CFP

The “invention” of rare diseases is heavily intertwined with the development of scientific and technological knowledge and expertise. Thus, we ask how genetic and medical knowledge about rare diseases is produced and enacted (e.g., Featherstone and Atkinson 2012)? By whom? For what purposes? What knowledge claims and assumptions are made by scientific experts and “lay experts” (Epstein 1995) when it comes to rare diseases? What is the role of the public in fueling and shaping these claims and assumptions?

Since the mid-1990s, the concept of “biosociality” (Rabinow 1996) has been invaluable in analyzing the emergence of new identities that result from novel developments in genetics and genomics (e.g., Gibbon and Novas 2008). How do new genetic mutations create new kinds of people (Hacking 2006, Navon 2019)? What is the role of biosocial groups and/or patient organizations in “evidence-based activism” (Rabeharisoa et al. 2014)? What is the role of social media (Akrich 2010, Herbst 2016) in building patient communities and/or transnational activist alliances?

In the last decade, social science scholarship has developed a rich and multifaceted understanding of the concept of care. Following the recent notion of a “double vision of care” (Lindén and Lydahl 2021, see also Coopmans and McNamara 2020), in this workshop we want to attend to care as both a tinkering and material practice (e.g., Mol et al. 2010), and a critical, politically grounded, and “selective mode of attention” (Martin et al. 2015:3). Hence, we ask: How is care in rare diseases enacted? What kinds of human and non-human actors are involved in providing care in rare diseases? What kinds of assemblages do practices of care produce (Buse et al. 2018, Latimer 2018, Puig de la Bellacasa, 2017)? What visions of care are employed in politics and social discourses on rare diseases? Finally, what other modes of attention in rare diseases are being excluded and/or overshadowed by the notion of care (Martin et al. 2015, Murphy 2015)?

From the outset, discourses on rare diseases have been intertwined with bioethical debates on genetic counseling, risk, newborn screening, and biobanking to name a few (e.g., Just and Druml 2020, Timmermans and Buchbinder 2013). What are the specific ethical questions related to diagnostics, treatment practices, and biomedical technologies in the field of rare diseases? How do bioethical debates translate into locally grounded clinical and research practices? What ethical challenges do rare disease patients face in clinical trials?

Social science researchers have emphasized the “unique” nature of rare diseases from the perspective of public health and epidemiology and the difficulty of comparing “the medical and social data concerning rare diseases with similar data concerning very common diseases” (Huyard 2009:362). In the current emphasis on evidence-based medicine (EBM) in global public health (e.g., Adams 2013), the low number of individuals with rare diseases makes it hard to generalize and build the statistical models of evidence favored by EBM. In this workshop, we are interested in analyses of health policy recommendations (i.e., national plans or strategies in the EU) and interventions in the field of rare diseases and their impact on different stakeholders. We also ask, what is the place of rare disease data in the production of knowledge through EBM and RCTs? What process and practices of the “datafication of health” (Ruckenstein and Schüll 2017) are utilized in the case of rare diseases? How does the “smallness” (Hannerz and Gingrich 2017) of rare disease populations impact health policy? What practices are employed in the “judicialization of health” (Aureliano and Gibbon 2020; Biehl 2013) for rare diseases? Finally, how does disability figure into health policies on rare diseases?

Recent developments in biomedicine and the considerable expansion of newborn screening programs (Timmermans and Buchbinder 2013) have transformed rare metabolic disorders into chronic conditions that require a strict dietary regimen. We propose looking at metabolism not only as a biological process but also as a “site of anthropological analysis” (Solomon 2016:13) and to observe socio-political conditions of “metabolic living” (Solomon 2016) with rare metabolic disorders. What kind of “cultures of nutrition” (Cuj et al. 2020) arise within rare metabolic disorders? Do nutritional treatment strategies recognize collective subjectivities, or are they reduced to individual patient-bodies (Yates-Doerr and Carney 2016)? How do they challenge the ideology of “nutritionism” (Scrinis 2014)?

While grounded in the present, rare diseases are nonetheless all about the future: the discovery of new disorders, the development of new diagnostic possibilities, and new treatment modalities. We ask, how do patients, activists, health professionals, and policymakers imagine the future of rare diseases? What potentialities and hopes (Taussig et al. 2013) are embedded in living with and studying rare diseases? Finally, how does a rare disorder influence future life projects?