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Life Histories of Genetic Disease: Patterns and Prevention in Postwar Medical Genetics
Explores the historical evolution of medical genetics in the postwar era, specifically focusing on how the field moved towards identifying, mapping, and preventing genetic diseases. It traces the development of infrastructures for organizing genetic information, from early heredity clinics and the visual analysis of chromosomes to advanced molecular techniques like DNA hybridization and microarrays. The text highlights the interplay between clinical observation and scientific advancements, demonstrating how conditions like Fragile X syndrome, Prader-Willi syndrome, and DiGeorge syndrome became understood through the lens of chromosomal abnormalities and gene mutations. Ultimately, the author examines the ongoing challenges and debates surrounding prenatal diagnosis and the one mutation–one disorder ideal in shaping medical practice and patient care.
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Published on 4 months, 2 weeks ago