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How many rare diseases are there?

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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.

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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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