CMO speaks out on rare disease

p.The Alliance is delighted that Sir Liam Donaldson has taken the opportunity of his last annual report as Chief Medical Officer to highlight the importance of rare diseases both in terms of their frequent severity and the cumulatively large number of people affected. Sir Liam’s recommendations chime with the Alliance’s call to renew and reinvigorate the Carter reforms, proposing to:

  • Strengthen the network of reference centres for rare diseases to enable better coordination of specialist services, including the transition from paediatric to adult services.
  • Ensure that 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 for the treatment and surveillance of rare diseases, with national registers to support service planning and delivery as well as research.
  • Strengthen research, including translational research with economic incentives, to develop and market medicines for the ‘orphan diseases’.
  • Raise public and professional awareness of this neglected group of diseases.
  • Support international collaborative efforts to share information and resources for rare diseases.