Each country takes a different approach to rare diseases, from the way it defines the term to the health policies it implements to its approach to research. In Ireland, as in the rest of Europe, rare diseases are defined as those that affect 1 in 2,000 people. An estimated 300,000 people live with a rare disease in Ireland, which has a national population of approximately 5 million.
Most rare diseases have genetic causes, and in Ireland there are known clusters of these conditions. Severe combined immunodeficiency (SCID) variants, for instance, are present in the Irish Traveller community. And it’s estimated that 1 in 10 people are at risk of developing iron overload due to hereditary hemochromatosis, which is more common in Ireland than anywhere else globally.
We recently visited Ireland and learned more about the country’s rare disease efforts, which included plans to implement a new national strategy ensuring that people who have rare diseases can quickly gain access to the best possible health care.
New National Strategy
Ireland’s rare disease approach emphasizes expanded screening and investment in genetic testing and treatment options, including medications. The government’s National Rare Disease Strategy 2025–2030 is detailed in an evidence-based report that was published last summer (see https://assets.gov.ie/static/documents/d9a67977-865a-40a7-b5a9-1448f51a9a1a.pdf). This new national strategy, which contains 11 recommendations, aims to:
. . .establish a comprehensive framework designed to improve diagnosis, treatment, and support for people living with a rare disease by enhancing quality of life, promoting equitable access to healthcare, and fostering innovation in rare disease research and treatment to create a more inclusive healthcare system that addresses the unique challenges posed by rare diseases.
Additionally, the country’s Department of Health created a rare disease policy unit last year that works in conjunction with Ireland’s publicly funded health care system and its National Rare Diseases Office, as well as other stakeholders, including research and patient advocacy groups.
Rare Disease Resources in Ireland
Below are some of the rare disease research and patient resources available in Ireland:
All-Ireland Rare Disease Interdisciplinary Research Network (RAiN)
https://www.rainrareresearch.org/rare-diseases
The National Rare Diseases Office (NRDO)
https://www.hse.ie/eng/services/list/5/rarediseases/
Rare Diseases Ireland (RDI)
https://www.rainrareresearch.org/rare-diseases
Rare Ireland
University College Dublin School of Medicine’s Academic Centre on Rare Diseases
https://www.ucd.ie/medicine/research/researchcentres/ucdacademiccentreonrarediseases/
Rare Disease Ireland is a patient advocacy national alliance for voluntary groups that is based in Carmichael House, a historic building in Ireland’s capital, Dublin.
University College Dublin’s Centre on Rare Diseases continues to be a significant contributor towards rare disease research in Ireland. Established in 2013, the Centre on Rare Diseases is located within University College Dublin’s School of Medicine, and focuses on improving general rare disease knowledge, along with running clinical trials.
Having learned and visited many of these rare disease organizations in Ireland, CheckRare plans to collaborate with them and raise awareness about the important resources they provide.
To learn more about rare disease advocacy, visit https://checkrare.com/advocacy/
