Making Genomic Medicine: The Rise of Rare Diseases

Wellcome Trust

Within the Wellcome Trust-funded research project to investigate the scientific and social factors that led to the emergence of genomic medicine, this strand explores the rise of rare diseases as an agenda of medical science and health policy over the last thirty years (firstly in the US and then in Europe). Particularly important in its history is the active role that rare disease patients and their carers played in changing both research and regulatory environments around their diseases. The aim of this strand is to historically situate their activities in the context of medical genetics and better conceptualise their ‘place’ in biomedicine.