What We Do: National Rare Diseases Office
We provide information about genetic and rare diseases. This includes:
- Specific disease information
- Clinical expertise available in Ireland and Europe
- Social care supports
- Patient support groups
- RD research and clinical trials, in Ireland and across Europe
- Irish and European rare disease healthcare policy
Email: rare.diseases@mater.ie
Phone the Rare Disease Information line on 01 854 5065
What is a rare disease?
A ‘rare disease’ is defined in Europe as a life-threatening or chronically debilitating disease affecting no more than 5 people per 10,000. There are more than 6000 known rare diseases affecting up to 6% of the total EU population (at least 30 million Europeans). This means that at any time, approximately 300,000 people in Ireland have a rare disease.
Who can the National Rare Diseases Office help find information?
- People who have rare diseases
- Parents, family members and carers
- Health care providers
- Researchers studying rare diseases
What we cannot do
We cannot diagnose, treat or co-ordinate care for people with rare diseases - our role is limited to help people access reliable rare disease information. Our service is not a substitute for personal clinical advice or the care plan provided by your GP or specialist doctor. We do not offer the following services:
- Operate a rare diseases clinic
- Provide clinical advice or make a diagnosis
- Provide case management for individual cases
- Deal with complaints about specific individuals or services
If you wish to make a complaint see the information in Service Gaps and Complaints If you cannot find the information you are looking for please click Difficulty Finding Information
Information on Rare Cancers and Cystic Fibrosis
Rare cancers, cystic fibrosis and infectious diseases are not covered by the National Rare Diseases office. We can however provide contact details for their respective patient organisations and the HSE programmes responsible for these diseases. Also, you can contact the Irish Cancer Society and Cystic Fibrosis Ireland.
