Health Minister Welcomes Progress Of Rare Diseases Action Plan

Health Minister Mike Nesbitt has welcomed the progress that has been made to date on the Northern Ireland Rare Diseases Action Plan.

Welcoming the publication of the latest report of the Northern Ireland Rare Diseases Implementation Group (NIRDIG), 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."

Professor Ian Young, Chair of the NIRDIG, 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 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.