Rare diseases occur worldwide but little is known about their specific prevalences. A new database makes it possible to generate valid figures for the first time. According to this database, up to 300 million people worldwide are currently affected by a rare disease.
The Orphanet database of INSERM (French: Institut National de la Santé et de la Recherche Médicale) is the world's first coordinated database on rare diseases. The data is mainly fed by information from relevant publications.
Rare diseases are defined as diseases affecting less than 5 people per 10,000. So far, there have been very few epidemiological studies on this topic and population statistics have rarely been used to evaluate the data. This has made it impossible to estimate the global prevalence of these diseases.
Originally founded in 1997, INSERM now comprises partners from 40 countries, mainly in Europe. In the present study, the scientists examined data sets on a total of 3,585 rare diseases. However, rare tumors, infections or consequences of poisoning were excluded.
The database estimates that about 4% of the world's population currently suffers from a rare disease. In human terms, this is over 300 million people. Of all the diseases studied, more than 80% are found in only 149 of these rare diseases. 72% are also genetically determined.
In summary, rare diseases are not so rare. However, many of these diseases and thus also those affected themselves are not so visible in public discourse, media, policies, and health systems. In the end, this often means that they are inadequately cared for within the health system, receive little support, or are even not provided any financial support or reimbursement for existing therapeutic approaches, which can be extraordinarily expensive.
Valid estimates of the number of patients affected by rare diseases are therefore a first step towards intensifying research into these diseases in the future, but above all towards providing them with the best possible treatment.