Rare diseases (RDs) are life-threatening or chronically debilitating conditions, often inherited, that affect a very small number of individuals. Because of their rarity, collective efforts are essential to reduce the incidence of these diseases, prevent the deaths of newborns and young children, and improve the quality of life and socio-economic opportunities for those affected.

In EU countries, any disease affecting fewer than 5 people in 10 000 is considered rare. That number may seem small, but it translates into approximately 246 000 people throughout the EU's 28 member countries. Most patients suffer from even rarer diseases affecting 1 person in 100 000 or more.

Globally, it estimated that 3.5-5.9% of the world's population, equivalent to 263-446 million people, is affected by rare diseases. As this analysis did not consider rare cancers, infectious diseases and poisonings, the number of people affected by RDs is likely considerably higher.

These conditions are often overlooked by researchers and clinicians, carrying profound genetic and often neurological implications.

Rare diseases are rare, bur rare diseases patients are numerous.

Watch our video published in occasion of Rare Diseases Day 2024!

Source:

• Nguengang Wakap, S., Lambert, D.M., Olry, A. et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet 28, 165–173 (2020). https://lnkd.in/ey-UaynS
• Data were retrieved from Orphanet, a database gathering and improving knowledge on rare diseases to improve the diagnosis, care and treatment of patients with rare diseases.

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