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What are genes? What do genes do? These questions are not simple and straightforward to answer; at the same time, simplistic answers are quite prevalent and are taken for granted. This book aims to explain the origin of the gene concept, its various meanings both within and outside science, as well as to debunk the intuitive view of the existence of 'genes for' characteristics and disease. Drawing on contemporary research in genetics and genomics, as well as on ideas from history of science, philosophy of science, psychology and science education, it explains what genes are and what they can and cannot do. By presenting complex concepts and research in a comprehensible and rigorous manner, it examines the potential impact of research in genetics and genomics and how important genes actually are for our lives. Understanding Genes is an accessible and engaging introduction to genes for any interested reader.
The #1 NEW YORK TIMES Bestseller The basis for the PBS Ken Burns Documentary The Gene: An Intimate History Now includes an excerpt from Siddhartha Mukherjee’s new book Song of the Cell! From the Pulitzer Prize–winning author of The Emperor of All Maladies—a fascinating history of the gene and “a magisterial account of how human minds have laboriously, ingeniously picked apart what makes us tick” (Elle). “Sid Mukherjee has the uncanny ability to bring together science, history, and the future in a way that is understandable and riveting, guiding us through both time and the mystery of life itself.” —Ken Burns “Dr. Siddhartha Mukherjee dazzled readers with his Pulitzer Prize-winning The Emperor of All Maladies in 2010. That achievement was evidently just a warm-up for his virtuoso performance in The Gene: An Intimate History, in which he braids science, history, and memoir into an epic with all the range and biblical thunder of Paradise Lost” (The New York Times). In this biography Mukherjee brings to life the quest to understand human heredity and its surprising influence on our lives, personalities, identities, fates, and choices. “Mukherjee expresses abstract intellectual ideas through emotional stories…[and] swaddles his medical rigor with rhapsodic tenderness, surprising vulnerability, and occasional flashes of pure poetry” (The Washington Post). Throughout, the story of Mukherjee’s own family—with its tragic and bewildering history of mental illness—reminds us of the questions that hang over our ability to translate the science of genetics from the laboratory to the real world. In riveting and dramatic prose, he describes the centuries of research and experimentation—from Aristotle and Pythagoras to Mendel and Darwin, from Boveri and Morgan to Crick, Watson and Franklin, all the way through the revolutionary twenty-first century innovators who mapped the human genome. “A fascinating and often sobering history of how humans came to understand the roles of genes in making us who we are—and what our manipulation of those genes might mean for our future” (Milwaukee Journal-Sentinel), The Gene is the revelatory and magisterial history of a scientific idea coming to life, the most crucial science of our time, intimately explained by a master. “The Gene is a book we all should read” (USA TODAY).
Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches, a new volume in the Translational and Applied Genomics series, offers readers a broad understanding of current knowledge on rare diseases through a genomics lens. This clear understanding of the latest molecular and genomic technologies used to elucidate the molecular causes of more than 5,000 genetic disorders brings readers closer to unraveling many more that remain undefined and undiscovered. The challenges associated with performing rare disease research are also discussed, as well as the opportunities that the study of these disorders provides for improving our understanding of disease architecture and pathophysiology. Leading chapter authors in the field discuss approaches such as karyotyping and genomic sequencing for the better diagnosis and treatment of conditions including recessive diseases, dominant and X-linked disorders, de novo mutations, sporadic disorders and mosaicism. - Compiles applied case studies and methodologies, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes - Discusses the main challenges in studying the genetics of rare diseases through genomic approaches and possible or ongoing solutions - Explores opportunities for novel therapeutics - Features chapter contributions from leading researchers and clinicians
A New Way of Looking at Power at Work Who hasn’t left the office after a particularly frustrating day wondering what they could have done to turn a negative experience into a positive one? Perhaps it was a difficult conversation with a domineering boss, or an encounter with a know-it-all peer who made you feel insecure. Would you believe the way you react to these interactions likely stems from the dynamics you experienced as a child? Could it be that your childhood persona has grown into your power persona at work? In Power Genes, executive coach Maggie Craddock reveals how to kick those old habits—trying too hard to please, acting out, using manipulative methods of persuasion—and tells how to use power more effectively to advance your career. Craddock identifies four power types and explains how to diagnose yours: • The Pleaser—you make others feel good about themselves but need constant validation and approval from them • The Charmer—you draw others in with your charm, yet trust is your Achilles heel • The Commander—you take charge of the situation and gain admiration from others, but fear any loss of control • The Inspirer—you are star power in action, yet your vision for the future can derail the needs of workers right now The book outlines a process for avoiding your type’s signature destructive reflexes and replacing them with new behaviors—helping you to interact productively with other people in the office. By showing you how to recognize your type’s blind spots and then recondition your actions, Power Genes will give you the insights and action plan you need to become a more consistently powerful professional. It’s time to throw out unproductive habits and take charge of your workplace relationships.
There is growing enthusiasm in the scientific community about the prospect of mapping and sequencing the human genome, a monumental project that will have far-reaching consequences for medicine, biology, technology, and other fields. But how will such an effort be organized and funded? How will we develop the new technologies that are needed? What new legal, social, and ethical questions will be raised? Mapping and Sequencing the Human Genome is a blueprint for this proposed project. The authors offer a highly readable explanation of the technical aspects of genetic mapping and sequencing, and they recommend specific interim and long-range research goals, organizational strategies, and funding levels. They also outline some of the legal and social questions that might arise and urge their early consideration by policymakers.
Advances in genetics and genomics are transforming medical practice, resulting in a dramatic growth of genetic testing in the health care system. The rapid development of new technologies, however, has also brought challenges, including the need for rigorous evaluation of the validity and utility of genetic tests, questions regarding the best ways to incorporate them into medical practice, and how to weigh their cost against potential short- and long-term benefits. As the availability of genetic tests increases so do concerns about the achievement of meaningful improvements in clinical outcomes, costs of testing, and the potential for accentuating medical care inequality. Given the rapid pace in the development of genetic tests and new testing technologies, An Evidence Framework for Genetic Testing seeks to advance the development of an adequate evidence base for genetic tests to improve patient care and treatment. Additionally, this report recommends a framework for decision-making regarding the use of genetic tests in clinical care.
"Collecting a family medical history is a regular component of the nursing assessment process that often includes information on familial cancer diagnoses, and patients may fear that they or their loved ones might be at increased risk for developing cancer because of hereditary factors. Although true inherited risk for developing cancer is much less common than acquired risk for developing cancer, approximately 10% of cancer diagnoses can be attributed to inherited risk. The identification of families exhibiting hereditary cancer syndromes enables individuals at risk to engage in increased surveillance and, in some cases, risk-reducing surgery and other preventive measures, which ultimately lead to decreasing the morbidity and mortality associated with a cancer diagnosis. The role of the nurse in helping patients to understand and manage hereditary cancer risk requires specialized knowledge of genetics and genomics concepts. Understanding Genomic and Hereditary Cancer Risk: A Handbook for Oncology Nurses provides background on basic genetic and genomic concepts, particularly those related to hereditary risk for developing cancer, to aid nurses in knowing when and why to refer patients. It also provides reliable information about how and why genetic and genomic testing can both aid in treatment decisions and also guide recommendations for cancer prevention and early detection. The nurse's role in genetic testing and counseling are discussed, as are questions and answers about types of testing, including direct-to-consumer genetic testing. Following genetic testing, most genetics professionals provide detailed information about recommendations for care, including recommendations for ongoing prevention and early detection. For patients who are found to have a harmful mutation, these recommendations can be extensive and are based on the personal and family medical history, as well as the specific variant. This book provides quick overviews of many of the more common hereditary variants as well as resources for more information. This handbook provides nurses with the essentials to understand genomic and hereditary cancer risk, to assist in facilitating interprofessional care with genetics and other oncology professionals, and to provide their patients with accurate and reassuring information"--
Science need not be dull and bogged down by jargon, as Richard Dawkins proves in this entertaining look at evolution. The themes he takes up are the concepts of altruistic and selfish behaviour; the genetical definition of selfish interest; the evolution of aggressive behaviour; kinshiptheory; sex ratio theory; reciprocal altruism; deceit; and the natural selection of sex differences. 'Should be read, can be read by almost anyone. It describes with great skill a new face of the theory of evolution.' W.D. Hamilton, Science
It has been recognized for almost 200 years that certain families seem to inherit cancer. It is only in the past decade, however, that molecular genetics and epidemiology have combined to define the role of inheritance in cancer more clearly, and to identify some of the genes involved. The causative genes can be tracked through cancer-prone families via genetic linkage and positional cloning. Several of the genes discovered have subsequently been proved to play critical roles in normal growth and development. There are also implications for the families themselves in terms of genetic testing with its attendant dilemmas, if it is not clear that useful action will result. The chapters in The Genetics of Cancer illustrate what has already been achieved and take a critical look at the future directions of this research and its potential clinical applications.
The language of genes has become common parlance. We know they make your eyes blue, your hair curly or your nose straight. The media tells us that our genes control the risk of cancer, heart disease, alcoholism or Alzheimer's. The cost of DNA sequencing has plummeted from billions of pounds to a few hundred, and gene-based advances in medicine hold huge promise. So we've all heard of genes, but how do they actually work? There are 2.2 metres of DNA inside every one of your cells, encoding roughly 20,000 genes. These are the 'recipes' that tell our cells how to make the building blocks of life, along with myriad control switches ensuring they're turned on and off at the right time and in the right place. But rather than a static string of genetic code, this is a dynamic, writhing biological library. Figuring out how it all works – how your genes build your body – is a major challenge for researchers around the world. And what they're discovering is that far from genes being a fixed, deterministic blueprint, things are much more random and wobbly than anyone expected. Drawing on stories ranging from six toed cats and stickleback hips to Mickey Mouse mice and zombie genes – told by researchers working at the cutting edge of genetics – Kat Arney explores the mysteries in our genomes with clarity, flair and wit, creating a companion reader to the book of life itself.