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Regarding the estimations of people affected by rare diseases

European Journal of Human Genetics volume 29, pages 1032–1033 (2021)Cite this article

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We have read with great interest the manuscript written by Nguengang Wakap et al. estimating cumulative point prevalence of rare diseases (RDs) [1].

Undoubtedly, it must be considered as a landmark analysis and the first robust estimation of the cumulative point prevalence of RDs, since previously reported figures (6–8%) did not come from any solid study, and the original citations and bibliographic references were all circularly quoted from each other [2]. However, we believe that their Orphanet data-based results should widely be discussed by the scientific community.

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References

  1. Nguengang Wakap S, Lambert DM, Olry A, Rodwell C, Gueydan C, Lanneau V, et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet. 2020;28:165–73.

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Authors and Affiliations

  1. Community Health Observatory Section, Instituto de Salud Pública y Laboral de Navarra, IdiSNA (Navarra Institute for Health Research), Pamplona, Spain

    Esther Vicente & Eva Ardanaz

  2. Department of Health Sciences, Universidad Pública de Navarra, IdiSNA, Pamplona, Spain

    Esther Vicente

  3. ERN TransplantChild, Hospital La Paz Institute for Health Research (IdiPAZ), Madrid, Spain

    Laura Pruneda

  4. CIBER de Epidemiología y Salud Pública (CIBERESP), Madrid, Spain

    Eva Ardanaz

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  1. Esther Vicente
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  2. Laura Pruneda
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Correspondence to Esther Vicente.

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Vicente, E., Pruneda, L. & Ardanaz, E. Regarding the estimations of people affected by rare diseases. Eur J Hum Genet 29, 1032–1033 (2021). https://doi.org/10.1038/s41431-020-00763-z

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