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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A voz das pessoas com doenças raras na EuropaEURORDIS A voz internacional das pessoas com doenças raras, Rare Diseases InternacionalRare Disease International Reúne doentes, famílias e especialistas para partilhar experiências num fórum multilinguístico. RareConnect O programa Rare Barometer é uma iniciativa da EURORDIS para a realização de inquéritos para transformar a experiência das pessoas com doenças raras em números e factos que podem ser partilhados com os responsáveis pela tomada de decisões.Rare Barometer An international awareness raising campaign taking place on the last day of February each year, Rare Disease Day is a EURORDIS initiativeRare Disease Day Adira ao maior encontro europeu das partes interessadas no âmbito das doenças raras na Conferência Bienal Europeia sobre Doenças Raras e Produtos Órfãos. A ECRD é uma iniciativa da EURORDISEuropean Conference on Rare Diseases