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In short
The number of rare diseases is estimated at approximately 7.000, with around 70% affecting children and almost 80% having a genetic origin. The lack of reliable information is perceived as one of the key issues in relation to the rarity of the disease. Recognition of this need led to the creation of Orphanet, the international reference portal for rare diseases and orphan drugs for all audiences. Orphanet ultimate aims are to improve diagnosis, care and treatment for patients with a rare disease. Through Sciensano, Belgium contributes to this international Orphanet project.
Project summary
In Europe, a disease is considered as rare when it affects no more than one person in 2.000. These diseases are individually rare, but collectively they are estimated to affect 6–8% of the population. They are often life-threatening or chronically debilitating. Many rare diseases are poorly understood by health professionals. This lack of sufficient scientific and medical knowledge can lead to a missed, delayed or wrong diagnosis for many patients.
Orphanet is a freely accessible website officially supported by the European Commission and individual Member States. It is a tool dedicated to a broad range of end-users from patients to healthcare professionals, researchers, decision-makers, pharmaceutical companies, etc. Its mission is to contribute to improvements in the diagnosis and treatment by providing expert-validated and continuously updated information about rare diseases but also about the available services and research in the domain.
The website is currently available in eight languages (English, French, Spanish, Italian, German, Dutch, Portuguese and Polish) and offers a range of services, including a comprehensive peer-reviewed encyclopedia of rare diseases (along with the associated genes) written by experts and a database of orphan drugs providing information on their stage of development. It also provides access to a directory of expert services by disease, such as expert centres, medical laboratories and diagnostic tests, patient organisations, research projects, clinical trials, patients and mutations registries and biobanks in each country of the Orphanet consortium (i.e. 39 partner countries at the end of 2019, including the Member States of the European Union).
Downloadable thematic studies and reports on topics such as the prevalence of rare diseases, orphan drugs, aids and services for patients and numerous links to other sources of information are also available. Moreover, Orphanet improves the visibility of rare diseases in health and research by developing unique and stable identifiers, the ORPHAcodes, that can be used to identify rare diseases in health information systems.
At a European level, Orphanet is coordinated by the French INSERM team. In Belgium, an Orphanet national team, hosted by Sciensano, is responsible for collecting, validating and publishing information about the Belgian specialised resources in the rare diseases domain. A national board composed of representatives of Sciensano, the NIHDI and the FPS Public Health provides further project governance.
Orphanet users come from 235 countries and Belgium is among the top 10 countries of the website’s audience.