Difficulty Finding Information: Rare Disease

Rare Disease Information

Reliable information about rare or genetic diseases is often hard to find. If you cannot find the information you need on our National Rare Diseases Office web site, you can contact the office on 01-854 5065 or via email rare.diseases@mater.ie and our Information Scientists will try to assist.

Orphanetis a reliable source of rare diseases information in Europe – descriptions of conditions, as well as information by country about centres or expertise, support groups and ongoing research activities and it is our main information source on rare diseases. You can learn more about using Orphanet in the Beginners Guide to Orphanet.

The specialist for your rare disease may not be listed in Orphanet. This does not mean that there is no expertise in Ireland for this rare disease – it may mean that the full range of services may not be available or that the service is in the process of being included in Orphanet. Contact us for more information.