Moments of Truth in Genetic Medicine
Publication Year: 2005
Published by: The Johns Hopkins University Press
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My first and most profound debt is to Dorothy Nelkin. Dot was my mentor,coauthor, and friend. She read and commented on most of what I have writ-ten, not only for this project but for almost everything I have worked on over the past two decades. She was involved with this study from...
Chapter 1: Introduction
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Human genetics was transformed from a medical backwater to an appealing medical research frontier between 1955 and 1975. This periodization was not obvious to me when I began my study, but over and over again I found these twenty years emerging as a turning point in the fortunes of genetic disease. This book, therefore, explores the institutions...
Chapter 2: Babies' Blood: Phenylketonuria and the Rise of Public Health Genetics
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One of the great success stories in the history of genetic disease was engineered not by geneticists, physicians, or biochemists but primarily by advocates for children with mental retardation. Over the ten years from 1953 to 1963, an obscure and extremely rare metabolic disorder became the focus...
Chapter 3: Provenance and the Pedigree: Victor McKusick’s Field Work with the Pennsylvania Amish
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Provenance is the record of the “ultimate derivation and passage of an item through its various owners.”1 It is commonly used to describe the history or pedigree of a painting—who has owned it, its value at various stages of ownership— but it also has a meaning in silviculture, in which it refers explicitly to genetic stock...
Chapter 4: Squashed Spiders: Standardizing the Human Chromosomes and Other Unruly Things
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In 1961 the University of Glasgow pathologist Bernard Lennox noted that the British medical journal Lancet had recently been “freely littered” with images “said to look like masses of squashed spiders” (Lennox 1961). The spiders in question were highly processed human chromosomes, shaped roughly like Xs...
Chapter 5: Two Peas in a Pod: Twin Science and the Rise of Human Behavior Genetics
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Twin studies require resolution of the question of zygosity—whether samesex twins are derived from a single fertilized egg or from two different fertilizations. The “twin method” compares these two types of twins, and knowing which twins fall into which category is crucial. Scientists in the immediate postwar period determined...
Chapter 6: Jewish Genes: History, Emotion, and Familial Dysautonomia
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Most genetic diseases are “small.” They affect very few people. They are also often strange and difficult to recognize. Most physicians never see most of the diseases that appear in Victor McKusick’s catalogue, Mendelian Inheritance in Man. Unlike cancer or heart disease or depression, these diseases...
Chapter 7: Conclusions
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In 1994, cancer researcher Bert Vogelstein told a reporter for the Journal of the American Medical Association that “in the last 10 years and especially in the last 5 years, there has been a revolution in cancer research. I can sum up the revolution in one statement: Cancer is in essence a genetic disease” (Breo 1994). Vogelstein proceeded to describe...
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Essay on Sources
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The published literature on genetic disease is diverse, but serious historical attention is rare and none of what I have read takes exactly the approach I have chosen. I am indebted to many participant historians who have analyzed their fields, thought about historical change, and identified key questions and problems. Barton Childs’s sustained and deep attention to genetic...
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Page Count: 288
Illustrations: 1 line drawing, 7 halftones
Publication Year: 2005