What we do

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

Information is provided through this website, through email at: rare.diseases@mater.ie and on the Rare Disease Information line:  Tel 1800 240 365; 01-854 5065

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 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.