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"[Kolata] is a gifted storyteller. Her account of the Baxleys... is both engrossing and distressing... Kolata's book raises crucial questions about knowledge that can be both vital and fatal, both pallative and dangerous." —Andrew Solomon, The New York Review of Books New York Times science reporter Gina Kolata follows a family through genetic illness and one courageous daughter who decides her fate shall no longer be decided by a genetic flaw. The phone rings. The doctor from California is on the line. “Are you ready Amanda?” The two people Amanda Baxley loves the most had begged her not to be tested—at least, not now. But she had to find out. If your family carried a mutated gene that foretold a brutal illness and you were offered the chance to find out if you’d inherited it, would you do it? Would you walk toward the problem, bravely accepting whatever answer came your way? Or would you avoid the potential bad news as long as possible? In Mercies in Disguise, acclaimed New York Times science reporter and bestselling author Gina Kolata tells the story of the Baxleys, an almost archetypal family in a small town in South Carolina. A proud and determined clan, many of them doctors, they are struck one by one with an inscrutable illness. They finally discover the cause of the disease after a remarkable sequence of events that many saw as providential. Meanwhile, science, progressing for a half a century along a parallel track, had handed the Baxleys a resolution—not a cure, but a blood test that would reveal who had the gene for the disease and who did not. And science would offer another dilemma—fertility specialists had created a way to spare the children through an expensive process. A work of narrative nonfiction, Mercies in Disguise is the story of a family that took matters into its own hands when the medical world abandoned them. It’s a story of a family that had to deal with unspeakable tragedy and yet did not allow it to tear them apart. And it is the story of a young woman—Amanda Baxley—who faced the future head on, determined to find a way to disrupt her family’s destiny.
The second edition of this groundbreaking guidebook provides up-to-date treatments and compassionate guidance for anyone affected by bipolar disorder—from the recently diagnosed to chronic sufferers and their families. You’ll receive tips from world-renowned experts—including coauthor Nancy Rosenfeld, herself a bipolar survivor—and learn about vital new options and innovations in bipolar treatment and research, such as:•New precautions: why some patients can get worse rather than better when taking antidepressant medication•The inside story on atypical antipsychotic medications, antidepressants, and other medications that affect neurotransmitters•New genetic research, studies on serotonin, studies into childhood and adolescent bipolar disorder, and results of neuron imaging and neuropsychological testing•Advice on making instant, effective lifestyle changes, coping with stigma, and deciding whether or not—and how—to disclose your illness to others.•A guide to the many evolving forms of psychotherapy
Much research has attempted to show direct linear relations between genes and disorder. However, scientists have been discouraged by inconsistent findings based on this simple gene-phenotype approach. The alternative approach is to incorporate information about the environment. A gene-environment interaction approach assumes that environmental pathogens cause disorder, whereas genes influence susceptibility to environmental pathogens. This book brings together contributions from experts from multiple disciplines who discuss: How epidemiological cohort studies can better integrate physiological (mechanistic) measures; How best to characterise subjects’ vulnerability versus resilience by moving beyond single genetic polymorphisms; How gene hunters can benefit from recruiting samples selected for known exposures; How environmental pathogens can be used as tools for gene hunting; How to deal with potential spurious (statistical) interactions, and How genes can help explain fundamental demographic properties of disorders (e.g. sex distribution, age effects).
In Problems Unique to the Holocaust, today's leading Holocaust scholars examine the difficult questions surrounding this terrible chapter in world history. Is it ever legitimate to betray others to save yourself? If a group of Jews is hiding behind a wall and a baby begins to cry, should an adult smother the child to protect the safety of the others? Should the men and women who took their own lives in the face of the Nazi onslaught be considered suicide or murder victims? How guilty are the bystanders who saw what was happening but did nothing to aid the victims of persecution?
Biomedical research is increasingly carried out in low- and middle-income countries. International consensus has largely been achieved around the importance of valid consent and protecting research participants from harm. But what are the responsibilities of researchers and funders to share the benefits of their research with research participants and their communities? After setting out the legal, ethical and conceptual frameworks for benefit sharing, this collection analyses seven historical cases to identify the ethical and policy challenges that arise in relation to benefit sharing. A series of recommendations address possible ways forward to achieve justice for research participants in low- and middle-income countries.
This two-volume encyclopedia examines the history, characteristics, causes, and treatment of genetic disease, as well as the science of genetics itself. Modern science has unlocked many of the mysteries of genetics, providing a blueprint for understanding the origins behind previously mysterious ailments and conditions, both common and uncommon. A complete understanding remains elusive, however: geneticists are still refining theories about what causes chromosomes to mutate, and genetic diseases remain difficult to diagnose and challenging to treat. This fascinating reference explores the scientific and human aspects of this complex field of science. Encyclopedia of Human Genetics and Disease features nearly 400 entries, including well-known genetic diseases, rare and lesser-known genetic diseases, and the genetic factors that may contribute to common diseases and health conditions, such as breast cancer and obesity. The author presents in-depth discussions of concepts essential to understanding genetic disease in 18 entries that provide background on key topics, such as "Genetics 101," the genome and the foundations of genetics, genetic counseling, and newborn screening. Each of the 355 disorders profiled provides the history of the condition, its prevalence, causes, treatment (if any), and further reading. Interesting sidebars and compelling photos that help inform content accompany many entries.