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The need for worldwide policy and action plans for rare diseases
Author(s) -
Forman John,
Taruscio Domenica,
Llera Virginia A.,
Barrera Luis A.,
Coté Timothy R.,
Edfjäll Catarina,
Gavhed Désirée,
Haffner Marlene E.,
Nishimura Yukiko,
Posada Manuel,
Tambuyzer Erik,
Groft Stephen C.,
Henter JanInge
Publication year - 2012
Publication title -
acta paediatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.2012.02705.x
Subject(s) - medicine , psychological intervention , intensive care medicine , resource (disambiguation) , action (physics) , risk analysis (engineering) , health care , developing country , clinical trial , limited resources , economic growth , psychiatry , pathology , computer science , computer network , physics , quantum mechanics , economics
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.