Northern Ireland Rare Disease Action Plan Progress Report Update 1st April 2023 - 31st March 2024
The power of partnership and collaboration...
This report provides an overview of progress throughout year 2 of the of the Northern Ireland Rare Disease Action Plan led by the Northern Ireland Rare Disease Implementation Group.
We are delighted to have contributed with colleagues in this collaborative endeavour - a testament to everyone's commitment, especially in the absence of substantive funding. Progress includes:
- The development of Rare Disease Care Pathways including: Inherited Cardiac Conditions, Inherited Metabolic Disorders, Immunology, Haematology, Red Cell Disorders, and Cystic Fibrosis.
- Supporting diagnosis by additional genome sequencing and multiomic analysis of people living with a rare condition.
- Multiple successful research bids: Funding has been allocated to develop an online support tool for carers of people living with a rare condition. Funding was also provided to create a Rare Diseases Northern Ireland online resource that will bring together a host of resources and information on rare diseases. Research bids were also made to LifeArc, a medical research charity specialising in the translation of life sciences research to clinical care.
- The appointment of two HSC Specialist Services Managers to support the ongoing work of the HSC Rare Disease Adult and Paediatric Clinical Leads.
- The launch of a Rare Diseases Patient & Carer Survey to collect information on attitudes to, and experiences of, rare disease research.
Keep an eye out for all these exciting initiatives.
AJ McKnight
AJ McKnight, Centre for Public Health
Media
Please do contact our rare disease team by email for further information.