Department publishes 2024-25 Progress Report on the Northern Ireland Rare Diseases Action Plan

Date published: 16 December 2025

The Northern Ireland Rare Diseases Action Plan is now in its fourth year, having been first published in March 2022 by the former Health Minister, Robin Swann. Publication of the Year three Progress Report details the progress made against the Action Plan in 2024-25 by the Northern Ireland Rare Diseases Implementation Group (NIRDIG), chaired by Professor Ian Young, Chief Scientific Adviser for Northern Ireland.

Each UK country has developed a nation-specific Action Plan to implement the UK Rare Diseases Framework, which aims to improve the lives of people living with rare diseases. It identifies four priority areas for action:

• Faster diagnosis;
• Increased awareness of rare diseases amongst healthcare professionals;
• Better coordination of care;
• Improved access to specialist care, treatment and drugs.

Welcoming the Progress Report, Minister Nesbitt said: 

“Individually rare, but collectively common, rare conditions affect 1 in 17 of the population, which in Northern Ireland is over 111,000 people. Our Rare Diseases Action Plan was developed to address shared challenges identified by those living with a rare disease in Northern Ireland and work has been ongoing during the last three years to make progress against these actions. I am delighted to publish the Year Three Progress Report today, which outlines the continued efforts and firm progress that is being made across the actions within the NI Rare Disease Action Plan, and I would like to commend all stakeholders who have played such an important role in this progress.

“Knowing the impact that a rare condition has not only on the individual, but on their family and friends, I particularly welcome the recent launch of the Caring With Rare online resource to support the carers of people living with a rare condition. This online support tool has been developed by Queen’s University Belfast, with funding from the Medical Research Council, and with the support of my Department and the NI Health and Social Care Research and Development Office and demonstrates further progress on implementation of the NI Rare Diseases Action Plan.”

The Northern Ireland Rare Diseases Action Plan sets out 14 high level actions aligned with the four priority areas of the Framework, developed by NIRDIG and informed by stakeholder events and input from the rare disease community and the Northern Ireland Rare Disease Partnership. Key areas of progress over the Action Plan’s third year include:

• £12M investment from LifeArc to establish a LifeArc Centre for Acceleration of Rare Disease Trials that will improve access to specialist care, diagnosis and treatments, and increasing participation in rare disease research;
• Improved access to rare disease specialists and care/treatments through the development of rare disease clinical pathways;
• A dedicated mavacamten clinical service for the treatment of symptomatic obstructive hypertrophic cardiomyopathy, as well as approval to deliver NICE-approved treatment for sapropterin, for people with phenylketonuria (PKU);
• Collaboration with the Northern Ireland Education Authority on rare disease awareness sessions for schools, and the development of a Rare Disease Education Toolkit;
• Establishment of a doctoral training program for rare diseases, helping to train the next generation of scientists, data analysts, and healthcare professionals;
• A series of engagement and consultation events across Northern Ireland that have reinforced the importance of community engagement, as well as informing future iterations of the Rare Disease Action Plan.

Professor Ian Young, Chair of the NIRDIG said: 

“Despite the very challenging financial constraints facing the Health and Social Care system, much has been achieved through collaboration and leadership within and across the five NIRDIG Working Groups. There is still much more to do and a great deal of learning that can be gleaned from progress to date. As we continue our work during 2025-26 and beyond, we must continue to deliver together, building on the firm foundations that have been set.

“I want to thank the NI Rare Disease Partnership, Queen's University Belfast, Ulster University, and all other colleagues, stakeholders and organisations who continue to provide invaluable assistance since the inception of the Action Plan.”