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An estimate of the cumulative paediatric prevalence of rare diseases in Ireland and comment on the literature

European Journal of Human Genetics volume 30, pages 1211–1215 (2022)Cite this article

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Most rare diseases (RDs) are complex, chronic, disabling and frequently life-threatening. Individuals with RDs, their families and caregivers often face difficulties accessing services, which can negatively impact health and all aspects of life such as social inclusion and access to education and employment [1].

Accurate estimates of any epidemiological indicators of RDs in the Republic of Ireland (ROI) are impeded by a number of factors such as: inadequate coding, lack of unique patient identifier and disjointed datasets. The ensuing health information gaps re-enforce the myth that RDs are uncommon and contribute to an inability to appropriately allocate resources, thus compounding health neglect for RD patients.

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Data availability

All grouped data generated or analysed during this study are included in this published article. No individual data are available to protect the recognition of individual patients.

References

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Funding

The grant support for this study was provided by Temple Street Foundation, Dublin, Ireland. The funder had no role in the study design, execution, analysis or manuscript preparation. The research was undertaken at Temple Street Children’s University Hospital, Dublin.

Author information

Authors and Affiliations

  1. Children’s University Hospital, Temple Street, Dublin, Republic of Ireland

    Emer Gunne & Sally Ann Lynch

  2. National Rare Disease Office, Mater Misericordiae University Hospital, Dublin, Republic of Ireland

    Deborah M. Lambert, Alana J. Ward, Daniel N. Murphy, Eileen P. Treacy & Sally Ann Lynch

Authors
  1. Emer Gunne
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  2. Deborah M. Lambert
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  3. Alana J. Ward
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  4. Daniel N. Murphy
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  5. Eileen P. Treacy
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  6. Sally Ann Lynch
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Contributions

Conception and design of the study: SAL, DML, EPT, and EG. Acquisition of data: EG. Drafting the manuscript: EG, SAL, and DML. Revising the manuscript for important intellectual content: DML, SAL, EG, AJW, DNM, and EPT. Approval of the version of the manuscript to be published: EG, EPT, AJW, DNM, DML, and SAL.

Corresponding author

Correspondence to Emer Gunne.

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Competing interests

The authors declare no competing interests.

Ethical approval

Permission for this project was obtained from CHI Temple Street ethics committee (ref 2017 RD006) and data were handled in compliance with data protection legislation.

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Gunne, E., Lambert, D.M., Ward, A.J. et al. An estimate of the cumulative paediatric prevalence of rare diseases in Ireland and comment on the literature. Eur J Hum Genet 30, 1211–1215 (2022). https://doi.org/10.1038/s41431-022-01144-4

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