There is "significant scope" for expanded screening of newborn babies for more rare diseases, according to a new five year National Rare Disease Strategy, published at the Department of Health.
It also recommends expanded diagnostic and genetic services for people with rare diseases and the setting up of a national rare disease registry.
The strategy calls for early access to medicines, called Orphan medicines, for these diseases, as well as an increase in rare disease research.
Minister for Health Jennifer Carroll MacNeill said the strategy has been informed by the views and lived experiences of patients and their families.
She said it would enable better health through earlier diagnosis, optimal care and support throughout the life course.
Rare diseases are defined as those that affect no more than five people in every 10,000.
An estimated 300,000 people are living with a rare disease in Ireland.
These diseases are chronic, progressive, degenerative and often life threatening.
A year ago, Rare Disease Ireland (RDI) launched a campaign for the system to check newborn babies for rare diseases to be expanded.
Currently the heel prick bloodspot screening test for newborns screens for nine rare diseases.
In 2023, an expert group recommended that two more rare diseases be added - Severe Combined Immunodeficiency and Spinal Muscular Atrophy and this was endorsed by the then health minister, but it has yet to be fully implemented.
It would bring the number of rare diseases screened under the newborn heel prick test to 11.
The report says the heel prick has the potential to screen 50 rare diseases but the numbers vary in European countries and decisions must be based on research and evidence.
In Italy, 48 rare diseases are screened for at birth, while in the UK it is nine.
Around 8,000 rare diseases have been identified to date.
