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Updated: May 11, 2026
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Establishment of a Clinic-based Biorepository
Published on: May 29, 2017
Biorepositories For Global Rare Disease Research: A Narrative Review
Maria Rosa Pellico1,2, Jessica Day3,4,5, Meera Shah6
1Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy.
Current Rheumatology Reports
|May 21, 2025
Summary
Biobanks are crucial for rare disease research, enabling collaborative studies with biospecimens. Strengthening global collaborations and addressing challenges will accelerate discoveries in rare rheumatic diseases and precision medicine.
Area of Science:
- Biomedical Research
- Rare Diseases
- Biobanking
Background:
- Rare diseases collectively affect many individuals, necessitating collaborative research.
- Biospecimens are vital for understanding disease characteristics and pathophysiology.
- Biobanks are essential infrastructure for collecting, storing, and distributing biospecimens.
Purpose of the Study:
- To review existing biobanks for rare rheumatic diseases.
- To examine best practices for high-quality biobank establishment and maintenance.
- To identify limitations and propose future directions for rare disease biobanking.
Main Methods:
- Literature review of biobanking resources and guidelines.
- Analysis of current challenges and advancements in biobanking.
- Exploration of collaborative research models.
Main Results:
- Biobanking advances biomarker discovery and precision medicine.
- Key challenges include ethics, interoperability, and biospecimen exchange.
- National and international collaborations are crucial for progress.
Conclusions:
- Biobanking has significantly advanced rare disease research.
- Enhanced collaboration and standardized practices are needed.
- Future efforts should focus on overcoming existing biobanking challenges to accelerate therapeutic development.
