New scientific paper using Orphanet data provides prevalence figures on number of people living with a rare disease globally

A new scientific paper entitled “Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database has just been published in the European Journal of Human Genetics. This paper is co-authored by Orphanet (coordinated by INSERM, the French National Institute of Health and Medical Research), EURORDIS – Rare Diseases Europe and Orphanet Ireland (based at the National Rare Diseases Office, Mater Misericordiae University Hospital, Dublin, Ireland).

It is the first publication to provide a robust evidence-based evaluation of the cumulative global point prevalence of Rare Diseases (RDs) using the epidemiological data from the Orphanet database. After an extensive step by step analyses of prevalence data, the estimate for the population prevalence of rare diseases worldwide was determined to be of 3.5–5.9%, which equates to 18–30 million persons in the EU, and 263–446 million persons affected globally at any point in time.

As rare cancers, infectious diseases, poisonings and disorders that did not allow for point prevalence to be calculated were excluded from this analysis the true cumulative point prevalence for all RDs is likely to be higher.

This new publication further enforces Orphanet’s motto that “rare diseases are rare, but rare disease patients are numerous” and is an important paper to support the need to make rare diseases a national and global public health priority.

Read the press release for this publication here

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