Northern Ireland Rare Diseases Action Plan latest progress report published

Health Minister Mike Nesbitt has welcomed the progress that has been achieved against the Northern Ireland Rare Diseases Action Plan in 2023/24.

Minister Nesbitt, said: “We know the far-reaching impacts that rare diseases have on individuals and their families and it’s imperative that we do what we can to bring about improvements.

 “I am pleased to see the progress that has been achieved in 2023/24, particularly in relation to the advanced work on genome sequencing and the research funding which has been secured.

 “I want to commend all those who have contributed to this important work and look forward to seeing further progress over the next year.”

 The report details the progress made by the Northern Ireland Rare Diseases Implementation Group (NIRDIG), chaired by Professor Ian Young.

 Professor Ian Young, said: “The Year 2 Progress Report demonstrates that there is a great deal to be proud of and, whilst there is still much to do, I want to sincerely thank NIRDIG, the Northern Ireland Rare Diseases Partnership and the members of the working groups for their ongoing drive and commitment to implementation of the Action Plan to improve the lives of people living with a rare disease.”

 Key areas of progress over the Action Plan’s second year include:

• Progression of Rare Disease Care Pathway development for several paediatric and adult services, including: Inherited Cardiac Conditions (ICC), Inherited Metabolic Disorders (IMD), Immunology, Haematology, Red Cell Disorders (RCD), and Cystic Fibrosis (CF).
• Additional genome sequencing of people living with a rare condition in Northern Ireland who do not yet have a diagnosis.
• Research Bid Success: A number of important bids to external research organisations came into fruition during 2023/24.
• The establishment of a Rare Disease Society at Ulster University’s School of Medicine.
• Development of a database of online educational rare disease resources for Ulster University students.
• The appointment of two HSC Specialist Services Managers to support the ongoing work of the HSC Rare Disease Clinical Leads.
• Launch of a Rare Diseases Patient & Carer Survey to collect information on attitudes to, and experiences of, rare disease research.

Notes to editors: 

1. The UK Rare Diseases Framework (external link opens in a new window / tab), signed and agreed by all four nations of the UK, builds upon the successes of the previous strategy and was developed in consultation with those living with rare diseases following the National Conversation on Rare Diseases: https://assets.publishing.service.gov.uk/government/uploads/system/uploads/attachment_data/file/950651/the-UK-rare-diseases-framework.pdf

2. The Northern Ireland Rare Diseases Action Plan was published by former Minister Swann in March 2022, setting out 14 high level actions for 2022-23, informed by the rare disease community in Northern Ireland: https://www.health-ni.gov.uk/sites/default/files/publications/health/doh-ni-rare-diseases-action-plan-2223.pdf
3. Progress Reports: Northern Ireland Rare Diseases - Action Plan 2022/23 and reports
4. For media enquiries please contact the DoH Press Office by email pressoffice@health-ni.gov.uk.
5. Follow us on X @healthdpt(external link opens in a new window / tab) and linkedIn Department of Health NI | LinkedIn(external link opens in a new window / tab)
6. The Executive Information Service operates an out of hours service For Media Enquiries Only between 1800hrs and 0800hrs Monday to Friday and at weekends and public holidays. The duty press officer can be contacted on 028 9037 8110.

Share this page