The Department of Health is to develop a new National Rare Disease Plan


Health Minister, Stephen Donnelly said improving and expanding the care and treatment of patients with rare diseases was a priority for the Government, with work spearheaded by the HSE National Clinical Programme for Rare Diseases.

He said the Government had also substantially increased funding for new innovative medicines for rare diseases, investing €100 million over the last three Budgets.

During this time, more than 100 new medicines had been approved, including 34 orphan medicines to treat rare diseases. 

This year, the Government has committed €2.7 million to support the implementation of this Strategy.

Minister Donnelly said: 

“I understand that patients living with rare diseases and their families face huge challenges in managing and treating their conditions, and these challenges are heightened by the lack of information and research into these diseases.

“As a health service, we are working to change this. Personalised treatments will help transform healthcare provision in Ireland, and this vision has already been laid out with the recent launch of the National Strategy for Accelerating Genetic and Genomic Medicine in Ireland.”

Close links have already been developed with EU partners. Last year the HSE was nominated as the National Competent Authority in an EU Joint Action of European Reference Networks for Rare Diseases, which enables greater coordination and sharing of best practices in key areas such as genetic testing.

Highlighting the importance of this EU-wide approach, the Chief Medical Officer Professor Breda Smyth said:

“This collaboration has allowed us to enter into 18 European Reference Networks (ERNs) on Rare Diseases. These ERNs include representation from five academic hospitals and three universities and is coordinated by the National Rare Disease Office. 

This represents a significant achievement by the health service, to drive innovation, training and clinical research for highly specialised care.” 

  • 1 in 15 people live with a rare disease at some point in their life. 
  • Rare Disease Day aims to build awareness of rare diseases and the need for increased expertise and knowledge to help improve treatments.
  • The National Strategy for Accelerating Genetic and Genomic Medicine outlines Ireland’s vision for a national genetics and genomics service, a patient and family-centred service, through its focus on equity of access and enhanced patient outcomes. This service will cover the patient lifespan and be available across the Regional Health Areas. It will be supported by a strong governance system, skilled workforce, innovative research and trusted partnerships. 
  • The HSE National Clinical Programme for Rare Diseases was established in 2013 and the National Rare Disease Office was established by the HSE in 2015. The purpose of the National Rare Disease Office is to provide current and reliable information about genetic and rare diseases to patients, families and healthcare professionals.