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Forman J, Taruscio D, Llera VA, et al. The need for worldwide policy and action plans for rare diseases. Acta Paediatr. 2012;101(8):805-7doi: 10.1111/j.1651-2227.2012.02705.x.
Forman, J., Taruscio, D., Llera, V. A., Barrera, L. A., Coté, T. R., Edfjäll, C., Gavhed, D., Haffner, M. E., Nishimura, Y., Posada, M., Tambuyzer, E., Groft, S. C., Henter, J. I. (2012). The need for worldwide policy and action plans for rare diseases. Acta paediatrica (Oslo, Norway : 1992), 101(8), 805-7. https://doi.org/10.1111/j.1651-2227.2012.02705.x
Forman, John, et al. "The need for worldwide policy and action plans for rare diseases." Acta paediatrica (Oslo, Norway : 1992) vol. 101,8 (2012): 805-7. doi: https://doi.org/10.1111/j.1651-2227.2012.02705.x
Forman J, Taruscio D, Llera VA, Barrera LA, Coté TR, Edfjäll C, Gavhed D, Haffner ME, Nishimura Y, Posada M, Tambuyzer E, Groft SC, Henter JI. The need for worldwide policy and action plans for rare diseases. Acta Paediatr. 2012 Aug;101(8):805-7. doi: 10.1111/j.1651-2227.2012.02705.x. Epub 2012 May 11. PMID: 22519914; PMCID: PMC3443385.
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Acta Paediatr. 2012 Aug;101(8):805-7. doi: 10.1111/j.1651-2227.2012.02705.x. Epub 2012 May 11.

The need for worldwide policy and action plans for rare diseases.

Acta paediatrica (Oslo, Norway : 1992)

John Forman, Domenica Taruscio, Virginia A Llera, Luis A Barrera, Timothy R Coté, Catarina Edfjäll, Désirée Gavhed, Marlene E Haffner, Yukiko Nishimura, Manuel Posada, Erik Tambuyzer, Stephen C Groft, Jan-Inge Henter,

Affiliations

  1. New Zealand Organisation for Rare Disorders, Wellington, New Zealand. [email protected]

PMID: 22519914 PMCID: PMC3443385 DOI: 10.1111/j.1651-2227.2012.02705.x

Abstract

UNLABELLED: There are more than 6000 rare diseases (defined as affecting <5/10 000 individuals in Europe, <200 000 people in the United States). The rarity can create problems including: difficulties in obtaining timely, accurate diagnoses; lack of experienced healthcare providers; useful, reliable and timely information may be hard to find; research activities are less common; developing new medicines may not be economically feasible; treatments are sometimes very expensive; and in developing countries, the problems are compounded by other resource limitations. Emphasis is required to support appropriate research and development leading to better prevention, diagnosis and treatments of rare diseases. Notably, clinical trials using already existing drugs may result in new, affordable, treatment strategies. Moreover, rare diseases may teach us about common disorders.

CONCLUSIONS: Countries are encouraged to implement specific research and development activities within their individual capabilities, so that patients worldwide have equal access to necessary interventions to maximize the potential of every individual.

© 2012 The Author(s)/Acta Paediatrica © 2012 Foundation Acta Paediatrica.

References

  1. J Intern Med. 2006 Jul;260(1):1-10 - PubMed
  2. Nat Immunol. 2004 Jan;5(1):23-30 - PubMed
  3. Semin Hematol. 2009 Jan;46(1):52-63 - PubMed
  4. Lancet. 2010 Dec 18;376(9758):2116 - PubMed
  5. Nat Rev Drug Discov. 2002 Oct;1(10):821-5 - PubMed
  6. Lancet. 2008 Jun 14;371(9629):2048-51 - PubMed

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