More than 6,200 rare diseases, characterized by a wide diversity of symptoms, are currently clinically defined. 72% of rare diseases are of genetic origin and 70% of them start in childhood. The lack of reliable information is one of the key issues in relation to the rarity of these diseases. Recognition of this need led to the creation of Orphanet, the reference portal for rare diseases and orphan drugs for all audiences. Orphanet ultimate aims are to improve diagnosis, care and treatment for persons living with a rare disease. Through Sciensano, Belgium contributes to this international Orphanet project.
In Europe, a disease is considered rare when it affects no more than one person in 2,000. These diseases are individually rare, but collectively they are estimated to affect 3.5-5.9% of the global population, which equates to over 300 million persons affected worldwide (Nguengang Wakap S et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. European Journal of Human Genetics, 2020). If we transpose this figure on the Belgian population, it is equivalent to a conservative estimate of 500,000 people suffering from a rare disease in our country.
Rare diseases are characterized by great heterogeneity but they also share common issues: they are often life-threatening or chronically debilitating and require special care as well as a multidisciplinary approach. Moreover, the majority of rare diseases are still poorly known and understood by health professionals. This lack of sufficient scientific and medical knowledge can lead to a missed, delayed or erroneous diagnosis for many patients. On average, almost 5 years are necessary in Belgium to obtain a correct diagnosis.
Orphanet is a freely accessible portal officially supported by the European Commission and individual Member States. This tool is 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. Orphanet users come from 235 countries and Belgium is among the top 10 countries of the website’s audience.
The website is currently available in nine languages (Czech, Dutch, English, French, German, Italian, Polish, Portuguese and Spanish) and offers a range of services, including an inventory of rare diseases, a classification of rare diseases elaborated using existing published expert classifications, a comprehensive peer-reviewed encyclopedia of rare diseases (along with the associated genes) and a database of orphan drugs. It also provides access to a directory of expert resources 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. 40 partner countries as of January 2023, 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 are also available. Moreover, Orphanet improves the visibility of rare diseases by developing unique and stable identifiers, the ORPHAcodes. These codes offer an accurate way to exchange data about rare diseases between systems/people/countries and allow the unambiguous identification of rare diseases in health and research information systems.
Orphadata, a platform developed by Orphanet, provides the scientific community with comprehensive, high quality and freely accessible datasets related to rare diseases and orphan drugs, in a reusable format. Orphanet also provides its users with the Orphanet Rare Disease Ontology (ORDO), a structured vocabulary for rare diseases derived from the Orphanet database, capturing relationships between diseases, genes and other relevant features, and providing integrated, re-usable data for computational analysis.
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 field. A national board composed of representatives of Sciensano, the NIHDI and the FPS Public Health provides further project governance.
Each country participating in the Orphanet consortium provides specific information via a national website. The Orphanet Belgium website is accessible in two languages (Dutch and French) and updated continuously.