The Chief Medical Officer has highlighted the common problems shared by people living with rare diseases.
In his annual report for 2009, Sir Liam Donaldson recommends a series of actions to help support the estimated 3.5million people in the UK who are affected.
Rare diseases are defined as conditions which affect fewer than 1 in 2000.
80% of them are thought to have a genetic origin.
Sir Liam highlights the difficulties families face in getting a diagnosis, accessing specialist services and the lack of expert support in the transition into adulthood.
"There is a lack of focus in service, an absence of coordinated care and a paucity of research to improve the quality of life of those with rare diseases, and of their relatives.
Sir Liam Donaldson, Chief Medical Officer
Sir Liam's recommendations
- Strengthen the network of reference centres for rare diseases to improve coordination of services
- Make sure adequate numbers of specialists are trained so that future service needs can be met
- Appoint a National Clinical Director for rare diseases to oversee the development of clear standards and pathways of treatment and surveillance
- Strengthen research with economic incentives to develop and market medicines
- Raise public and professional awareness of rare diseases
- Support international collaborative efforts to share information and resources
To read the report in full, visit the Department of Health website.