How many rare diseases are there?

Melissa Haendel, Nicole Vasilevsky, Deepak Unni, Cristian Bologa, Nomi Harris, Heidi Rehm, Ada Hamosh, Gareth Baynam, Tudor Groza, Julie McMurry, Hugh Dawkins, Ana Rath, Courtney Thaxon, Giovanni Bocci, Marcin P. Joachimiak, Sebastian Köhler, Peter N. Robinson, Chris Mungall, Tudor I. Oprea

Research output: Contribution to journalComment/debatepeer-review

115 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)77-78
Number of pages2
JournalNature Reviews Drug Discovery
Issue number2
StatePublished - Feb 1 2020

ASJC Scopus subject areas

  • Pharmacology
  • Drug Discovery


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