Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2025 May 21;27(1):24.
doi: 10.1007/s11926-025-01189-6.

Biorepositories For Global Rare Disease Research: A Narrative Review

Maria Rosa Pellico  1   2 , Jessica Day  3   4   5 , Meera Shah  6 , Belina Y Yi  7 , Lesley Ann Saketkoo  8   9   10 , Christian Lood  11 , Latika Gupta  12   13   14   15
Affiliations
Review

Biorepositories For Global Rare Disease Research: A Narrative Review

Maria Rosa Pellico et al. Curr Rheumatol Rep. .

Abstract

Purpose of this review: 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.

Recent findings: 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.

Keywords: Biobank; Biospecimen; Connective tissue disease; Myopathies; Myositis; Rare disease.

PubMed Disclaimer

Conflict of interest statement

Declarations. Disclosures: LG and CL co-lead the MIHRA biospecimen core. The views and opinions expressed belong to the authors and do not necessarily reflect those of the organizations with which they are affiliated. LAS: Abbvie, Argenx, aTyr Pharmaceuticals, Boehringer Ingelheim, CSL Behring, EMD Serono, Horizon Pharmaceuticals, Kadmon Pharmaceuticals, Kinevant Pharmaceuticals, Mallinckrodt Pharmaceuticals, Pfizer Inc, Priovant Pharmaceuticals, U.S. Department of Defense. Human and Animal Rights and Informed Consent: This article does not contain any studies with human or animal subjects performed by any of the authors. Conflict of Interest: The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
Overview of Liquid and Solid Biospecimen Collection, Processing, and Storage
See this image and copyright information in PMC

References

    1. The Lancet Diabetes Endocrinology null. Spotlight on rare diseases. Lancet Diabetes Endocrinol. 2019;7(2):75. - PubMed
    1. Rheumatology TL. Long-awaited action on rare diseases. The Lancet Rheumatology. 2022;4(4):e229. - PubMed
    1. Graham CE, Molster C, Baynam GS, Bushby K, Hansson M, Kole A, et al. Current trends in biobanking for rare diseases: a review. Journal of Biorepository Science for Applied Medicine. 2014;21(2):49–61.
    1. Gasparyan AY, Ayvazyan L, Blackmore H, Kitas GD. Writing a narrative biomedical review: considerations for authors, peer reviewers, and editors. Rheumatol Int. 2011;31(11):1409–17. - PubMed
    1. Coppola L, Cianflone A, Grimaldi AM, Incoronato M, Bevilacqua P, Messina F, et al. Biobanking in health care: evolution and future directions. J Transl Med. 2019;22(17):172. - PMC - PubMed