ArticleOrphanet journal of rare diseases2022
Rare disease education in Europe and beyond: time to act.
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 30 papers.
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Who cites it
30 citing papers in PubMed.
- Crisis readiness for rare disease populations: learnings and recommendations by the European Reference Networks.The Lancet regional health. Europe · 2026Review
- A text mining and ontology-based approach using phenotypes to obtain relevant literature for rare diseases.iScience · 2026Article
- Main Recommendations for Developing Education and Awareness Strategies for Rare Diseases: Scoping Review.JMIR medical education · 2026Article
- European Reference Networks - a flagship activity of the EU in the field of rare and complex diseases: from 2017 to 2025.Orphanet journal of rare diseases · 2026Review
- Translating multi-omics into healthcare: requisites for scalable and equitable implementation.Human genomics · 2026Review
- Unmet health care needs in immune thrombotic thrombocytopenic purpura survivors.Research and practice in thrombosis and haemostasis · 2026Article
- Achalasia: Physician Practices and Knowledge in Türkiye.The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology · 2026Article
- The dual burden of a rare cancer: psychosocial impact of disease symptoms and unmet care needs in cutaneous T-cell lymphoma.Frontiers in psychology · 2026Article
- "We are ambassadors, we are advocates": rare disease patient advocacy groups as knowledge brokers across health and social systems-a qualitative study from Poland.Frontiers in public health · 2026Article
- Development on the Proficiency of Diagnosis and Clinical Care for Rare Diseases in Young Physicians in China.Health care science · 2025Article
- POLR3-Related Leukodystrophy: A Qualitative Study on Parents' Experiences With the Health Care System.Pediatric neurology · 2025Article
- Effects of continuing medical education on emergency trainees' rare disease knowledge and attitude: a single-center study.BMC medical education · 2025Article
- Landscape of paediatric endocrine clinical practice in Italy: results from a survey of the Italian Society for Paediatric Endocrinology and Diabetology (ISPED).Italian journal of pediatrics · 2025Article
- Post-traumatic growth and influencing factors of parents with children with Duchenne muscular dystrophy: a cross-sectional survey study.Italian journal of pediatrics · 2025Article
- Barriers to the Management of Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.The Journal of clinical endocrinology and metabolism · 2025Review
- The United Nations convention on rare diseases-A framework for research prioritization.Frontiers in public health · 2025Article
- Psycho-Emotional Aspects of Pregnant Women Diagnosed with a Rare Disease: A Systematic Review.Nursing reports (Pavia, Italy) · 2024Review
- Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases.Orphanet journal of rare diseases · 2024Article
- [Rare diseases in a medical genetics service of population with social security].Revista medica del Instituto Mexicano del Seguro Social · 2024Article
- Rare diseases: still on the fringes of universal health coverage in Europe.The Lancet regional health. Europe · 2024Review
Corrections and comments
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Authors and funding
14 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
People living with rare diseases (PLWRD) still face huge unmet needs, in part due to the fact that care systems are not sufficiently aligned with their needs and healthcare workforce (HWF) along their care pathways lacks competencies to efficiently tackle rare disease-specific challenges. Level of rare disease knowledge and awareness among the current and future HWF is insufficient. In recent years, many educational resources on rare diseases have been developed, however, awareness of these resources is still limited and rare disease education is still not sufficiently taken into account by some crucial stakeholders as academia and professional organizations. Therefore, there is a need to fundamentally rethink rare disease education and HWF development across the whole spectrum from students to generalists, specialists and experts, to engage and empower PLWRD, their families and advocates, and to work towards a common coherent and complementary strategy on rare disease education and training in Europe and beyond. Special consideration should be also given to the role of nurse coordinators in care coordination, interprofessional training for integrated multidisciplinary care, patient and family-centered education, opportunities given by digital learning and fostering of social accountability to enforce the focus on socially-vulnerable groups such as PLWRD. The strategy has to be developed and implemented by multiple rare disease education and training providers: universities, medical and nursing schools and their associations, professional organizations, European Reference Networks, patient organizations, other organizations and institutions dedicated to rare diseases and rare cancers, authorities and policy bodies.
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