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How many rare diseases are there?

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.
  1. Melissa Haendel

    1. Oregon Clinical & Translational Science Institute, Oregon Health & Science University, Portland, OR, USA.

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    1. Oregon Clinical & Translational Science Institute, Oregon Health & Science University, Portland, OR, USA.

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  3. Deepak Unni

    1. Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA.

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  4. Cristian Bologa

    1. Department of Internal Medicine and UNM Comprehensive Cancer Center, UNM School of Medicine, Albuquerque NM, USA.

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  5. Nomi Harris

    1. Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA.

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  6. Heidi Rehm

    1. Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.

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  7. Ada Hamosh

    1. McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.

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  8. Gareth Baynam

    1. Western Australian Register of Developmental Anomalies and Genetic Services of Western Australia, King Edward Memorial Hospital, WA Department of Health, Perth, Australia.

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  9. Tudor Groza

    1. Pryzm Health, Perth, Australia.

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  10. Julie McMurry

    1. College of Public Health and Human Sciences, Oregon State University, Corvallis, OR, USA.

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  11. Hugh Dawkins

    1. HBF Health Limited, Perth, Australia.

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  12. Ana Rath

    1. INSERM, US14-Orphanet, Paris, France.

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  13. Courtney Thaxton

    1. Department of Genetics, University of North Carolina, Chapel Hill, NC, USA.

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  14. Giovanni Bocci

    1. Department of Internal Medicine and UNM Comprehensive Cancer Center, UNM School of Medicine, Albuquerque NM, USA.

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  15. Marcin P. Joachimiak

    1. Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA.

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  16. Sebastian Köhler

    1. Charité Centrum für Therapieforschung, Charité—Universitätsmedizin Berlin Corporate Member of Freie Universität Berlin, Berlin, Germany.

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  17. Peter N. Robinson

    1. Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.

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  18. Chris Mungall

    1. Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA.

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  19. Tudor I. Oprea

    1. Department of Internal Medicine and UNM Comprehensive Cancer Center, UNM School of Medicine, Albuquerque NM, USA.

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The phenotypic, genetic and environmental characteristics that define a given disease are often established in different demographics, regions or contexts. Multiple observations in different human subpopulations corroborate disease definitions, supporting standardized diagnostic capabilities and therapeutic approaches.

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Nature Reviews Drug Discovery 19, 77-78 (2020)

doi: https://doi.org/10.1038/d41573-019-00180-y

Acknowledgements

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.

Updates & Corrections

  • Correction 14 July 2023: An error in the spelling of Courtney Thaxton's name has been corrected.

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Supplementary Information

  1. Supplementary Box 1

Competing Interests

M.H., J.M. and T.G. are co-founders of Pryzm Health. T.G. has received funding or consulted for Johnson & Johnson. A.H. owns stock in Blade Therapeutics. T.I.O. has received honoraria or consulted for Abbott, AstraZeneca, Chiron, Genentech, Infinity Pharmaceuticals, Merz Pharmaceuticals, Merck Darmstadt, Mitsubishi Tanabe, Novartis, Ono Pharmaceuticals, Pfizer, Roche, Sanofi and Wyeth.

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