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The PKU Paradox: A Short History of a Genetic Disease (Johns Hopkins Biographies of Disease) Paperback – November 5, 2013

ISBN-13: 978-1421411316 ISBN-10: 1421411318 Edition: 1st

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Frequently Bought Together

The PKU Paradox: A Short History of a Genetic Disease (Johns Hopkins Biographies of Disease) + Low Protein Cookery for Phenylketonuria + Penny the Penguin has PKU
Price for all three: $65.96

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Editorial Reviews

Review

Paul and Brosco are to be congratulated on producing an extremely worthwhile, interesting and very readable book. I highly recommend it to geneticists, bioethicists, to those directly or indirectly involved in newborn screening, and to all others who wish to understand the basis for the current enthusiasm about the role of genetics and genetic screening in health and the prevention of disease.

(Harvey L. Levy Journal of Medical Genetics)

A highly compelling story about a successful medical intervention—literally life changing—that has also had unintended consequences. This study is extremely relevant to contemporary genomic medicine.

(M. Susan Lindee, University of Pennsylvania)

The PKU Paradox will be essential reading for anyone interested in the sociocultural, ethical and historical aspects of PKU and newborn screening more generally.

(Mara Buchbinder Social History of Medicine)

This book is a fascinating biography of this syndrome... enriched by illustrations from public health campaigns, advertising material for PKU-friendly supplements, and interviews with people who have lived with PKU and who have given first-hand accounts of their lived experience... The PKU Paradox is a useful and provoking addition to the Biographies of Disease series.

(Philippa Martyr Health and History)

The ability to illustrate a wide range of historical themes through a single, compelling case will make The PKU Paradox particularly useful for undergraduate teaching, as will the short, concisely written chapters. It is not an easy task to clearly portray the history of a subject as complex and elusive as disease, and Paul and Brosco have done an admirable job in this regard. The PKU Paradox will be essential reading for anyone interested in the sociocultural, ethical and historical aspects of PKU and newborn screening more generally.

(Mara Buchbinder Social History of Medicine)

Paul and Brosco are to be commended for reminding us all how central the PKU story has been to the development of genetics and medicine, the connection of genotype to phenotype to society, and to the way this society views people with intellectual disabilities. This is a book that should be read by all geneticists and physicians and people with an interest and concern about individuals for with intellectual impairments.

(John B. Jenkins Quarterly Review of Biology)

The PKU Paradox is a clearly and engagingly written book that provides an excellent introduction to the history of a disease and its broader implications in twentieth-century biomedicine.

(Soraya De Chadarevian Isis)

About the Author

Diane B. Paul is a professor emerita at the University of Massachusetts, Boston, and a research associate at the Museum of Comparative Zoology, Harvard University. Jeffrey P. Brosco, M.D., is a professor of clinical pediatrics at the Miller School of Medicine, University of Miami. He serves as chair of the Pediatric Bioethics Committee at Jackson Memorial Hospital and is associate director of the Mailman Center for Child Development.

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Product Details

  • Series: Johns Hopkins Biographies of Disease
  • Paperback: 320 pages
  • Publisher: Johns Hopkins University Press; 1 edition (November 5, 2013)
  • Language: English
  • ISBN-10: 1421411318
  • ISBN-13: 978-1421411316
  • Product Dimensions: 5.5 x 0.8 x 8.5 inches
  • Shipping Weight: 12.8 ounces (View shipping rates and policies)
  • Average Customer Review: 5.0 out of 5 stars  See all reviews (3 customer reviews)
  • Amazon Best Sellers Rank: #304,423 in Books (See Top 100 in Books)

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Most Helpful Customer Reviews

1 of 1 people found the following review helpful By R. Albin TOP 500 REVIEWER on October 4, 2014
Format: Paperback
This concise, thoroughly researched, and very well written book is an excellent exploration of a number of important aspects of modern biomedicine through a case study of phenylketonuria (PKU). The authors are the astute historian of eugenics Diane Paul and Jeffrey Brosco, a developmental pediatrician. The careful scholarship and thoughtful analysis reflects the complementary expertise of this team. PKU is a rare, recessive genetic disease causing mental retardation. PKU is usually presented as a triumph and model of biomedical research. Following the discovery of the biochemical defect, a dietary intervention was developed that markedly improved the natural history of PKU. This is often hailed as the first example of treating a genetic disease (though therapy for Wilson's disease would be a competitor for that distinction) and an exemplar of proceeding from understanding the basic defect to successful therapy. The authors show that this reductive version is correct but inadequate.

Paul and Brosco nicely outline the history of the discovery of PKU, the somewhat fortuitous discovery of the biochemical defect, and the development of dietary therapy. This therapy markedly changed the dismal prognosis of PKU. This well told story is only the point of departure for Paul and Brosco's thoughtful analysis of several interestng aspects of the PKU story, a number of which are recurrent themes in modern biomedical research. The authors emphasize crucial role of lay organizations and lobbyists in PKU related research, therapy development and implementation, and the important role of parent advocates in mental retardation research generally. In addition to being a model for therapy development, PKU was the pioneering disease for neonatal disease screening.
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I thought I knew a bit about the history of PKU testing until I read this book. PKU is always upheld as THE success story of genetic testing: a disease with a simple diagnostic test in infants that leads to a fully effective dietary intervention that prevents brain damage. The truth is much more complicated, sobering, and interesting. Historian of science Diane Paul uses PKU as a window to explore the successes, failures, and cautionary tales of genetic testing in general. Her approach is highly original, humanistic, and accessible to any reader curious about the history of genetics in medicine. I pretty much read it at one sitting- it's that engrossing.
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0 of 1 people found the following review helpful By robin on June 26, 2014
Format: Kindle Edition
in depth presentation of the people and science behind the governmental mandates for newborn screening for metabolic diseases. it discusses the financial challenges of getting the needed protein formula as well.
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