ABSTRACT

Human genetics became a specific field of scientific research soon after the end of World War II, with the appointment of Lionel Penrose as head of the London Galton Laboratory. Together with a remarkable series of other workers at University College London, Penrose's unit became the focus for those from Britain and many other countries wishing to train in human genetics, who in turn provided the foundation for specifically medical genetics research in their own units. Parallel to this, a series of Medical Research Council units was founded, largely to understand the genetic risks of radiation, a topic of special concern following the development of nuclear weapons. Two of these, at Edinburgh and Harwell, pioneered techniques for studying human chromosomes and were responsible for discovery of the first chromosome disorders from 1959 onwards. MRC units at Oxford and Institute of Child Health, London, initiated systematic clinical and family studies of genetic disorders, led by Alan Stevenson and John Fraser Roberts. Elsewhere, the Paediatric Research Unit at Guy's Hospital, London under Paul Polani and the Liverpool Medical Genetics Institute under Cyril Clarke developed clinically orientated research that established medical genetics as a well-defined part of both paediatric and adult medicine.