With Ireland’s National Rare Disease Strategy 2025-2030 launched last year, and the Implementation Oversight Group (IOG) responsible for monitoring its progress and delivery now established, activities to support rare diseases are expected to increase. International Rare Disease Day provides a timely opportunity to reflect on the progress made to date — supported by the HRB, which makes a meaningful difference to people living with a rare disease in Ireland.

Ireland’s Rare Disease Strategy 

The new strategy contains 11 key recommendations to improve diagnostics, clinical management and supports, with a dedicated research chapter. This outlines the critical importance of research, with international collaboration recognised as central for progress. This is because while rare diseases are collectively common, national incidences of any rare disease can be low, often a single case.

Rare Disease Research Catalyst Consortium (RDCat)  

The HRB-funded RDCat works with international partners to advance rare disease research. It is hosted at UCD and supports a consortium of healthcare workers, researchers and patient organisations collaborating across three universities and five hospitals. People living with a rare disease play a vital role in RDCat by sharing lived experience and identifying priority areas for improvement.

RDCat has formed a new Rare Disease Irish Patient Advisory Group (IPAG) which takes part in Patient Centred Outcome Measures research, policy advocacy and dissemination of complex clinical information for lay audiences.

RDCat has also enabled impactful partnership with EURORDIS — a non-profit alliance of over 1,000 rare disease patient organisations from 77 countries — to collaborate on a Patient Reported Experience project. This has resulted in a new tool being designed and validated in Ireland by people living with a rare disease. It will be used by patients throughout Europe to describe their clinical experiences and identify areas for improvement.

Education and training 

Through HRB support, RDCat provides training for future clinicians and researchers in rare disease research. It has funded four fellowships in partnership with the National Institute of Health Rare Disease Scholars Programme. Two fellows are now in place working in rare respiratory diseases and hereditary neurologic disorders. A postgraduate masterclass in rare diseases is also under development.

Rare Disease Clinical Trial Network (RDCTN) 

The RDCTN works to increase rare diseases clinical trial activity in Ireland. Through collaboration with patients, researchers and industry, this HRB-funded initiative supports development of rare disease clinical trials, trial methodology and researcher training.

We host an annual conference enabling researchers to present their research from countries with lower levels of rare disease research activity to further enhance and support international collaboration.

European engagement: 

European Reference Network (ERN) Registries 

Ireland has joined 18 of 24 ERNs. These cross-border networks bring European experts together to tackle rare diseases. Each ERN registry captures data on people living with a rare disease. Five RDCat-funded research co-ordinators enrol consented patients onto these registries. One in 20 patients enrolled on the European rare kidney disease registry is from Ireland because of this initiative. The rare bone and endocrine registries also include patients from Ireland. This means people living with a rare disease in Ireland could be identified for participation and inclusion in international research initiatives such as clinical trials.

Diagnosis 

Critically, RDCat has enabled researchers in Ireland to submit genetic samples to the European Rare Disease Research Alliance (ERDERA) for undiagnosed patients. 189 chronic kidney disease cases and 10 cases with epilepsy of unknown diagnosis have already had data submitted with more due for submission. This enables international expert review and potential for diagnosis.

An RDCat pilot project last year involving 30 patients with ‘undiagnosed’ rare kidney disease utilised enhanced genomics testing to achieve a diagnosis for seven patients.

Looking ahead 

As we look ahead to the next five years of Ireland’s new Rare Disease Strategy 2025-2030, the signs of progress are already clear. With sustained support from the HRB and continued collaboration at national and international level, people living with a rare disease are experiencing meaningful and positive impacts on their lives through diagnosis, greater patient involvement, enhanced advocacy and expanding clinical trial activity across Ireland and beyond. Together these efforts position us to deliver lasting change and improved outcomes for the rare disease community into the future.

Notes for editors 

  • International Rare Disease Day is a global initiative observed annually, on the last day of February. The date was chosen because February 29 in a leap year is the rarest date on the calendar.
  • It is estimated that 1 in 17 people globally are affected by a rare disease, with approximately 300,000 people living with a rare disease in Ireland.
  • There are over 8,000 known rare diseases with many more yet to be identified. Therefore, rare disease research is critical to enable earlier diagnosis, unique care and treatment approaches
  • ERDERA, the European Rare Disease Research Alliance is a European partnership uniting 37 countries and over 170 organisations in a single goal: turning cutting edge science into tangible benefits for the 30 million Europeans living with a rare disease. For more information on ERDERA visit https://erdera.org ERDERA fosters international collaboration via Joint Transactional Calls (JTCs). These require applications to be made by a consortium of researchers based across European countries and beyond to ensure scientific innovation can advance more efficiently and reach those who need them most. Throughout its lifetime, ERDERA will launch seven joint transnational calls co-funded by the European Commission and partners including the HRB. For further information on the current JTC 2026 see here:  ERDERA JTC 2026 HRB