Article: Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database

A scientific paper confirms the number of people living with a rare disease is estimated at 300 million worldwide. The open-access article, written 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), was published in the European Journal of Human Genetics.

According to the research published in the paper, rare diseases currently affect at any point in time 3.5% - 5.9% of the worldwide population, equivalent to a conservative estimate of 300 million people worldwide (4% of the estimated world population of 7.5 billion
), the number used until now by EURORDIS and Rare Diseases International. The analysis shows that there are over 6,000 clinically defined rare diseases, 72% are genetic, and of those 70% of rare diseases start in childhood.

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