For the first time, a study makes it possible to estimate the number of people affected by rare diseases throughout the world. Created and coordinated by Inserm with the Orphanet knowledge base, this estimate has arrived at more than 300 million patients worldwide.
To be rare in Europe, a disease must not affect more than 5 people out of 10,000. This is the case of systemic sclerosis, polycythemia vera or Marfan syndrome. They are so misunderstood that they are little studied and therefore less well taken care of.
The lack of knowledge on the subject has so far prevented establishing an order of priorities in terms of health and research policies, explains Inserm in a press release.
Rare diseases, rare patients?
“As rare diseases are poorly understood, one might think that the patients are rare. However, they constitute, as a whole, a large proportion of the population. Even if the diseases are individual and particular, they all share the rarity, and the consequences that resulting”underlines Ana Rath, of Inserm unit US14.
Today, around the world, approximately 4% of the population is affected by a rare disease. This term does not include rare cancers, rare pathologies caused by infections or poisonings.
Among the 6,000 pathologies analyzed by the researchers in this study, and listed in Orphanet, 149 are responsible for 80% of the cases of rare diseases declared throughout the world.
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