1. Newborn Screening: 1 heel prick test has the potential to diagnose 50 diseases, Charles River Associates Report, January 2024

2. HSE National Children's Screening Programmes Report 2020 - 2022

3. United States CDC reports a 1 in 300 positivity rate for newborn screening based on 29 conditions tested. Applying this ratio to Irish birth rates for the year 2022, we can surmise the following:

4. The Cost of Delayed Diagnosis in Rare Disease: A health economic study, Everylife Foundation for Rare Diseases, September 2023

5. Consolidated principles for screening based on a systematic review and consensus process, Dobrow et al, CMJ 2018

8. Rare Reality Report, Rare Diseases Ireland, January 2022

10. An estimate of the cumulative paediatric prevalence of rare diseases in Ireland and comment on the literature, Gunne et al. Eur. J. of Hum. Gen. 30, 1211-1215 (2022)

11. A retrospective review of the contribution of rare diseases to paediatric mortality in Ireland, Gunne et al. Orphanet J. Rare Dis. (2020) 15:311