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How many rare diseases are there?

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

Published Web Location

https://media.nature.com/original/magazine-assets/d41573-019-00180-y/d41573-019-00180-y.pdf
No data is associated with this publication.
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.

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