, their collective impact poses significant challenges to healthcare systems worldwide. Several factors, such as limited patient numbers, fragmented data collection, and high genotypic and phenotypic heterogeneity, contribute to diagnostic delays. These challenges also hinder research and the development of effective therapeutics, leading to significant clinical, economic, and societal burdens

Biobanks, organized collections of biological samples and their associated data, are essential in addressing these challenges. In this review, we explored key aspects of biobanking for RDs, including operational, ethical, and legal considerations. The need for standardized frameworks and the importance of international collaboration through biobanking networks have been discussed. Future directions, including the integration of artificial intelligence, the implementation of dynamic consent models, and the adoption of decentralized data-sharing approaches, have also been highlighted. We also summarized the functions of biobanks in rare disease research, including their impact on identifying genetic variants, understanding disease mechanisms, discovering diagnostic markers, and creating personalized therapeutic approaches.

By storing high-quality biospecimens and data collected in adherence with ethical and legal requirements, biobanks have been transforming the landscape of diagnosis and treatment, ultimately improving patient outcomes and fostering innovation in precision medicine for RDs.