Kieran O'Donnell (Limerick City, Fine Gael)

I thank the Deputy for raising this important issue. I am responding on behalf of my colleague, the Minister for Health, Jennifer Carroll MacNeill.

As the Deputy will be aware, Okur-Chung is an ultra-rare neurodevelopmental syndrome with an estimated 160 individuals living with this syndrome globally. Okur-Chung was first identified in 2016 and, as such there is still much we do not know about this syndrome. However, ongoing international research seeks to provide a better understanding of Okur-Chung syndrome and explore possible treatment options.

The recently published national rare disease strategy acknowledges the important role research plays in developing a better understanding of the mechanisms of disease which can enable early diagnosis, earlier treatment and overall better health outcomes for people. Greater knowledge of rare diseases is important for the development of novel therapeutics, treatment strategies and facilitation of more responsive and appropriate services for people living with a rare disease, their families and circle of support. Research is also important for supporting the recruitment, retention and motivation of healthcare personnel who will drive the development of quality services.

Substantial advancements have been made to embed research within Ireland’s healthcare system, and the Department of Health has ensured that research is a key aspect of strategies and frameworks, such as the national rare disease strategy. In Ireland, several organisations have their own specific roles in contributing towards the advancement of rare diseases research.

Organisations such as Health Research Charities Ireland and Taighde Éireann, Research Ireland, have a central role to play in funding and supporting research initiatives related to rare diseases through the provision of grant schemes, co-funding of research projects and programmes and partnerships that prioritise rare diseases.

Research in Ireland is further supported by the involvement of patient advocacy groups such as the Irish Platform for Patients Organisations, Science and Industry, IPPOSI, and Rare Diseases Ireland, RDI, which, through ensuring that research is aligned with patient priorities, advocate and provide a voice for the needs of people with rare diseases and ensure their perspectives are included in research agendas.

Recognising that improved engagement, collaboration and partnership both nationally and internationally with industry, Government, representative organisations, healthcare professionals and academic partners will help to drive strong research and innovation for all aspects of living with rare diseases, the new rare disease strategy recommends that a national rare disease research group be established to provide a structured, co-ordinated, multi-actor and strategic approach to ensuring more high-quality rare diseases research in Ireland. The strategy also recommends that opportunities for rare disease-specific funded research calls, targeting both indigenous research and greater participation in international consortia, be increased, as well as ensuring that healthcare professionals are supported and encouraged to pursue research in rare diseases and provided with the dedicated time to do so.

By streamlining collaboration and establishing stronger relationships between stakeholders through the development of a clear and co-ordinated approach, research efforts can be better integrated into the health system and have greater impact on patient outcomes.

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