COMMENT

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

Search for this author in:

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

Search for this author in:

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

Search for this author in:

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

Search for this author in:

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

Search for this author in:

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

Search for this author in:

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

Search for this author in:

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

Search for this author in:

Pryzm Health, Perth, Australia.

Search for this author in:

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

Search for this author in:

HBF Health Limited, Perth, Australia.

Search for this author in:

INSERM, US14-Orphanet, Paris, France.

Search for this author in:

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

Search for this author in:

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

Search for this author in:

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

Search for this author in:

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

Search for this author in:

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

Search for this author in:

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

Search for this author in:

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

Search for this author in:

Access optionsAccess options

Rent or Buy article

Get time limited or full article access on ReadCube.

from$8.99

All prices are NET prices.

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

doi: 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.

References

  1. 1.

    Haendel, M. A., Chute, C. G. & Robinson, P. N. Classification, ontology, and precision medicine. N. Engl. J. Med. 379, 1452–1462 (2018).

  2. 2.

    Haendel, M. A. et al. A census of disease ontologies. Annu. Rev. Biomed. Data Sci. 1, 305–331 (2018).

  3. 3.

    Oprea, T. I. et al. Unexplored therapeutic opportunities in the human genome. Nat. Rev. Drug Discov. 17, 317-332 (2018).

  4. 4.

    Mungall, C. J. et al. k-BOOM: a Bayesian approach to ontology structure inference, with applications in disease ontology construction. bioRxiv 048843; doi: https://doi.org/10.1101/048843 (2019).

  5. 5.

    Tambuyzer, E. et al. Therapies for rare diseases: therapeutic modalities, progress and challenges ahead. Nat. Rev. Drug Discov. 19, 93–111 (2020).

Download references

Supplementary Information

  1. Supplementary Box 1

Competing Financial 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.

Nature Briefing

An essential round-up of science news, opinion and analysis, delivered to your inbox every weekday.