Abstract
This paper provides an ethnographical study of the ways in which infrastructure matters in the production of knowledge in the social worlds of rare diseases. We analyse the role played by a relational database in this respect, which exists at the crossroads of a large and complex network of individuals, institutions, and practices. This database forms part of a “boundary infrastructure”, in which knowledge production constitutes one output of infrastructural work, that needs to be articulated with other kinds of activities and matters of concern. We analyse how members of the network negotiate the place and forms of knowledge production in relation to these other purposes, and highlight the political nature of the distinction between knowledge and information, which frames collective action. We also show how infrastructural inversion serves to articulate knowledge production with other forms of mobilisation, thereby shaping and reconfiguring the boundary infrastructure as a whole.Keywords: knowledge infrastructures, boundary infrastructures, relational databases, rare diseases
Highlights
This paper provides a conceptualisation of the role played by infrastructure in the production of knowledge on human rare diseases
Exploring the life and work of the knowledge infrastructure that constitutes and is constituted by the European rare diseases community, one cannot help but being struck by its dual nature, as something which alternates between being “taken for granted” and “problematic”, “learned as part of membership” and open to negotiation
Both from an external perspective, and from the insider outlook of the actors of the Rare Diseases Platform, infrastructure embodies both an achievement that manages to represent rare diseases and its multiple challenges, and a project which in its very form is fraught with enormous fragility and uncertainty – which in turn weighs upon the work of those involved and never ceases to question their collective involvement
Summary
This paper provides a conceptualisation of the role played by infrastructure in the production of knowledge on human rare diseases. In France and elsewhere in Europe these various actors have gradually begun to cooperate (frequently without consensus) in order to gather resources, align political agendas, and manage a large and ever-extending variety of projects related to rare diseases Some of these projects aim to foster biomedical research in order to document epidemiological, clinical and genetic aspects of understudied diseases and disorders. Still others work for the promotion of orphan drug development by the pharmaceutical industry, or the empowerment of patients and their relatives, for instance through the building of online communities, participation in clinical trials, and struggle for equal access to available treatment and healthcare These patterns of cooperation across the network have come to rely ever more heavily upon an array of work routines and tools, such as online databases, diagnostic expert systems, classification systems, indexes, registries and so on. This set of distributed technical, informational and organisational resources constitutes an infrastructure that shapes ways of knowing, working and living with rare diseases
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
