Strategy and Policy Documents:

National Rare Disease Plan 2014-2018

Read the National Rare Disease Plan for Ireland (2014-2018).

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Model of Care for Rare Diseases

Read the Model of Care for Rare Diseases for Ireland.

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Model of Care for Transition from Paediatric to Adult Healthcare Providers in Rare Diseases

Read the Model of Care for Transition from Paediatric to Adult Healthcare Providers in Rare Diseases for Ireland.

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Publications:

Designing rare disease care pathways in the Republic of Ireland: a co-operative model

Ward, A.J., Murphy, D., Marron, R. et al. Designing rare disease care pathways in the Republic of Ireland: a co-operative model. Orphanet J Rare Dis 17, 162 (2022).

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

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).

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Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database

Nguengang Wakap, S., Lambert, D.M., Olry, A. et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet 28, 165–173 (2020). 

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