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Estimating the number of diseases – the concept of rare, ultra-rare, and hyper-rare

2022; Cell Press; Volume: 25; Issue: 8 Linguagem: Inglês

10.1016/j.isci.2022.104698

2589-0042

Smith Rjh, Peter Bergman, Daniel W. Hagey,

Cystic Fibrosis Research Advances

At the dawn of the personalized medicine era, the number of rare diseases has been estimated at 10,000. By considering the influence of environmental factors together with genetic variations and our improved diagnostic capabilities, an assessment suggests a considerably larger number. The majority would be extremely rare, and hence, we introduce the term "hyper-rare," defined as affecting <1/10