From ‘politics of numbers’ to ‘politics of singularisation’: Patients’ activism and engagement in research on rare diseases in France and Portugal

Rabeharisoa, Vololona; Callon, Michel; Filipe, Ângela Marques; Nunes, João; Paterson, Florence; Vergnaud, Frédéric

doi:10.1057/biosoc.2014.4

Cited by 54 publications

(50 citation statements)

References 35 publications

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“…However, the majority of the organizations we spoke with were more concerned with producing or analyzing personally relevant genomic research questions or information that they saw as posing a direct challenge to the established hierarchy of knowledge, opening opportunities to participate in (and benefit from) genomic research on their own terms. Our findings are more in line with Rabeharisoa et al (2014b) who found that the epidemiologicbased goal of 'generalizability' did not resonate with members of rare disease patient advocacy groups. Instead, they were motivated by what the authors label as a ''politics of singularisation,'' which allows them to share the specificities of their situations while still joining together collectively and in fact wishes to capitalize on those experiences rather follow a logic of numbers, where research benefits are only accrued based on sufficient sample sizes.…”

Section: Discussionsupporting

confidence: 88%

“Let’s pull these technologies out of the ivory tower”: The politics, ethos, and ironies of participant-driven genomic research

et al. 2017

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This paper investigates how groups of 'citizen scientists' in non-traditional settings and primarily online networks claim to be challenging conventional genomic research processes and norms. Although these groups are highly diverse, they all distinguish their efforts from traditional university-or industry-based genomic research as being 'participant-driven' in one way or another. Participant-driven genomic research (PDGR) groups often work from 'labs' that consist of servers and computing devices as much as wet lab apparatus, relying on information-processing software for data-driven, discovery-based analysis rather than hypothesis-driven experimentation. We interviewed individuals from a variety of efforts across the expanding ecosystem of PDGR, including academic groups, start-ups, activists, hobbyists, and hackers, in order to compare and contrast how they relate their stated objectives, practices, and political and moral stances to institutions of expert scientific knowledge production. Results reveal that these groups, despite their diversity, share commitments to promoting alternative modes of housing, conducting, and funding genomic research and, ultimately, sharing knowledge. In doing so, PDGR discourses challenge existing approaches to research governance as well, especially the regulation, ethics, and oversight of human genomic information management. Interestingly, the reaction of the traditional genomics research community to this revolutionary challenge has not been negative: in fact, the community seems to be embracing the ethos espoused by PDGR, at the highest levels of science policy. As conventional genomic research assimilates the ethos of PDGR, the movement's 'democratizing' views on research governance are likely to become normalized as well, creating new tensions for science policy and research ethics.

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Section: Discussionsupporting

confidence: 88%

“Let’s pull these technologies out of the ivory tower”: The politics, ethos, and ironies of participant-driven genomic research

et al. 2017

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“…Lógicas distintas permeiam as percepções de risco e responsabilidade. O que talvez podemos apontar como elemento comum é a valorização da família como núcleo do cuidado, e seu papel central no campo político e social na busca por direitos em saúde que atendam as especificidades das pessoas com doenças raras [31][32][33] . Isso não difere muito de outras condições crônicas de adoecimento que têm na família o suporte para o cuidado, como evidenciado em algumas pesquisas [34][35][36] .…”

Section: Família E Sofrimentos De Longa Duraçãounclassified

Trajetórias Terapêuticas Familiares: doenças raras hereditárias como sofrimento de longa duração

Aureliano

2018

Ciênc. saúde coletiva

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“…Thus, for example, in the United States in the 80s and in Europe in the 90s certain patients' organizations helped to take care of social justice and fairness regarding questions on RDs (Rabeharisoa et al, 2014). Both in the USA, with the National Organization for Rare Disorders (NORD) and in Europe, with the European Organization for Rare Disorders (EURORDIS), these organizations have influenced policy in their respective countries.…”

Section: Rare Disordersmentioning

confidence: 99%

A systematic review of research into rare diseases in the educational sphere

Darretxe¹,

Gaintza²,

Monzon-Gonzalez³

2017

Educ. Res. Rev.

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Rare diseases (RDs) represent a wide, varied group of illnesses characterised by their low prevalence among the population. Moreover, they can appear at any time of life, including in infancy. For this reason, the aim of this article was to review and analyse research in the field of education to find out what kind of educational response is offered by schools to pupils with RDs. The following databases were used to find the pertinent bibliography: Web of Science, Scopus, Education Database (Proquest) and Eric. After retrieving the publications included in this study, each paper was reviewed and analysed on the basis of what journal they were published in and their abstracts. Out of the 53 studies included, only six bore any relation to the school context. The results showed that while there are scientific papers on RDs, most of them are restricted to the medical sphere. It was therefore concluded that further research is needed in the field of education to advance in the schooling of pupils with RDs.

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From ‘politics of numbers’ to ‘politics of singularisation’: Patients’ activism and engagement in research on rare diseases in France and Portugal

Cited by 54 publications

References 35 publications

“Let’s pull these technologies out of the ivory tower”: The politics, ethos, and ironies of participant-driven genomic research

“Let’s pull these technologies out of the ivory tower”: The politics, ethos, and ironies of participant-driven genomic research

Trajetórias Terapêuticas Familiares: doenças raras hereditárias como sofrimento de longa duração

A systematic review of research into rare diseases in the educational sphere

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