Life histories of genetic disease : patterns and prevention in postwar medical genetics /

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Bibliographic Details
Author / Creator:Hogan, Andrew J., author.
Imprint:Baltimore : Johns Hopkins University Press, 2016.
Description:1 online resource
Language:English
Subject:
Format: E-Resource Book
URL for this record:http://pi.lib.uchicago.edu/1001/cat/bib/11408430
Hidden Bibliographic Details
ISBN:9781421420752
1421420759
9781421420745
1421420740
Digital file characteristics:data file
Notes:Includes bibliographical references and index.
Print version record.
Summary:Medical geneticists began mapping the chromosomal infrastructure piece by piece in the 1970s by focusing on what was known about individual genetic disorders. Five decades later, their infrastructure had become an edifice for prevention, allowing today's expecting parents to choose to test prenatally for hundreds of disease-specific mutations using powerful genetic testing platforms. In Life Histories of Genetic Disease, Andrew J. Hogan explores how various diseases were "made genetic" after 1960, with the long-term aim of treating and curing them using gene therapy. In the process, he explains, these disorders were located in the human genome and became targets for prenatal prevention, while the ongoing promise of gene therapy remained on the distant horizon. In narrating the history of research that contributed to diagnostic genetic medicine, Hogan describes the expanding scope of prenatal diagnosis and prevention. He draws on case studies of Prader-Willi, fragile X, DiGeorge, and velo-cardio-facial syndromes to illustrate that almost all testing in medical genetics is inseparable from the larger-and increasingly "big data"--Oriented-aims of biomedical research.
Other form:Print version: Hogan, Andrew J. Life histories of genetic disease. Baltimore : Johns Hopkins University Press, 2016 9781421420745
Review by Choice Review

Hogan (history, Creighton Univ.) presents a historical review of the "postwar" recognition, development, and medical response to human genetic diseases. Primarily covering work from 1960 through the present, the text focuses on well-characterized examples of genetically associated disorders. Fragile X syndrome, Prader-Willi syndrome, and DiGeorge syndrome were each initially characterized in the 1970s by cytogenetic associations and secondary development of molecular biology assays. By presenting a historical review of the critical scientific literature for these clinical examples, the narrative provides an excellent demonstration of the sequential, developmental process of scientific discovery and acceptance of disease mechanisms--what Hogan refers to as the "life history" of each disorder. Throughout, Hogan relates technological advancements to clinical improvements, especially through prenatal testing. The final chapter brings the modern molecular, post-human genome world into sharp focus by presenting current screening technologies. The sociological impact, controversies, and response are addressed via specific authors or examples, but are not presented as a central theme. As a highlight of this text, Hogan ensures that the valuable and insightful contributions of many women scientists are included, along with their male colleagues. Summing Up: Recommended. Lower-division undergraduates and above; faculty and professionals. --Dale L. Beach, Longwood University

Copyright American Library Association, used with permission.
Review by Choice Review