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History - The PKU Paradox: A Short History of a Genetic Disease (Johns Hopkins Biographies of Disease)

Description

Book Synopsis: How did a disease of marginal public health significance acquire paradigmatic status in public health and genetics? In a lifetime of practice, most physicians will never encounter a single case of PKU. Yet every physician in the industrialized world learns about the disease in medical school and, since the early 1960s, the newborn heel stick test for PKU has been mandatory in many countries. Diane B. Paul and Jeffrey P. Brosco’s beautifully written book explains this paradox.

PKU (phenylketonuria) is a genetic disorder that causes severe cognitive impairment if it is not detected and treated with a strict and difficult diet. Programs to detect PKU and start treatment early are deservedly considered a public health success story. Some have traded on this success to urge expanded newborn screening, defend basic research in genetics, and confront proponents of genetic determinism. In this context, treatment for PKU is typically represented as a simple matter of adhering to a low-phenylalanine diet. In reality, the challenges of living with PKU are daunting.

In this first general history of PKU, a historian and a pediatrician explore how a rare genetic disease became the object of an unprecedented system for routine testing. The PKU Paradox is informed by interviews with scientists, clinicians, policymakers, and individuals who live with the disease. The questions it raises touch on ongoing controversies about newborn screening and what happens to blood samples collected at birth.

Details

Discover the fascinating story behind the public health phenomenon with "The PKU Paradox: A Short History of a Genetic Disease". Written by Diane B. Paul and Jeffrey P. Brosco, this gripping account explores why a disease of marginal significance in public health has achieved paradigmatic status in genetics and medical education. Unravel the mysteries of PKU and delve into the complex world of genetic disorders that affect cognitive function.

PKU, also known as phenylketonuria, is a genetic disorder that can lead to severe cognitive impairment if left undetected and untreated. With its groundbreaking discovery, newborn screening programs have emerged as a tremendous success in detecting and treating PKU early on. The advancements made in genetics research and public health practices owe much to the profound impact of PKU. As you explore the pages of this book, you'll gain valuable insights into the history of genetic disorders and the challenges they present.

By offering a comprehensive examination of PKU, "The PKU Paradox" challenges conventional perceptions and sheds light on the complex reality of living with this condition. While treatment may appear as a simple matter of adhering to a low-phenylalanine diet, the truth is that the challenges faced by individuals with PKU are daunting. Gain a deep understanding of the physical, emotional, and social obstacles endured by those living with PKU, as shared by scientists, clinicians, policymakers, and individuals directly affected by the disease.

Prepare to be captivated by this thought-provoking account of how a rare genetic disease became the subject of an unprecedented system for routine testing. "The PKU Paradox" unearths the intriguing story surrounding newborn screening and the fate of blood samples collected at birth. Through gripping narratives, this first general history of PKU offers a unique perspective on ongoing controversies in genetic research and newborn screening policies.

Are you ready to embark on a journey through the captivating history of PKU? Immerse yourself in the engaging pages of "The PKU Paradox: A Short History of a Genetic Disease". Gain a deeper understanding of the complexities of genetic disorders and the pivotal role they play in the realm of public health and genetics. Don't miss out on this extraordinary opportunity to explore the remarkable achievements and challenges associated with PKU and its impact on scientific research.

Curiosity beckons as "The PKU Paradox" uncovers the secrets behind the prevalence of PKU in medical education and the industrialized world. Join us as we unveil the mysteries of this genetic disorder that has perplexed physicians and shaped the landscape of modern medicine. With each turning page, you'll delve deeper into the history of PKU, supported by interviews with prominent scientists, clinicians, and policymakers.

Now is the perfect time to uncover the truth behind PKU and its enduring impact on genetic research, newborn screening, and the lives of those affected. Don't miss your chance to experience a compelling journey that challenges perceptions and raises crucial questions about genetic determinism. Order your copy of "The PKU Paradox: A Short History of a Genetic Disease" today and embark on an extraordinary exploration of this captivating subject.Click here to place your order.

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