Call for a national plan for rare diseases

Adam Jaffe, Yvonne Zurynski, Lyndall Beville, Elizabeth Elliott*

*Corresponding author for this work

Research output: Contribution to journalShort surveypeer-review

44 Citations (Scopus)


Australia requires a national plan, similar to plans developed internationally, to address the impacts of rare diseases on individuals, the community and health services. Rare diseases often present in childhood, many are chronic, some life threatening and others associated with significant disability. However, diagnosis is often delayed, because of lack of knowledge and experience of health professionals and uncertainty about where to refer. Specialised health services are frequently lacking and specific therapies are often not available, partly because of lack of research funding directed towards rare diseases. A national plan would facilitate a coordinated response to service development, carer support, and health professional and community education, and would promote research and advocacy for affected children and their families.

Original languageEnglish
Pages (from-to)2-4
Number of pages3
JournalJournal of Paediatrics and Child Health
Issue number1-2
Publication statusPublished - 1 Jan 2010
Externally publishedYes


  • Disease burden
  • Orphan drugs
  • Rare diseases


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