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

doi:10.1038/d41573-019-00180-y

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 journal › Comment/debate › peer-review

115 Scopus citations

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.

Original language	English (US)
Pages (from-to)	77-78
Number of pages	2
Journal	Nature Reviews Drug Discovery
Volume	19
Issue number	2
DOIs	https://doi.org/10.1038/d41573-019-00180-y
State	Published - Feb 1 2020

ASJC Scopus subject areas

Pharmacology
Drug Discovery

Access to Document

10.1038/d41573-019-00180-y

Cite this

Haendel, M., Vasilevsky, N., Unni, D., Bologa, C., Harris, N., Rehm, H., Hamosh, A., Baynam, G., Groza, T., McMurry, J., Dawkins, H., Rath, A., Thaxon, C., Bocci, G., Joachimiak, M. P., Köhler, S., Robinson, P. N., Mungall, C., & Oprea, T. I. (2020). How many rare diseases are there? Nature Reviews Drug Discovery, 19(2), 77-78. https://doi.org/10.1038/d41573-019-00180-y

@article{060247e788cf49e9adec78dc01a7ecba,

title = "How many rare diseases are there?",

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.",

author = "Melissa Haendel and Nicole Vasilevsky and Deepak Unni and Cristian Bologa and Nomi Harris and Heidi Rehm and Ada Hamosh and Gareth Baynam and Tudor Groza and Julie McMurry and Hugh Dawkins and Ana Rath and Courtney Thaxon and Giovanni Bocci and Joachimiak, {Marcin P.} and Sebastian K{\"o}hler and Robinson, {Peter N.} and Chris Mungall and Oprea, {Tudor I.}",

note = "Funding Information: NIH grant R24 OD011883 provided funding to M.H., C.M., P.N.R., N.V., J.M., N.H., D.U. and M.P.H. NIH grants U24 CA224370, U24 TR002278, U01 CA239108 and P30 CA118100 provided funding to G.B., C.B., C.M., T.I.O. and P.N.R. The Angela Wright Bennett Foundation and the McCusker Charitable Foundation support Gareth Baynam. OMIM is funded by NIH grant U41 HG006627. Publisher Copyright: {\textcopyright} 2020, Nature.",

year = "2020",

month = feb,

day = "1",

doi = "10.1038/d41573-019-00180-y",

language = "English (US)",

volume = "19",

pages = "77--78",

journal = "Nature Reviews Drug Discovery",

issn = "1474-1776",