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 Thaxton,Giovanni Bocci,Marcin P. Joachimiak,Sebastian Köhler,Peter N. Robinson,Chris Mungall,Tudor I. Oprea

NATURE REVIEWS DRUG DISCOVERY（2019）

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摘要

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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