Victor McKusick and the history of medical genetics

Abstract

Victor McKusick's contributions to human gene mapping, to the delineation and classification of genetic disorders, and to the building of medical genetics as a clinical and academic discipline are well recognised and well documented, both by his own writings and by those of others. His role as a historian of science and medicine through his historical approaches to medical genetics is less well recognised, however, though his historical opening chapter in Emery and Rimoin's textbook Principles and Practice of Medical Genetics is a lasting reminder of this to the medical genetics community. In some ways, McKusick has been regarded as embodying the history of medical genetics through being himself, rather than through his specific contributions.