title: The need for worldwide policy and action plans for rare diseases.
abstract: 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.
authors.affiliation: New Zealand Organisation for Rare Disorders, Wellington, New Zealand. exec.director@nzord.org.nz
authors.forename: John
authors.initials: J
authors.lastname: Forman
authors.forename: Domenica
authors.initials: D
authors.lastname: Taruscio
authors.forename: Virginia A
authors.initials: VA
authors.lastname: Llera
authors.forename: Luis A
authors.initials: LA
authors.lastname: Barrera
authors.forename: Timothy R
authors.initials: TR
authors.lastname: Coté
authors.forename: Catarina
authors.initials: C
authors.lastname: Edfjäll
authors.forename: Désirée
authors.initials: D
authors.lastname: Gavhed
authors.forename: Marlene E
authors.initials: ME
authors.lastname: Haffner
authors.forename: Yukiko
authors.initials: Y
authors.lastname: Nishimura
authors.forename: Manuel
authors.initials: M
authors.lastname: Posada
authors.forename: Erik
authors.initials: E
authors.lastname: Tambuyzer
authors.forename: Stephen C
authors.initials: SC
authors.lastname: Groft
authors.forename: Jan-Inge
authors.initials: JI
authors.lastname: Henter
mesh_terms: D035843:Biomedical Research / Q000941:ethics / Q000331:legislation & jurisprudence; D002986:Clinical Trials as Topic / Q000941:ethics / Q000331:legislation & jurisprudence; D014943:Global Health; D006291:Health Policy / Q000331:legislation & jurisprudence; D006297:Health Services Accessibility / Q000941:ethics / Q000331:legislation & jurisprudence; D006801:Humans; D009965:Orphan Drug Production / Q000941:ethics / Q000331:legislation & jurisprudence; D010344:Patient Advocacy; D028701:Patient Rights; D035583:Rare Diseases / Q000175:diagnosis / Q000628:therapy