The brazilian production of knowledge about rare diseases: actors, institutions, motivations and barriers

Manuela R Cirigliano & Maria de Costa (State University of Campinas, SP/Brazil)

Panel: Production of knowledge and knowledge practices in rare diseases

Abstract: The scientific knowledge about rare diseases is poorly available and most of the existing one is mainly produced under the biomedical paradigm, with emphasis on pharmaceuticals. Therefore, other dimensions of the life of people with rare diseases remain unclear, resulting in a lack of scientific and public support in the everyday life of this population. Nevertheless, despite the potential to change or create policies to take care of this population, the knowledge provided by the scientific production regarding rare diseases is small and invisible, especially when it comes from non-biomedical works. Meanwhile, in the case of Brazil, it seems to have a lack of information about rare diseases, i.e., there are no scientometric studies about the local production of knowledge and some information about the size of the population with rare diseases. The objective of this research is to understand how the Brazilian production of scientific knowledge and rare diseases has been articulated. A qualitative-quantitative approach which includes interviews and a bibliometric study of the Brazilian production will help to understand and analyze this problem. Exploring the Lattes Platform database, this study expects to identify: the scientific community constructs a rare disease in Brazil; the types of rare diseases have been receiving attention; 3.the researchers, research groups, universities, research institutes and areas/fields of knowledge dedicated to the subject; 4.the funding institutions, grants and fellowship programs supporting this kind of research; 5.the motivations of professionals in studying rare diseases and 6.the barriers faced by them on researching this thematic.