ArticleOrphanet journal of rare diseases2022
Recommendations from the IRDiRC Working Group on methodologies to assess the impact of diagnoses and therapies on rare disease patients.
Article in Orphanet journal of rare diseases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Capturing Real-World Rare Disease Patient Journeys: Are Current Methodologies Sufficient for Informed Healthcare Decisions?Journal of evaluation in clinical practice · 2025Pooled it
- Diagnostic delay, misdiagnosis, and patient-reported psychosocial burden among Chinese individuals with McCune-Albright syndrome: a national cross-sectional survey.Orphanet journal of rare diseases · 2026Article
- RareInsight simplifies the communication of genetic results for rare disease patients.Scientific reports · 2025Article
- Integrating Digital Health Innovations to Achieve Universal Health Coverage: Promoting Health Outcomes and Quality Through Global Public Health Equity.Healthcare (Basel, Switzerland) · 2025Review
- Behavioral profiles and social relationships in Wiedemann-Steiner syndrome: parent reports on 25 cases.Orphanet journal of rare diseases · 2025Article
- The role of public health in rare diseases: hemophilia as an example.Frontiers in public health · 2025Review
- The Enigma That Is ROHHAD Syndrome: Challenges and Future Strategies.Brain sciences · 2024Review
- Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathies.BMC medical informatics and decision making · 2024Article
- An algorithm to identify patients aged 0-3 with rare genetic disorders.Orphanet journal of rare diseases · 2024Article
- Performance and clinical utility of a new supervised machine-learning pipeline in detecting rare ciliopathy patients based on deep phenotyping from electronic health records and semantic similarity.Orphanet journal of rare diseases · 2024Article
- Diagnostic journey for individuals with fibrous dysplasia / McCune albright syndrome (FD/MAS).Orphanet journal of rare diseases · 2024Article
- Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report.European journal of human genetics : EJHG · 2024Article
- Enhancing phenotype recognition in clinical notes using large language models: PhenoBCBERT and PhenoGPT.Patterns (New York, N.Y.) · 2024Article
- Stigma associated with genetic testing for rare diseases-causes and recommendations.Frontiers in genetics · 2024Review
- Drug Repurposing in Crohn's Disease Using Danish Real-World Data.Pragmatic and observational research · 2024Article
- Phenotype-Driven Molecular Genetic Test Recommendation for Diagnosing Pediatric Rare Disorders.Research square · 2023Article
- Enhancing Phenotype Recognition in Clinical Notes Using Large Language Models: PhenoBCBERT and PhenoGPT.ArXiv · 2023Article
- The future of rare autonomic disease research.Clinical autonomic research : official journal of the Clinical Autonomic Research Society · 2023Article
- Phenotypic screening models for rapid diagnosis of genetic variants and discovery of personalized therapeutics.Molecular aspects of medicine · 2023Review
- An EU task force to assess the burden of rare diseases.Nature medicine · 2023Article
Corrections and comments
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Rare disease patients face many challenges including diagnostic delay, misdiagnosis and lack of therapies. However, early access to diagnosis and therapies can modify the management and the progression of diseases, which in return positively impacts patients, families and health care systems. The International Rare Diseases Research Consortium set up the multi-stakeholder Working Group on developing methodologies to assess the impact of diagnoses and therapies on rare disease patients. Using the patients' journey on the diagnostic paradigm, the Working Group characterized a set of metrics, tools and needs required for appropriate data collection and establishment of a framework of methodologies to analyze the socio-economic burden of rare diseases on patients, families and health care systems. These recommendations are intended to facilitate the development of methodologies and to better assess the societal impact of rare diseases.
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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.