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International conferences on rare diseases: initiatives in commitment, patient care and connections

Yvonne A Zurynski, Katie N Reeve and Elizabeth J Elliott
Med J Aust 2007; 187 (10): 597.

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

Yvonne A Zurynski, Assistant Director1
Katie N Reeve, Research Officer1
Elizabeth J Elliott, Director,1 and NHMRC Practitioner Fellow and Professor2
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.
Article References: 
Reference Text: 
Knight AW, Taruscio D. International conferences on rare diseases: initiatives in commitment, patient care and connections. Med J Aust 2007; 187: 74-76.
Reference Order: 
1
PubMed ID: 
17635086
Reference Text: 
US Department of Health and Human Services. National Institutes of Health Office of Rare Diseases [website]. http://rarediseases.info.nih.gov/ (accessed Aug 2007).
Reference Order: 
2
PubMed ID: 
Reference Text: 
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).
Reference Order: 
3
PubMed ID: 
Reference Text: 
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.
Reference Order: 
4
PubMed ID: 
11978676
Reference Text: 
Dunkelberg S. A patient’s journey: our special girl. BMJ 2006; 333: 430-431.
Reference Order: 
5
PubMed ID: 
16931841
Reference Text: 
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).
Reference Order: 
6
PubMed ID: 
Reference Text: 
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.
Reference Order: 
7
PubMed ID: 
17158859

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