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Anticipation in hereditary disease: the history of a biomedical concept

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Abstract

In the mid-nineteenth century, it was commonly believed that hereditary disease struck at the same time in succeeding generations, except for those cases in which it appeared at an earlier age. This exception to the rule was the precursor for the concept of anticipation in hereditary disease, a pattern of inheritance where a hereditary illness strikes earlier and often more severely in succeeding generations. Anticipation underwent cycles of acceptance and rejection over the course of the twentieth century and the ways in which this concept was received reveal complex interactions between science, medicine, and society.

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Acknowledgments

This paper has its origins in a talk that was given at the Fourth International Workshop on Genetics, Medicine and History 11–12 June 2010, Gothenburg Sweden while I was a postdoctoral fellow at the Max Planck Institute of the History of Science. I would like to thank the Writing Group at the Office of History, National Institutes of Health, for their feedback on an earlier draft of this article. The comments and suggestions made by Dr. Peter Harper and the anonymous reviewers at Human Genetics were also very much appreciated. I would like to thank the Royal Society of Medicine, the Wellcome Library, London, University College London Library Special Collections, and Chris Höweler for providing permissions for the illustrations which appear with the article. Funding for my research has been provided by the National Institutes of Health, the Max Planck Institute for the History of Science, the Rockefeller Archive Center, and the Social Sciences and Humanities Research Council of Canada.

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    Judith E. Friedman

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Friedman, J.E. Anticipation in hereditary disease: the history of a biomedical concept. Hum Genet 130, 705–714 (2011). https://doi.org/10.1007/s00439-011-1022-9

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