National Rare Disease Strategy 2025 - 2030
The National Rare Disease Strategy 2025 - 2030 (gov.ie) aims to provide a renewed focus on rare diseases, building on the work of the National Rare Disease Plan for Ireland 2014 - 2018, to meet the needs of people living with rare diseases, their families and healthcare professionals over the next five years.
The vision of this strategy is to ensure that all people living with a rare disease, and their families, have access to equitable, inclusive and cross-sectoral care throughout their life journey that will enable them to reach their full potential and to live their best lives.
The strategy was co-developed with people living with rare diseases, carers, clinicians, healthcare professionals, patient advocates, and researchers. It focuses on four key priorities:
- Earlier and more accurate diagnosis, including expanded newborn screening and better access to genetic services
- Person-centred, integrated care across health and social services, tailored to each person’s journey
- Stronger national and international collaboration, including full integration with all ERNs
- Investment in innovation, research and workforce training to future-proof rare disease care in Ireland
With over 300,000 people in Ireland affected by rare diseases, this strategy is a roadmap for action. It aims to reduce diagnostic delays, improve access to expert care, support mental and social wellbeing, and ensure the rare disease community is a valued and active partner in shaping the services that support them.
Training and Education
ERNs offer a variety of training and education opportunities for healthcare professionals to improve care for rare disease patients.
More information on training and education opportunities may be available through each individual ERN website.
Training and education opportunities are delivered through a number of online platforms including webinars, knowledge exchanges, on-site training and the ERN Academy and specific ERN Programmes.
- The ERN Exchange Programme
Learn about the ERN Exchange Programme (video)and hear from medical professionals who took part in the programme, who share their experiences, and describe how Exchanges contribute to enhancing access to high quality care for patients with rare diseases and complex disorders in EU Member States.
Other opportunities include the following:
- ERN-LUNG Academy:A curriculum for medical staff on rare respiratory diseases, including webinars, eCases, and on-site training.
- ERN eUROGEN's Webinar Programme:Offers CME-accredited webinars on urogenital diseases, collaborating with other ERNs and patient representatives.
- ERN-RND:Provides webinars on rare neurological diseases in collaboration with EURO-NMD and the European Academy of Neurology (EAN).
- ERKNet Clinical Exchange Programme: This programme is intended to share knowledge and promote collaboration between young health care professionals within ERKNet.
- EJP RD Funded ERN Training Workshops (ejprarediseases.org): Focus on innovative research methodologies and in
- ERN Academy (academy.europa.eu): An online platform with educational resources developed by EU institutions, including training on the development of clinical practice guidelines
On the JARDIN website you will find the ERN Resource Kit (jardin-ern.ru), which provides recently published EC booklets and fact sheets about ERNs.
Referring to an ERN
The doctor must be part of an ERN or work in collaboration with a healthcare provider that is a member to refer a patient to an ERN. They can upload anonymised patient data, with the patient’s permission, to the secure online platform, the Clinical Patient Management System (CPMS) to seek advice from other experts in the network. This supports multidisciplinary care planning, ensuring that patients benefit from the best available knowledge without the need to travel abroad. This is not a consultation service for patients to access directly, but for clinical experts to discuss the patient’s care.
ERN Service Directory
Education for Healthcare Professionals National Rare Diseases Office
ERNs offer a variety of training and education opportunities for healthcare professionals to improve care for rare disease patients.
More information on training and education opportunities may be available through each individual ERN website.
Training and education opportunities are delivered through a number of online platforms including webinars, knowledge exchanges, on-site training and the ERN Academy and specific ERN Programmes.
Prof Sally Ann Lynch has produced two additional short animations Understanding Copy Number Variations and Variant of Unknown Significance (VUS)
Gen Equip Project - The aim is to enable health professionals who are working in primary care to update their knowledge and skills in genetics with education including case-based modules, free of charge to health professionals who want continuing medical or professional education in genetics available at www.primarycaregenetics.org
Medics4RareDiseases is a not-for profit organisation based in the UK that is driving an attitude change to rare diseases among medical students and doctors in training. We're doing this to improve the journey through healthcare for those living with rare diseases and their families.
Rare Disease: The GP's role (video)
Rare Disease: A family's journey (video)
Rare Disease: The power of a genetic diagnosis (video)
