ABSTRACT
Since the very beginnings of medical genetics, Britain has been in the forefront of the field internationally, and it remains so. Many of the important pre-war advances in human genetics, largely theoretical but often founded on clinical data, were British in origin, while most of the initial post-war developments in cytogenetics likewise came from Britain. During the second half of the twentieth century, which can be considered as the ‘classical’ period of medical genetics, a steady flow of discoveries, many by basic scientists in fields other than genetics, flowed into medical genetics research and also allowed new genetic services to develop. This is continuing as the field moves into a new ‘genomic’ phase following completion of the Human Genome Project. Close collaboration between disciplines and internationally has been a prominent feature of all this work. This chapter looks at just a few of the many research advances involving medical genetics in Britain; collectively and individually they show a remarkable array of talent, ingenuity and originality, as well as a mostly stable and responsible research governance by the funding bodies involved, such as Medical Research Council, Wellcome Trust and other major medical charities.
