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Reply to E. Vicente et al.

European Journal of Human Genetics volume 29, pages 1034–1035 (2021)Cite this article

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Thank you to Mrs. Vicente, Pruneda and Ardanaz for their comments on our publication ‘Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database’. We hope, as you do, that both publications stimulate discussion about the standardization of rare diseases and prompts other groups to futher refine the estimates we have presented.

We would like to clarify some points that your letter raises.

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References

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Authors and Affiliations

  1. Inserm, US14-Orphanet, Paris, France

    Ana Rath, Annie Olry & Charlotte Rodwell

  2. Orphanet Ireland, National Rare Diseases Office, Mater Misericordiae University Hospital, Dublin, Ireland

    Deborah M. Lambert

  3. Eurordis - Rare Diseases Europe, Plateforme Maladies Rares, Paris, France

    Yann Le Cam

Authors
  1. Ana Rath
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  2. Deborah M. Lambert
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  3. Annie Olry
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  4. Charlotte Rodwell
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  5. Yann Le Cam
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Correspondence to Ana Rath.

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Rath, A., Lambert, D.M., Olry, A. et al. Reply to E. Vicente et al.. Eur J Hum Genet 29, 1034–1035 (2021). https://doi.org/10.1038/s41431-020-00764-y

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