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With every passing year, more and more people learn that they or their young or unborn child carries a genetic mutation. But what does this mean for the way we understand a person? Today, genetic mutations are being used to diagnose novel conditions like the XYY, Fragile X, NGLY1 mutation, and 22q11.2 Deletion syndromes, carving out rich new categories of human disease and difference. Daniel Navon calls this form of categorization “genomic designation,” and in Mobilizing Mutations he shows how mutations, and the social factors that surround them, are reshaping human classification. Drawing on a wealth of fieldwork and historical material, Navon presents a sociological account of the ways genetic mutations have been mobilized and transformed in the sixty years since it became possible to see abnormal human genomes, providing a new vista onto the myriad ways contemporary genetic testing can transform people’s lives. Taking us inside these shifting worlds of research and advocacy over the last half century, Navon reveals the ways in which knowledge about genetic mutations can redefine what it means to be ill, different, and ultimately, human.
In this masterpiece of techno-medical suspense from the “master of the medical thriller” (The New York Times), Robin Cook tells the explosive tale of a brilliant doctor who sought to create the son of his dreams—and invented a living nightmare... When OB/GYN and biomolecular researcher Dr. Victor Frank learns of his wife’s infertility, he initiates a bold—and dangerous—experiment. Unbeknownst to everyone, including her, Dr. Frank has adapted the methods of animal husbandry and molecular genetics to human reproduction. Fusing his wife’s eggs and his own sperm, he sets in motion the production of a superior being, his child. The result of this experiment, a son, VJ, is born to a surrogate mother and legally adopted by the Franks. To their delight, their son is physically perfect, and by the age of three, displays the complex problem-solving abilities of a prodigy. Then, without warning, VJ’s intelligence level plunges to a point appropriate to his age, but stabilizes. For the moment, Dr. Frank can breathe a sigh of relief: even if VJ is no longer the genius he was, at least he will be normal. But that relief is tragically short-lived, for all too soon VJ begins to change again. And this time, there is no cause for comfort—only terror.
How can so many people pledge allegiance to punk, something with no fixed identity? Depending on who and where you are, punk can be an outlet, excuse, lifestyle, escapism, conversation, community, ideology, sales category, social movement, punishable offense, badge of authenticity, reason to drink beer forever, or an aesthetic of belligerent incompetence. And if someone has a strong belief about what punk is, odds are they have even stronger feelings about what punk is not. Sam McPheeters championed many different versions. Over the course of two decades, he fronted Born Against, released dozens of records and fanzines, and toured seventeen times across the northern hemisphere. In this collection of essays, profiles, criticism, and personal history, he examines the diverse realms he intersected--New York hardcore, Riot Grrrl, Gilman street, the hidden enclaves of Olympia, and New England, and downtown Los Angeles--and the forces of mental illness and creative inspiration that drove him, and others, in the first place.
"Jorge Comensal's The Mutations oscillates masterfully between comedy and tragedy, gathering up in its pages a stupendous panoply of characters before whom the reader is never sure whether to smile in sympathy or pity."—Fernando Aramburu, author of Homeland Ramón Martinez is a militant atheist, successful lawyer, and conventional family man. But all of that changes when cancer of the tongue deprives him of the source of his power and livelihood: speech. The Mutations, by Jorge Comensal, is a comedy tracing the metastasis of Ramón’s cancer through his body and in the lives of his family members, colleagues, and doctors, dissecting the experience of illness and mapping the relationships both strengthened and frayed by its wake. Mateo and Paulina, his teenage children, struggle with the temptations of masturbation and binge eating, respectively. Ramón’s melancholic oncologist is haunted by the memory of a young patient whom he was unable to save. His selfish pathologist believes Ramón’s tumor holds the key to a major scientific breakthrough. And then there’s Elodia, Ramón’s pious maid, who brings him a foulmouthed parrot as a birthday gift. This lewd bird becomes Ramón’s companion, confidant, and unlikely double. Paying homage to the works of forebears such as Sontag, Didion, Flaubert, and Tolstoy, and filled with a rough-hewn poetry of regret, rage, and finally resignation, The Mutations offers a profound but funny cross section of modern Mexican life, as well as a bold treatment of an unspeakable yet universal reality
The purpose of this book is to present a new theory of mutation-driven evolution, which is based on recent advances in genomics and evolutionary developmental biology. This theory asserts that the driving force of evolution is mutation and natural selection is of secondary importance.
A thought-provoking exploration of deleterious mutations in the human genome and their effects on human health and wellbeing Despite all of the elaborate mechanisms that a cell employs to handle its DNA with the utmost care, a newborn human carries about 100 new mutations, originated in their parents, about 10 of which are deleterious. A mutation replacing just one of the more than three billion nucleotides in the human genome may lead to synthesis of a dysfunctional protein, and this can be inconsistent with life or cause a tragic disease. Several percent of even young people suffer from diseases that are caused, exclusively or primarily, by pre ]existing and new mutations in their genomes, including both a wide variety of genetically simple Mendelian diseases and diverse complex diseases such as birth anomalies, diabetes, and schizophrenia. Milder, but still substantial, negative effects of mutations are even more pervasive. As of now, we possess no means of reducing the rate at which mutations appear spontaneously. However, the recent flood of genomic data made possible by next-generation methods of DNA sequencing, enabled scientists to explore the impacts of deleterious mutations on humans with previously unattainable precision and begin to develop approaches to managing them. Written by a leading researcher in the field of evolutionary genetics, Crumbling Genome reviews the current state of knowledge about deleterious mutations and their effects on humans for those in the biological sciences and medicine, as well as for readers with only a general scientific literacy and an interest in human genetics. Provides an extensive introduction to the fundamentals of evolutionary genetics with an emphasis on mutation and selection Discusses the effects of pre-existing and new mutations on human genotypes and phenotypes Provides a comprehensive review of the current state of knowledge in the field and considers crucial unsolved problems Explores key ethical, scientific, and social issues likely to become relevant in the near future as the modification of human germline genotypes becomes technically feasible Crumbling Genome is must-reading for students and professionals in human genetics, genomics, bioinformatics, evolutionary biology, and biological anthropology. It is certain to have great appeal among all those with an interest in the links between genetics and evolution and how they are likely to influence the future of human health, medicine, and society.
This book reevaluates the health risks of ionizing radiation in light of data that have become available since the 1980 report on this subject was published. The data include new, much more reliable dose estimates for the A-bomb survivors, the results of an additional 14 years of follow-up of the survivors for cancer mortality, recent results of follow-up studies of persons irradiated for medical purposes, and results of relevant experiments with laboratory animals and cultured cells. It analyzes the data in terms of risk estimates for specific organs in relation to dose and time after exposure, and compares radiation effects between Japanese and Western populations.
In contrast to any talk of "the death of the cinema", this title pronounces the art form alive and well, and still developing in new and unforeseen directions. Using transnational discussions and debates, it shows why the idea of cinephilia is just as relevant today as it ever was.
The idea of mutation has changed considerably from the pre-Mendelian concepts of Darwin's generation to today's up-to-the-minute genomic context of mutation. The historical approach taken by History of Mutation reveals the way science works, incrementally by small steps rather than by dramatic, and rare, paradigm shifts.