A new national plan which aims to help those affected by rare diseases is to be developed, the Minister for Health has confirmed.

One in 15 people will live with a rare disease at some point in their life. According to Minister Stephen Donnelly, improving and expanding the care and treatment of affected patients is a priority for the Government and this work is being spearheaded by the HSE National Clinical Programme for Rare Diseases.

Funding for new innovative medicines for rare diseases has been increased over the last three years and over 100 new medicines have been approved during this time, including 34 orphan medicines to treat rare diseases.

“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,” he explained.

This strategy outlines Ireland’s vision for a national genetics and genomics service, focusing on equity of access and enhanced patient outcomes. It is envisaged that this service will cover the patient lifespan and be available across the country’s regional health areas.

As part of this strategy, close links have already been developed with EU partners and last year, the HSE was nominated as the national competent authority in an EU Joint Action of European Reference Networks for Rare Diseases. This enables greater coordination and sharing of best practices in key areas such as genetic testing.

“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 are 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,” commented the Department of Health’s chief medical officer, Prof Breda Smyth.

The announcement about the new national plan was made to coincide with Rare Disease Day 2023 (February 28).