With a new Rare Disease Strategy for Ireland due to be published soon, International Rare Disease Day is a timely opportunity to reflect on the vital role of research in improving the lives of people living with rare diseases and on HRB’s investments and support to advance research through national and international collaboration.

To date, the HRB has invested €18.8 million to support rare disease research collaboration at national and international level.

Participation in the European Rare Diseases Alliance 2024

In January 2024, the European Commission approved €56 million over seven years for the European Rare Diseases Research Alliance (ERDERA). The HRB and Irish stakeholders are participating alongside 180 partners from 36 countries.

ERDERA aims to deliver a rare diseases research ecosystem supporting the development of new diagnostic methods and pathways, spearheading digital transformation, and connecting the dots between care, patient data and research.

The initiative fosters collaboration by funding Joint Transnational Calls (JTC) with support from partners such as the HRB. Applications must come from consortiums across Europe and beyond. Throughout its lifetime, ERDERA will launch seven joint transnational calls. For further information on JTC 2025, see: ERDERA JTC 2025

Because some diseases are so rare and their incidence in any given country so low, contributing Irish-based research and knowledge to international initiatives is vital to harnessing understandings that advance care and treatments. The HRB has supported and participated in several partnerships to advance that aim.

Ireland’s Rare Disease National Mirror Group

The HRB along with national stakeholders established the Rare Disease National Mirror Group (NMG) in September 2024 as part of Ireland’s commitment to ERDERA. The NMG operates as a central body to link national stakeholders and to support alignment of activities with European rare disease research initiatives. Stakeholders include: healthcare providers, funders, researchers, patient advocacy groups.

Research and Innovation Catalyst Awards (RDCat)

This award brings all relevant stakeholders together in a three-year investment worth €3 million. The consortium, led by Prof Rachel Crowley from UCD, connects Irish-based researchers, clinicians, and patient advocates with international networks to strengthen rare disease research. Activities include enabling the use of European Reference Network disease registries, rare disease researcher training, increasing the influence of rare disease patients in research and developing research pathways for undiagnosed patients under the upcoming ERDERA partnership programme.

Rare Diseases Clinical Trials Network (RDCTN)

The RDCTN acts as a collaborative hub for trials in rare diseases, investing €1 million over five years to increase opportunities for patients to access high-quality clinical trials. Co-led by Professors Rachel Crowley and Cormac McCarthy, hosted at University College Dublin, this HRB-funded initiative addresses the challenges of conducting rare disease clinical trials in Ireland by supporting education and training, regulatory frameworks, public and patient involvement and industry engagement.

Joint funding with charities

Our partnership with Health Research Charities Ireland (HRCI) funds innovative research in many areas relevant to HRCI-members and has proven to be an important funding avenue for rare disease research, accounting for approximately €7m of the HRB spend on rare diseases in the last 10 years. Separately, the HRB supports a selection of research career awards, EU research projects and the Irish Platform for Patient Organisations, Science and Industry (IPPOSI).

National Rare Diseases Steering Group

At national level, we were involved in the National Rare Disease Steering Group working on the National Rare Diseases Strategy. Due for publication next month, it is a five-year plan to provide people with rare diseases and their families care, services, and supports. Rare disease research also forms a key part of the strategy.

The HRB has played a significant role in supporting rare disease research to date, and we look forward to the next chapter with greater national and international collaboration and co-ordination of research to ensure faster scientific progress with improved use and sharing of data and resources.

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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 sufferers in Ireland.

There are over 8,000 known rare diseases with many more yet to be identified. Therefore, rare disease research is critical to earlier diagnosis, unique care and treatment approaches.