The National Rare Disease Plan for Ireland 2014-2016 was launched in July 2014. One of the key recommendations of this plan was the establishment of a National Rare Diseases Office. This office was officially launched by Minister for Health, Leo Varadkar (pictured below at the launch) on Thursday, June 4.
The office is located at the Mater Misericordiae University Hospital. A Patient Information Booth providing rare disease leaflets and a dedicated rare disease search computer portal is now available on site at Mater Hospital Eccles St entrance.
The principle functions of the National Rare Diseases Office include:
- Identification of expertise in rare diseases to include information about locations of medical and multi-disciplinary assessment and management, in addition to research, genetic testing and psychosocial care
- A helpline for patients and clinicians to provide information about rare disease or the disease related topic
- Future co-ordination of and development of rare disease registries
- The establishment of Orphanet, the European rare disease portal
Orphanet Ireland is now live here. The helpline for patients and clinicians – to provide information about rare diseases – is expected to be operational this autumn.