How many rare diseases are there?

Nat Rev Drug Discov. 2020 Feb;19(2):77-78. doi: 10.1038/d41573-019-00180-y.

Abstract

A lack of robust knowledge of the number of rare diseases and the number of people affected by them limits the development of approaches to ameliorate the substantial cumulative burden of rare diseases. Here, we call for coordinated efforts to more precisely define rare diseases.

Publication types

  • News

MeSH terms

  • Humans
  • Phenotype
  • Rare Diseases / classification*
  • Rare Diseases / diagnosis
  • Rare Diseases / epidemiology*
  • Rare Diseases / therapy