Rare Diseases (RDs) pose a Global Health and development concern. Lacking a universal definition, RDs are defined as conditions that affect no more than 1 in 2000 individuals in the EU and Australia, fewer than 200,000 persons in the US, and fewer than 50,000 in Japan. It is estimated that some 30 million individuals in the EU and 263-446 million people globally live with one of the over 6000 RDs. Thus, diversely defined and individually dispersed, RDs affect large numbers of people in total. In a 2021 resolution, the United Nations (UN) presented the complex nature of the challenges people living with a RD and their families face as intrinsically linked to both human rights and to the Sustainable Development Goals. The UN thus urges Member States to implement national measures to ensure that these individuals are not left behind. Regarded as a vulnerable population in health policy documents, vulnerabilities of people with RDs are nonetheless highly diverse, and dependent on different national and local settings. In the 2021 report from the Global Needs Assessment Study, Rare Disease International identified ten common challenges and needs that impact diagnosis, care, and treatment of the RD population globally. A significant proportion of those challenges and needs lies beyond the realm of biomedicine and life sciences; these include social acceptance, equality, inclusion, political recognition, geographical and cultural considerations, and empowerment among others. Despite the identification of such needs, social science approaches are still underdeveloped in the globalizing RD field. Social scientists have been recognized for their ability to provide invaluable insights on health and illness in diverse social, economic, and political contexts.
Global Health, by definition, aims to improve health and to achieve health equity for all and recognizes from the outset that health is determined by problems, issues, and concerns that transcend national boundaries. Yet, rooted and promoted in the Western world, Global Health initiatives have recently received ample criticism for being governed by biomedical reductionism. The comparative and holistic, i.e., multifactorial approach intrinsic to social science methods, especially ethnography, may illuminate why certain health policies and interventions succeed or fail and identify the unintended social, political, and economic consequences of biomedical reductionism in the field of RDs and Global Health.