The National Rare Disease Information Service provides current and evidenced based information on rare conditions and signposts to available rare disease expertise, supports and resources.
The information service assists:
- People who are affected by a rare or genetic condition, or an undiagnosed, likely rare condition (Syndrome Without a Name)
- Parents, family members and carers of someone with a rare or genetic condition
- Rare Disease patient organisations
- Doctors, nurses, genetic counsellors, social workers and other health care professionals who work with people with rare or genetic conditions
- Scientists who are studying rare or genetic and need information for their research or for people taking part in studies
- Policy-makers and other government agencies
National Rare Diseases Information Service email rare.diseases@mater.ie
Rare Disease Care Pathways
The National Rare Diseases Office has developed a series of integrated care pathways for rare conditions. These care pathways are based on clinical practice guidelines and developed in collaboration with national clinical experts and Irish patient organisations. Care Pathway development includes mapping of national multidisciplinary RD expert centers as well as the Orphanet diseases definition and codes.
List of approved rare disease care pathways
