Minister for Health publishes the National Rare Disease Strategy 2025-2030

Minister for Health, Jennifer Carroll MacNeill TD, has today launched the National Rare Disease Strategy 2025-2030. This landmark strategy sets out a vision to improve the lives of the estimated 300,000 people living with rare diseases in Ireland.

The Strategy was developed following engagement with a broad range of stakeholders, including patients and families affected by rare diseases.

It outlines a comprehensive framework designed to enhance diagnosis, treatment, and support for people living with rare diseases, aiming to improve quality of life, promote equitable access to healthcare, and foster innovation in rare disease research and treatment.

The strategy contains 11 recommendations to achieve its vision, including:

• Putting people with rare diseases at the centre of service design and delivery
• Establishment of an Implementation Oversight Group
• Expansion of the National Rare Diseases Office
• Establishment of a National Rare Disease Registry, to help improve the planning, coordination, and monitoring of services for people with rare diseases
• Increased international cooperation, particularly through the integration of European Reference Networks (ERNs) into the Irish healthcare service
• Improved care coordination
• Increased education and awareness of rare diseases among health professionals

The Strategy's recommendations also emphasise the importance of developing and enabling earlier diagnosis, integrated care, data and registries, research and innovation, and access to orphan medicines. By addressing these areas, the Strategy aims to create a more inclusive healthcare service that meets the complex needs of people living with rare diseases.

Minister Carroll MacNeill said:

"This Strategy affirms our commitment to improving the lives of the one in 17 people in Ireland living with a rare disease. It has been informed by the views and lived experiences of patients and their families, and designed not just to meet their needs, but to enable better health outcomes through earlier diagnosis, optimal care and support right throughout the life course. I thank them for their time.

“I am determined that in implementing the Strategy, we will continue this strong collaboration, and in this regard I will be establishing a new People Living With Rare Diseases Partnership Advisory Group to ensure that the voices of those most affected are continuously heard.

“I commend everyone involved in bringing us to this point and I look forward to our continued engagement as we work to create a health service that enables everyone with a rare disease to reach their best health potential.

“By working together, we can ensure that every person living with a rare disease in Ireland can live a life of dignity, inclusion, and hope.”

Chair of the National Rare Disease Steering Group Professor Cecily Kelleher said:

"It was my privilege to chair the Steering Group that worked diligently on this Strategy. This is an evidence-based report which drew on the multi-disciplinary expertise of advocates, patient representatives, clinicians, scientists, researchers and policy makers to conduct its work. We had a particular strength in having a specially established consultative forum co-chaired by two of our Steering Group members, to express the voice of experience throughout.

“Our collective efforts have culminated in eleven recommendations that span the life course for those diagnosed with challenging and difficult conditions.

“This Strategy is a testament to the collaborative spirit and determination of all stakeholders involved and it requires strong implementation. This is why the cornerstone of the next phase is the establishment of an Implementation Oversight Group which the Steering Group has recommended to the Minister."

Clinical Lead of the National Rare Diseases Office Dr Atif Awan said:

“The National Rare Disease Strategy 2025-2030 marks a critical step in improving the lives of people living with rare disease in Ireland. The strategy will place patients at the centre of care delivery, invest in research, establish registries and support coordinated care services.

“The strategy lays the ground for real, lasting change. An emphasis on awareness, education, early diagnosis, and innovation will help us deliver more timely, equitable, and effective care. The launch of our Rare Diseases Strategy marks a milestone for the rare disease community—and one we can all be proud to build on.”

Deputy Chief Medical Officer Prof. Ellen Crushell said:

“The launch of this Strategy reflects our commitment to improving supports, care and outcomes for all those living with a rare disease in Ireland. It sets out a clear roadmap for building a more coordinated, person-centred system that recognises the unique challenges faced by people living with rare diseases, their families and their circle of support.

“Crucially, the impact of this Strategy will depend on its effective and sustained implementation over the next five years, ensuring that the commitments contained within are translated into real and meaningful action.”

The National Rare Disease Strategy 2025-2030 is available here.

ENDS

Notes to editor:

The National Rare Disease Strategy was developed as a successor to the National Rare Disease Plan for Ireland 2014 -2018. The new Strategy was informed by a public consultation, a report from the National Rare Disease Patient Forum, a review of Rare Disease Plans internationally, carried out by HIQA, and engagement with a broad range of stakeholders.

The Steering Group which drove the development of the Strategy included patient representatives, patient advocates, clinicians, researchers, representatives from the National Rare Diseases Office, National Genetics and Genomics Office, European Reference Networks, Health Research Board, HSE Child Health Public Health, office of the Chief Clinical Officers and the National Clinical Programme for People with Disability.