Evidence map›Paper›PMID 40397074›Full record

ReviewCurrent rheumatology reports2025

Biorepositories For Global Rare Disease Research: A Narrative Review.

Maria Rosa Pellico, Jessica Day, Meera Shah, Belina Y Yi, Lesley Ann Saketkoo, Christian Lood, Latika Gupta

Abstract readReview
In one paragraph

Review in Current rheumatology reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Review
  2. Review
  3. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors.

Maria Rosa PellicoDepartment of Clinical Sciences and Community Health, University of Milan, Milan, Italy.ORCID http://orcid.org/0009-0004-1921-7370
Jessica DayDepartment of Rheumatology, Royal Melbourne Hospital, Parkville, Australia.ORCID http://orcid.org/0000-0001-8528-4361
Meera ShahDepartment of Rheumatology, Indraprastha Apollo Hospital, New Delhi, India.ORCID http://orcid.org/0009-0005-3308-7231
Belina Y YiDivision of Pediatric Allergy, Immunology, and Rheumatology, Johns Hopkins University, Baltimore, MD, USA.ORCID http://orcid.org/0000-0003-2385-2591
Lesley Ann SaketkooNew Orleans Scleroderma and Sarcoidosis Patient Care and Research Center, New Orleans, LA, USA.ORCID http://orcid.org/0000-0002-1878-8591
Christian LoodDivision of Rheumatology, University of Washington, Seattle, WA, USA.ORCID http://orcid.org/0000-0002-6171-1952
Latika GuptaDepartment of Rheumatology, Royal Wolverhampton Hospitals NHS Trust, Wolverhampton, UK. drlatikagupta@gmail.com.ORCID http://orcid.org/0000-0003-2753-2990

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purpose of this reviewRare 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

findingsAdvances 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.

Indexed as

Biological Specimen BanksBiomedical ResearchRare DiseasesHumansPrecision MedicineBiobankBiospecimenConnective tissue diseaseMyopathiesMyositisRare disease

Identifiers

PMID40397074
PMCPMC12095354

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.