ArticleOrphanet journal of rare diseases2016
The context for the thematic grouping of rare diseases to facilitate the establishment of European Reference Networks.
Article in Orphanet journal of rare diseases, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 45 citations in OpenAlex.
- Exploring network relations between healthcare access and utilisation in individuals with rare diseases.Public health in practice (Oxford, England) · 2025Article
- Identification of strengths and weaknesses of the healthcare system for persons living with rare diseases in Catalonia (Spain), and recommendations to improve its comprehensive attention: the "acERca las enfermedades raras" project.Orphanet journal of rare diseases · 2025Article
- European multidisciplinary tumor boards support cross-border networking and increase treatment options for patients with rare gynecological tumors.International journal of gynecological cancer : official journal of the International Gynecological Cancer Society · 2023Article
- Together4RD position statement on collaboration between European reference networks and industry.Orphanet journal of rare diseases · 2023Article
- Frequency of Participation in External Quality Assessment Programs Focused on Rare Diseases: Belgian Guidelines for Human Genetics Centers.JMIR medical informatics · 2021Article
- eHealth for patients with rare diseases: the eHealth Working Group of the European Reference Network on Rare Multisystemic Vascular Diseases (VASCERN).Orphanet journal of rare diseases · 2021Article
- Rare skeletal disorders: a multidisciplinary postnatal approach to diagnosis and management.Wiener medizinische Wochenschrift (1946) · 2021Article
- Belgian rare diseases plan in clinical pathology: identification of key biochemical diagnostic tests and establishment of reference laboratories and financing conditions.Orphanet journal of rare diseases · 2021Article
- The Burden of Spinal Muscular Atrophy on Informal Caregivers.International journal of environmental research and public health · 2020Article
- Providing high-quality care remotely to patients with rare bone diseases during COVID-19 pandemic.Orphanet journal of rare diseases · 2020Article
- Establishing Patient Registries for Rare Diseases: Rationale and Challenges.Pharmaceutical medicine · 2020Review
- Share and protect our health data: an evidence based approach to rare disease patients' perspectives on data sharing and data protection - quantitative survey and recommendations.Orphanet journal of rare diseases · 2019Article
- Position statement on access to care in rare liver diseases: advancements of the European reference network (ERN) RARE-LIVER.Orphanet journal of rare diseases · 2019Article
- Current and Emerging Therapeutic Options for the Management of Rare Skeletal Diseases.Paediatric drugs · 2019Review
- Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome.Emerging topics in life sciences · 2019Article
- Recommendations for the design of small population clinical trials.Orphanet journal of rare diseases · 2018Article
- Research, diagnosis and education in inborn errors of metabolism in Colombia: 20 years' experience from a reference center.Orphanet journal of rare diseases · 2018Review
- Quality of health care in adolescents and adults with disorders/differences of sex development (DSD) in six European countries (dsd-LIFE).BMC health services research · 2018Article
- Rare diseases under different levels of economic analysis: current activities, challenges and perspectives.RMD open · 2018Review
- Review of 11 national policies for rare diseases in the context of key patient needs.Orphanet journal of rare diseases · 2017Review
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Authors and funding
7 authors at 2 institutions in 2 countries.
Funding
Abstract
backgroundIn the past few years there has been a political imperative driving the creation of European Reference Networks as these are considered a promising way to achieve equity in access to the most up to date medical care across Europe. The right to equity in the access to care was established by the directive of the European Parliament and of the Council on the application of patients' rights in cross-border healthcare. The particular situation for Rare Diseases whereby sharing of expertise can be regarded as especially valuable, as well as the work that is already in place in the networking of Rare Diseases experts means that Rare Diseases are considered excellent models for the development of European Reference Networks. DISCUSSION: To be effective, a Rare Disease network should be based on the common effort of different stakeholders and be built on what is present in the community. European Reference Networks are an excellent model to overcome some of the specificities of rare diseases: scarcity of patients, resources and expertise. European Reference Networks with broad scope will allow the rare disease community the possibility of reaching a larger number of patients and more diversified rare diseases. The practical value of grouping rare diseases in broad networks is well demonstrated in different grouping systems present in Europe (EURORDIS grouping of diseases, "Les filières de santé maladies rares", Orphanet classification and the UK Research Model). In this paper the authors, partners of EUCERD Joint Action, address some of the questions that surround the establishment of European Reference Networks. We will focus on how Rare Diseases could be efficiently grouped in order to constitute European Reference Networks and how they might be structured to allow each and every disease to benefit from networking.
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