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Ann T Gregory
Med J Aust 2010; 193 (6): . || doi: 10.5694/j.1326-5377.2010.tb03952.x
Published online: 20 September 2010

Like the open-source software community, an open-science community for rare diseases is needed, say US experts. Forrest and colleagues say that although any one such condition may be rare, about 6% to 8% of people will have a rare disease at some point during life. No single institution, and in many cases no single country, has sufficient numbers of patients to conduct generalisable clinical and translational research on any of these diseases. Thus, the call for a global open-science community with the infrastructure to provide, among other things, a forum for exchange of experiences and knowledge. Wouldn’t it be great if, each time a new registry for a rare disease is developed, we didn’t have to start from scratch?




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