Genes Chromosomes And Disease From Simple Traits To Complex Traits To Personalized Medicine

This readable overview covers the rise of medical genetics through the past century, and the eugenic impulses it has inspired. Nicholas Gillham reviews the linkages between genes and disease; ethnic groups & rsquo; differential susceptibility to genetic traits and disorders; personalized medicine; and crucial social and ethical issues arising from the field & rsquo;s progress.

According to the National Institute of Health, a genome-wide association study is defined as any study of genetic variation across the entire human genome that is designed to identify genetic associations with observable traits (such as blood pressure or weight), or the presence or absence of a disease or condition. Whole genome information, when combined with clinical and other phenotype data, offers the potential for increased understanding of basic biological processes affecting human health, improvement in the prediction of disease and patient care, and ultimately the realization of the promise of personalized medicine. In addition, rapid advances in understanding the patterns of human genetic variation and maturing high-throughput, cost-effective methods for genotyping are providing powerful research tools for identifying genetic variants that contribute to health and disease. This burgeoning science merges the principles of statistics and genetics studies to make sense of the vast amounts of information available with the mapping of genomes. In order to make the most of the information available, statistical tools must be tailored and translated for the analytical issues which are original to large-scale association studies. Analysis of Complex Disease Association Studies will provide researchers with advanced biological knowledge who are entering the field of genome-wide association studies with the groundwork to apply statistical analysis tools appropriately and effectively. With the use of consistent examples throughout the work, chapters will provide readers with best practice for getting started (design), analyzing, and interpreting data according to their research interests. Frequently used tests will be highlighted and a critical analysis of the advantages and disadvantage complimented by case studies for each will provide readers with the information they need to make the right choice for their research. Additional tools including links to analysis tools, tutorials, and references will be available electronically to ensure the latest information is available. Easy access to key information including advantages and disadvantage of tests for particular applications, identification of databases, languages and their capabilities, data management risks, frequently used tests Extensive list of references including links to tutorial websites Case studies and Tips and Tricks

Biosocial Surveys analyzes the latest research on the increasing number of multipurpose household surveys that collect biological data along with the more familiar interviewerâ€"respondent information. This book serves as a follow-up to the 2003 volume, Cells and Surveys: Should Biological Measures Be Included in Social Science Research? and asks these questions: What have the social sciences, especially demography, learned from those efforts and the greater interdisciplinary communication that has resulted from them? Which biological or genetic information has proven most useful to researchers? How can better models be developed to help integrate biological and social science information in ways that can broaden scientific understanding? This volume contains a collection of 17 papers by distinguished experts in demography, biology, economics, epidemiology, and survey methodology. It is an invaluable sourcebook for social and behavioral science researchers who are working with biosocial data.

The human genome is a linear sequence of roughly 3 billion bases and information regarding this genome is accumulating at an astonishing rate. Inspired by these advances, The Human Genome in Health and Disease: A Story of Four Letters explores the intimate link between sequence information and biological function. A range of sequence-based functional units of the genome are discussed and illustrated with inherited disorders and cancer. In addition, the book considers valuable medical applications related to human genome sequencing, such as gene therapy methods and the identification of causative mutations in rare genetic disorders. The primary audiences of the book are students of genetics, biology, medicine, molecular biology and bioinformatics. Richly illustrated with review questions provided for each chapter, the book helps students without previous studies of genetics and molecular biology. It may also be of benefit for advanced non-academics, which in the era of personal genomics, want to learn more about their genome. Key selling features: Molecular sequence perspective, explaining the relationship between DNA sequence motifs and biological function Aids in understanding the functional impact of mutations and genetic variants Material presented at basic level, making it accessible to students without previous studies of genetics and molecular biology Richly illustrated with questions provided to each chapter

What can social science, and demography in particular, reasonably expect to learn from biological information? There is increasing pressure for multipurpose household surveys to collect biological data along with the more familiar interviewer-respondent information. Given that recent technical developments have made it more feasible to collect biological information in non-clinical settings, those who fund, design, and analyze survey data need to think through the rationale and potential consequences. This is a concern that transcends national boundaries. Cells and Surveys addresses issues such as which biologic/genetic data should be collected in order to be most useful to a range of social scientists and whether amassing biological data has unintended side effects. The book also takes a look at the various ethical and legal concerns that such data collection entails.

3 cutting-edge books reveal the latest genetic breakthroughs – and their implications for you, your health, and your world These three cutting-edge books reveal how modern genetics has already transformed the world – and will transform it again and again in the coming years. Mobile DNA book thoroughly reviews our current scientific understanding of the significant role that mobile genetic elements play in the evolution and function of genomes and organisms–from plants and animals to humans. Renowned geneticist Haig Kazazian offers an accessible intellectual history of the field’s research strategies and concerns, explaining how advances have opened up new questions, and how new tools and capabilities have encouraged still more progress. He introduces today’s key strategies for advancing the field, and previews long-term research strategies that may lead to even deeper insights. Next, in Investigating the Human Genome, leading medical genetics scholar Moyra Smith reviews current and recent work in genetics and genomics to assess progress in understanding human variation and the pathogenesis of common and rare diseases linked to genetics. You’ll discover how these advances are shedding new light on issues ranging from human origins to psychiatric disease, Alzheimer’s to epigenetics. Finally, in Genes, Chromosomes, and Disease, Nicholas Wright Gillham offers an exceptionally readable overview of the rise and transformations of medical genetics – and of the eugenic impulses that it has inspired. From world-renowned leaders and experts, including Haig H. Kazazian, Moyra Smith, and Nicholas Wright Gillham

Over the past century, we have made great strides in reducing rates of disease and enhancing people's general health. Public health measures such as sanitation, improved hygiene, and vaccines; reduced hazards in the workplace; new drugs and clinical procedures; and, more recently, a growing understanding of the human genome have each played a role in extending the duration and raising the quality of human life. But research conducted over the past few decades shows us that this progress, much of which was based on investigating one causative factor at a time—often, through a single discipline or by a narrow range of practitioners—can only go so far. Genes, Behavior, and the Social Environment examines a number of well-described gene-environment interactions, reviews the state of the science in researching such interactions, and recommends priorities not only for research itself but also for its workforce, resource, and infrastructural needs.

Anyone who has been diagnosed with breast cancer or knows someone who has been diagnosed with breast cancer recognizes that cancer raises a host of questions concerning its nature and how we treat it. Such questions frame the difficult decisions that patients must make about their treatment and care. Thinking Through Breast Cancer is a philosophical investigation of how breast cancer is described, explained, evaluated, and socialized in medicine. Written by a breast cancer survivor, the book interweaves personal experience with a systematic breakdown of key and highly pertinent philosophical concepts, and brings to light insights that emerge in metaphysics, epistemology, ethics, social and political philosophy, and bioethics. Further, it is an investigation of the ethical implications of understanding breast cancer. Cutter seamlessly combines clinical information with philosophical analysis and makes recommendations as to how we can navigate the complex and, at times, uncertain terrain of breast cancer knowledge and care. In this way, the book is not simply a survey of what we know about breast cancer, but a personal search for guidance about navigating the complex, confusing, and frightening terrain of breast cancer diagnosis, treatment, and survival.