To the Editor: The recent conference report by Knight and Taruscio highlights the need for a coordinated effort to fill knowledge gaps and improve service provision for Australians with rare diseases.1 Although, by definition, individual rare diseases occur infrequently, there are about 6000 rare diseases affecting 6%–10% of the population.2,3 This equates to 1.2 million Australians, 30 million people in Europe and 25 million in the United States. By comparison, diabetes affects 1.4 million Australians.4
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- 1 Australian Paediatric Surveillance Unit, The Children’s Hospital at Westmead, Sydney, NSW.
- 2 Discipline of Paediatrics and Child Health, University of Sydney, Sydney, NSW.
Correspondence: apsu@chw.edu.au
- 1. Knight AW, Taruscio D. International conferences on rare diseases: initiatives in commitment, patient care and connections. Med J Aust 2007; 187: 74-76. <MJA full text>
- 2. US Department of Health and Human Services. National Institutes of Health Office of Rare Diseases [website]. http://rarediseases.info.nih.gov/ (accessed Aug 2007).
- 3. European Organisation for Rare Diseases. Rare diseases: understanding this public health priority. Nov 2005. http://www.eurordis.org/IMG/pdf/princeps_document-EN.pdf (accessed Aug 2007).
- 4. Dunstan DW, Zimmet PZ, Welborn TA, et al. The rising prevalence of diabetes and impaired glucose tolerance: the Australian Diabetes, Obesity and Lifestyle Study. Diabetes Care 2002; 25: 829-834.
- 5. Dunkelberg S. A patient’s journey: our special girl. BMJ 2006; 333: 430-431.
- 6. US Department of Health and Human Services. National Institutes of Health. NIH news. National Centre for Research Resources. NIH establishes rare diseases clinical research network. http://www.nih.gov/news/pr/nov2003/ncrr-03.htm (accessed Oct 2007).
- 7. Grenier D, Elliott EJ, Zurynski Y, et al. Beyond counting cases: public health impacts of national paediatric surveillance units. Arch Dis Child 2007; 92: 527-533.
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