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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La voz de los pacientes de enfermedades raras en EuropaEURORDIS La voz internacional de las personas que tienen enfermedades rarasRare Disease International Reuniendo a pacientes, familiares y expertos para compartir experiencias en un foro moderado en distintos idiomas. RareConnect El Programa Rare Barometer es una iniciativa de EURORDIS que realiza encuestas para transformar las experiencias de los pacientes con enfermedades raras en cifras que puedan compartirse con los responsables políticos.Rare Barometer Una campaña internacional de sensibilización que se celebra todos los años el último día de febrero, El Día de las Enfermedades Raras es una iniciativa de EURORDISRare Disease Day Únete al mayor grupo de partes interesadas en toda Europa, en la Conferencia Europea sobre Enfermedades Raras y Medicamentos Huérfanos que se celebra cada dos años. ECRD es una iniciativa de EURORDISEuropean Conference on Rare Diseases