The National Rare Diseases Office, currently based in the Mater Misericordiae University Hospital, Eccles St, Dublin 7, is the co-ordination ‘hub’ for clinical rare diseases expertise in Ireland. The office was established in 2015 and is staffed by healthcare professionals who have significant experience working with people affected by rare diseases. It provides current, reliable information about genetic and rare diseases to patients, families and health and research professionals, The office also manages the Irish section of Orphanet, the European portal on rare diseases information and orphan drugs.

The Office is responsible for mapping the location and availability of clinical expertise and centres of expertise in Ireland. Over 75 Irish centres have been mapped and listed on Orphanet. The Office provides information about virtual cross-border consultations and centres of expertise in neighbouring EU Member States.

The National Rare Disease Office has also developed a series of educational videos for GPs and members of the public, which are available on its website.

European Reference Networks are networks for clinicians and researchers to share expertise, knowledge and resources on rare diseases across the EU. In the first phase (March 1, 2017), over 900 healthcare units from nearly all EU Member States came together in 24 thematic networks. They cover a wide range of conditions, from bone disorders to blood diseases, from childhood cancer to immunodeficiency. They facilitate access to diagnosis, treatment and provision of affordable, high-quality and cost-effective healthcare for all citizens of the EU.

Due to the low prevalence and complexity of rare diseases, as well as to the nature of small and scattered patient populations, the system of ERNs that has been established can bring real added value to rare disease patients. By ensuring doctors have the most recent and expert knowledge possible, they will be better informed to make decisions on how to adapt treatment and care pathways. This in turn contributes to improvements in clinical outcomes and the quality of life of people living with a rare disease.

With knowledge and resources on specific rare conditions scattered across individual countries connecting the dots and bringing together expertise and maximising synergies between centres of excellence across Europe is critical. No country alone has the knowledge and capacity to treat all rare and complex conditions, but by cooperating and exchanging life-saving knowledge at a European level through ERNs, patients across the EU now have access to the best expertise available.

A call for applications to join the European Reference Networks is expected to be issued in 2019. It is anticipated that many Irish Health Care Providers will use this opportunity to join ERNs. A few key items worth noting are:

1. HCPs must be registered on Orphanet if they wish to become involved in an ERN.
2. Individual HCPs need to contact the National Clinical Programme for Rare Disease to express interest in ERN involvement. (Contact the clinical programme directly at clinicalprogrammeadmin@rcpi.ie.)
3. Ireland will have one designated HCP for each ERN. All associated HCPs will network through this designated HCP.
4. Future EU research funding will be linked to ERN involvement.

Rare diseases can be chronic, progressive, degenerative, and often life-threatening. Rare diseases disable patients as their quality of life can be compromised by the lack or loss of autonomy.

The total number of persons in Europe suffering with rare diseases is estimated at over 30 million (6% to 8 % of the European population), which equates to more than 280,000 people in Ireland living with a rare disease. See More