Orphanet unveils major and unique new scientific content on epidemiology, genetics and categorisation of clinical entities
Orphanet has recently incorporated new data to offer the best possible service in terms of information on rare diseases, and new functionalities to make searches for information on rare diseases more user-friendly. The additional data and tools aim to fine-tune and improve the accuracy of disease categorisation, disease epidemiology and the genetic contribution to disease onset. Most of the new data is accessible for download on Orphadata for reuse by investigators, policymakers and industry. The new data will also enrich ORDO, Orphanet’s rare disease ontology, over the next few months.
A better categorisation of diseases and a better characterisation of their equivalence in other terminologies
The database entries in Orphanet are diseases, but also include syndromes, anomalies, malformations, groups of diseases and disease sub-types. From now on, each clinical entity is assigned precisely one of these categories, allowing more accurate information on their exact number. Other precisions include updates on diseases now recognised under a different name or as part of another disease. Orphanet will redirect users towards the disease now accepted according to the literature. Similarly, a link on the website will redirect users to existing information on disease sub-types.
Orphanet has already generated alignments between ORPHA nomenclature and other terminologies, such as OMIM or other coding systems, including ICD-10, SNOMED-CT, MedDRA, MeSH and UMLS. Alignment between Orphacodes and ICD-10 has now been completed. It is now indicated whether terminology equivalence is exact or partial. This information will improve interoperability between databases that use different nomenclatures.
Extended genetic data
Genetic entries have also been expanded to provide information on the protein coded by the gene and the gene, the specific chromosomal location and all former symbols and synonyms.
Information on the relationship between genes and diseases was already provided, according to the following categories: “causal gene”, “modifier gene” or “susceptibility causing gene”. Functional information has been added, where available, on germline causal loss-of-function or gain-of-function mutations (for those that can be transmitted to future generations and are sufficient to cause disease). Such information is of particular interest for therapeutic research.
Large quantity of new epidemiological data
Disease hereditary patterns and age of onset categories have been refined for more accurate information. Prevalence, annual incidence, prevalence at birth and lifetime prevalence data are now available for download on Orphadata, in addition to prevalence intervals already available. Minimum, maximum and mean figures for each item are documented according to geographic zones where the information is available. The number of cases or families reported in the literature is also indicated for very rare diseases, and data sources and validity are supplied.
These new epidemiological entries available on a large number of rare diseases constitute a unique and global source of information which we hope are useful to all concerned users, namely policymakers, the research community and industrial actors involved in orphan drug development.