ArticleFrontiers in public health2023
Challenges in mapping European rare disease databases, relevant for ML-based screening technologies in terms of organizational, FAIR and legal principles: scoping review.
Article in Frontiers in public health, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed.
- Artificial Intelligence in Neuromuscular Diseases: Opportunities for a Data-Scarce Field.Neurology and therapy · 2026Review
- Cost-Effectiveness of Newborn Screening for Spinal Muscular Atrophy in Spain, Greece, and Portugal.Neurology and therapy · 2026Article
- A text mining and ontology-based approach using phenotypes to obtain relevant literature for rare diseases.iScience · 2026Article
- Two Decades of Progress and Remaining Challenges: Comparative Analysis of Rare Disease Policy Implementation in Bulgaria, Romania, and Greece.Therapeutic innovation & regulatory science · 2026Article
- Review
- Advocating the potential of artificial intelligence for syndrome discovery in syndromic surveillance systems: A scoping review.iScience · 2026Review
- Real-World Data Included in Post-authorisation Measures: A Case Study of Approved Advanced Therapy Medicinal Products in the European Union between 2013 and 2024.BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy · 2025Article
- Serbian Health Information System (HIS) improvements 2021-2024: comparison study using stages of continuous improvement (SOCI) methodology.Health research policy and systems · 2025Article
- An ontology-based rare disease common data model harmonising international registries, FHIR, and Phenopackets.Scientific data · 2025Article
- The impact of rare diseases on the quality of life in paediatric patients: current status.Frontiers in public health · 2025Review
- Artificial intelligence empowering rare diseases: a bibliometric perspective over the last two decades.Orphanet journal of rare diseases · 2024Article
- How to customize common data models for rare diseases: an OMOP-based implementation and lessons learned.Orphanet journal of rare diseases · 2024Article
- Review
- Landscape analysis of available European data sources amenable for machine learning and recommendations on usability for rare diseases screening.Orphanet journal of rare diseases · 2024Article
- Are the European reference networks for rare diseases ready to embrace machine learning? A mixed-methods study.Orphanet journal of rare diseases · 2024Article
Corrections and comments
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Given the increased availability of data sources such as hospital information systems, electronic health records, and health-related registries, a novel approach is required to develop artificial intelligence-based decision support that can assist clinicians in their diagnostic decision-making and shorten rare disease patients' diagnostic odyssey. The aim is to identify key challenges in the process of mapping European rare disease databases, relevant to ML-based screening technologies in terms of organizational, FAIR and legal principles. Methods: A scoping review was conducted based on the PRISMA-ScR checklist. The primary article search was conducted in three electronic databases (MEDLINE/Pubmed, Scopus, and Web of Science) and a secondary search was performed in Google scholar and on the organizations' websites. Each step of this review was carried out independently by two researchers. A charting form for relevant study analysis was developed and used to categorize data and identify data items in three domains - organizational, FAIR and legal. Results: At the end of the screening process, 73 studies were eligible for review based on inclusion and exclusion criteria with more than 60% ( Conclusion: Despite the opportunities provided by innovation - automation, electronic health records, hospital-based information systems, biobanks, rare disease registries and European Reference Networks - the results of the current scoping review demonstrate a diversity of the challenges that must still be addressed, with immediate actions on ensuring better governance of rare disease registries, implementing FAIR principles, and enhancing the EU legal framework.
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Registered trials
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