Resources for Patients

Rare diseases are characterised by a broad diversity of disorders and symptoms that vary not only from disease to disease, but also among patients affected by the same disease. Relatively common symptoms can hide underlying rare diseases, leading to misdiagnosis.

Characteristics of 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. See More

xxxxxx

Courtesy: © European Union, 2017   /   Source: EC – Audiovisual Service

European Reference Networks

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.

The first 24 ERNs were launched on March 1, 2017, involving more than 900 highly-specialised healthcare units from over 300 hospitals in 26 Member States.

ERN FlyerDetailed ERN BrochureSummary - structure and goals of each ERN

Rare Diseases in Ireland

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

xxxxxx