Situated at the intersection of the social and biological, rare diseases have received increased attention from biomedicine, social sciences, health policy, and patient organizations in the last decades. Rare diseases lack a uniform global definition. Nonetheless, they are characterized by a low prevalence in populations (e.g., 1:2000 in the European Union), an inadequate number of experts and knowledge, scarcity of treatment modalities as well as a high emotional valence.
Recognizing the emergent, heterogenous, and situated nature of rare diseases, in this workshop we propose looking at these conditions as “assemblages” (Collier and Ong 2005) that require interdisciplinary scrutiny. Thus, we encourage ethnographically grounded and/or theoretical papers that examine the assemblages of rare diseases through the following analytical lenses (click on subjects for details):
1. Production of knowledge and knowledge practices in rare diseases
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?
2. Biosocialities, patient organizations, and activism in the area of rare diseases
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?
3. Care in rare diseases
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)?
4. Bioethics and rare diseases
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?
5. Rare diseases in health policies and public health
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?
6. Food and nutrition
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)?
7. Imagined and abandoned futures
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?
We invite scholars in anthropology, sociology, STS, disability studies, medical humanities, and related disciplines to submit paper proposals that critically address assemblages of rare diseases. Paper proposals should include: (1) name of the author(s), (2) title of the paper, (3) up to 250-word abstract, and (4) a short biographical note. Please submit proposals by November 25, 2021, to email@example.com The decisions will be made by December 1, 2021.
There is no workshop fee. This workshop is planned in hybrid mode (in-person and online). We plan to publish a selection of workshop papers as a journal special issue.
This workshop is funded by the National Science Center in Poland (grant no. 2017/26/E/HS3/00291).
Workshop organizers: Rare Disease Social Research Center (RDSRC)
Małgorzata Rajtar, RDSRC/Institute of Philosophy and Sociology PAS
Jan Frydrych, RDSRC and University of Warsaw
Katarzyna E. Król, GSSR, RDSRC/Institute of Philosophy and Sociology PAS
Filip Rogalski, RDSRC/Institute of Philosophy and Sociology PAS
Photo © Tomasz Saliński