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Short-listed for the Society of Biology Book Award 2014 Long-listed for the Royal Society Winton prize for science books 2014 In The Compatibility Gene, leading scientist Daniel M Davis tells the story of the crucial genes that define our relationships, our health and our individuality. We each possess a similar set of around 25,000 human genes. Yet a tiny, distinctive cluster of these genes plays a disproportionately large part in how our bodies work. These few genes, argues Davis, hold the key to who we are as individuals and our relationship to the world: how we combat disease, how our brains are wired, how attractive we are, even how likely we are to reproduce. The Compatibility Gene follows the remarkable history of these genes' discovery. From the British scientific pioneers who struggled to understand the mysteries of transplants to the Swiss zoologist who devised a new method of assessing potential couples' compatibility based on the smell of worn T-shirts, Davis traces a true scientific revolution in our understanding of the human body: a global adventure spanning some sixty years. 'Unusual results, astonishing implications and ethical dilemmas' The Times 'Packed with an insider's knowledge' New York Times 'He makes immunology as fascinating to popular science readers as cosmology, consciousness, and evolution' Steven Pinker 'An elegantly written, unexpectedly gripping account' Bill Bryson Guardian, Books of the Year Daniel M Davis is director of research at the University of Manchester's Collaborative Centre for Inflammation Research and a visiting professor at Imperial College, London. He has published over 100 academic articles, including papers in Nature and Science, and Scientific American. He has won the Oxford University Press Science Writing Prize and given numerous interviews for national and international media. He was elected a Fellow of the Academy of Medical Sciences in 2011.
Thoroughly updated and incorporating the most important advances in the fast-growing field of cancer biology, The Biology of Cancer, Second Edition, maintains all of its hallmark features admired by students, instructors, researchers, and clinicians around the world. The Biology of Cancer is a textbook for students studying the molecular and cellular bases of cancer at the undergraduate, graduate, and medical school levels. The principles of cancer biology are presented in an organized, cogent, and in-depth manner. The clarity of writing, supported by an extensive full-color art program and numerous pedagogical features, makes the book accessible and engaging. The information unfolds through the presentation of key experiments that give readers a sense of discovery and provide insights into the conceptual foundation underlying modern cancer biology. The new Second Edition has been comprehensively revised and updated to include major advances in cancer biology over the past six years. Updates include current information on: The tumor microenvironment Metastatic dissemination Tumor immunology Cancer stem cells The epithelial-mesenchymal transition Multi-step tumorigenesis Invasion and metastasis Mutation of cancer cell genomes Greatly expanded treatment of traditional therapy Epigenetic contributions MicroRNA involvement The Warburg effect Besides its value as a textbook, The Biology of Cancer is a useful reference for individuals working in biomedical laboratories and for clinical professionals. Every copy of the book comes with an updated "Pathways in Human Cancer" poster and a DVD-ROM containing the book's art program, a greatly expanded selection of movies, audio file mini-lectures, Supplementary Sidebars, and a Media Guide.
Everything you need to know about race (but were afraid to ask). In academic journals and on internet message boards, certain scientists and thinkers are laying siege to one of the great taboos. Could it be, they ask, that racism has a rational basis in science? These ideas are no longer limited to the fringe: race-based studies of intelligence have been discussed by thinkers such as Steven Pinker, Sam Harris and Jordan Peterson. If true, it would provide an intellectual foundation for so many of the attitudes that characterise the right wing, justifying inequality and discrimination. Gavin Evans tackles the nature vs nurture debate head-on, examining the latest studies on how intelligence develops and laying out new discoveries in genetics, palaeontology, archaeology and anthropology to unearth the truth about our shared past. In doing so, Skin Deep demolishes the pernicious myth that our race is our destiny, and instead reveals what really makes us who we are.
Filaggrin proteins are expressed in several human tissues, including the skin, oral mucosa, conjunctivae, esophagus, cervix, and testes. While filaggrin guarantees both structural and functional normality of the human epidermis, its role in other tissues is largely unknown. Epidermal deficiency of filaggrin causes dry and scaly skin, but also strongly increases the risk of skin diseases, in particular ichthyosis vulgaris and atopic dermatitis. Importantly, the risk of related asthma, hay fever, and food allergy is also increased although filaggrin is not expressed in the airways and gastrointestinal tract. Common FLG mutations, leading to reduced filaggrin expression, have mainly been identified in Europeans and Asians, reaching a prevalence of 5-10%. Even in the absence of atopic dermatitis, the skin of individuals with FLG mutations differs fundamentally from normal skin, for example by generating more vitamin D and allowing chemicals and allergens to more widely penetrate across the stratum corneum. This textbook provides comprehensive and detailed coverage of the effects of filaggrin and filaggrin gene (FLG) mutations in health and disease (cutaneous and non-cutaneous) and also discusses the basic science, epidemiology, management, and future research areas. It will be of value to scientists and clinicians from different specialties.
Easy to read, yet comprehensive, this is the perfect introduction into the molecular basis of disease and the novel treatment options that have become available. The authors, Jens Kurreck and Cy Stein, have both long-standing teaching experience on the subject, one from a biologist's angle, the other with a medical background. Together, they have produced a modern textbook for courses in Molecular Medicine that incorporates modules from immunology to signaling, from virology to gene therapy, and the latest development in personalized medicine.
Essential medical facts on over 2,000 genetic syndromes. Organized alphabetically, this book provides comprehensive medical coverage for each syndrome, from genetic basis to manifestations to related medical considerations. Features anesthetic considerations for each syndrome as well as 180 illustrations and an easily accessible standardized, two-column format.
Almost daily we hear news stories, advertisements, and scientific reports that promise genetic medicine will make us live longer, enable doctors to identify and treat diseases before they start, and individualize our medical care. But surprisingly, a century ago eugenicists were making the same promises. The Science of Human Perfection traces the history of the promises of medical genetics and of the medical dimension of eugenics. The book also considers social and ethical issues that cast troublesome shadows over these fields. Keeping his focus on America, science historian Nathaniel Comfort introduces the community of scientists, physicians, and public health workers who have contributed to the development of medical genetics from the nineteenth century to today. He argues that medical genetics is closely related to eugenics, and indeed the two cannot be fully understood separately. He also carefully examines how the desire to relieve suffering and to improve ourselves genetically, though noble, may be subverted. History makes clear that as patients and consumers we must take ownership of genetic medicine, using it intelligently, knowledgeably, and sceptically, lest pernicious interests trump our own.
Written by leading experts in the fields of pediatrics, orthopedic surgery and plastic and reconstructive hand surgery, Congenital Anomalies of the Upper Extremity encompasses the current knowledge of genetic and molecular causes of and surgical and non-surgical treatment for, deformities of the hand. The book covers the many variations of congenital anomaly encountered in the clinical setting. Embryology, classification, incidence and anesthesia considerations are discussed first, followed by physical medicine, rehabilitation and therapy management, including psychological considerations, for children living with these conditions. Failures of formation and differentiation of the fingers and hand plate, duplication, and overgrowth, as well as other generalized anomalies, are then presented in detail, including symbrachydactyly, syndactyly, Apert syndrome, polydactyly, amniotic band syndrome and Madelung deformity, among others. Complete with plentiful photographs and illustrations to guide the clinician in preparing for and performing the necessary treatments, this is an essential book for hand surgeons, orthopedists and plastic surgeons.
This first title on the topic provides complete coverage, including the molecular basis, production and possible biomedical applications. Written by the most prominent academic researchers in the field as well as by researchers at one of the world's leading companies in industrial production of minicircle DNA, this practical book is aimed at everyone who is directly or indirectly involved in the development of gene therapies.
The analysis and interpretation of data is fundamental to the subject of genetics and forms a compulsory part of the undergraduate genetics curriculum. Indeed, the key skills that a genetics student requires are an ability to design and understand experimental strategies and to use problem-solving skills to interpret experimental results and data. Genetics? No Problem! provides students with a graded set of problems that aim to enthuse, challenge and entertain the reader. The book is divided into three sections introductory; intermediate and advanced each with 10 problems. For first level students there will be short genetics problems embedded in a wide range of scenarios, such as murder mysteries. As the book progresses, the stories will get longer and the science will get progressively more complex to challenge final year students and enable the reader to identify genetic disease in obscure organisms as well as designing and testing treatments and cures. Genetics? No Problem!: * Takes a unique, innovative approach that provides students with a set of graded problems designed to develop both their skills, and their ability to tackle problems with confidence * Includes problems embedded in a narrative, written in an interesting, informative and entertaining style by an Author with a proven track record in teaching, research and communication * Is well illustrated in full colour throughout. The book will prove invaluable to all students of genetics across a range of disciplines needing to get to grips with the analysis and interpretation of data that is fundamental to the subject.
The untold story of how hereditary data in mental hospitals gave rise to the science of human heredity In the early 1800s, a century before there was any concept of the gene, physicians in insane asylums began to record causes of madness in their admission books. Almost from the beginning, they pointed to heredity as the most important of these causes. As doctors and state officials steadily lost faith in the capacity of asylum care to stem the terrible increase of insanity, they began emphasizing the need to curb the reproduction of the insane. They became obsessed with identifying weak or tainted families and anticipating the outcomes of their marriages. Genetics in the Madhouse is the untold story of how the collection and sorting of hereditary data in mental hospitals, schools for "feebleminded" children, and prisons gave rise to a new science of human heredity. In this compelling book, Theodore Porter draws on untapped archival evidence from across Europe and North America to bring to light the hidden history behind modern genetics. He looks at the institutional use of pedigree charts, censuses of mental illness, medical-social surveys, and other data techniques--innovative quantitative practices that were worked out in the madhouse long before the manipulation of DNA became possible in the lab. Porter argues that asylum doctors developed many of the ideologies and methods of what would come to be known as eugenics, and deepens our appreciation of the moral issues at stake in data work conducted on the border of subjectivity and science. A bold rethinking of asylum work, Genetics in the Madhouse shows how heredity was a human science as well as a medical and biological one.
Designed as an aid to students in Genetics counseling classes and professionals interested in honing their skills, Facilitating the Genetic Counseling Process will guide the reader through the why's and how's of assisting clients with these complex issues. The authors' collective years of both teaching students and counseling clients is reflected in the clear, practical approach of this manual.
The manner in which genetic research associated with addiction is conducted, interpreted and translated into clinical practice and policy initiatives raises important social, ethical and legal issues. Genetic Research on Addiction fulfils two key aims; the first is to identify the ethical issues and requirements arising when carrying out genetically-based addiction research, and the second is to explore the ethical, legal and public policy implications of interpreting, translating and applying this research. The book describes research guidelines on human protection issues such as improving the informed consent process, protecting privacy, responsibilities to minors and determining whether to accept industry funding. The broader public health policy implications of the research are explored and guidelines offered for developing effective social interventions. Highly relevant for clinicians, researchers, academics and policy-makers in the fields of addiction, mental health and public policy.
This book combines sex, race, health and genetics in a daring new theory. Written with accessible, direct prose, anecdotes, analogies, and examples from human and animal studies, it is sure to spark debate in a massive way.
"Batch Effects and Noise in Microarray Experiments: Sources and Solutions" looks at the issue of technical noise and batch effects in microarray studies and illustrates how to alleviate such factors whilst interpreting the relevant biological information.
Each chapter focuses on sources of noise and batch effects before starting an experiment, with examples of statistical methods for detecting, measuring, and managing batch effects within and across datasets provided online. Throughout the book the importance of standardization and the value of standard operating procedures in the development of genomics biomarkers is emphasized.
A thorough introduction to Batch Effects and Noise in Microrarray Experiments.A unique compilation of review and research articles on handling of batch effects and technical and biological noise in microarray data.An extensive overview of current standardization initiatives.All datasets and methods used in the chapters, as well as colour images, are available on www.the-batch-effect-book.org, so that the data can be reproduced.
An exciting compilation of state-of-the-art review chapters and latest research results, which will benefit all those involved in the planning, execution, and analysis of gene expression studies.
A Primer of Human Genetics is an introductory textbook designed to give students the foundation they need to understand and appreciate the extraordinary shifts in human genetics that have accompanied the arrival of genomics. The book lays out the key concepts of human evolution, quantitative genetics, and personalized medicine before describing the tools that are missing from most contemporary textbooks: genome-wide association studies, whole-genome resequencing, gene expression and epigenome profiling, and integrative genomics. The final section provides an up-to-date survey of specific findings in six major domains of human disease: immunological, metabolic, cardiovascular, cancer, neuropsychological, and aging disorders. After reading this textbook, not only will students be better equipped to read current literature, they will gain a sense of the impact that the revolution in genomics has had for our understanding of the human condition, as well as of the major trends in human genetics research. Students are assumed to have a core understanding of genetics such as would be obtained in a general genetics class. Each chapter is approximately 20 pages long, and organized under up to ten sub-headings, most of which incorporate an illustrative figure. Chapter summary points recap the key messages, and references point students to key reviews and contemporary highlights. Several of the chapters contain a single box, which provides extra material on topics such as 'Consent and Responsible Conduct of Research' and 'Methylation Analysis in Biology.'
"Adopted at Cambridge University"
Essential Medical Genetics provides students, clinicians, counsellors and scientists with the up-to-date information they need regarding the basic principles underlying medical genetics. It also provides guidance on how to apply current knowledge in clinical contexts, covering a wide variety of topics: from genome structure and function to mutations, screening and risk assessment for inherited disorders.
This sixth edition has been substantially updated to include, for instance, the latest information on the Human Genome Project as well as several new molecular genetic and chromosome analysis techniques. In full colour throughout, it includes a number of brand new features, including: a large number of self-assessment questions; 'Essentials' chapter summaries; further reading suggestions; and case study scenarios introducing clinical situations. An invaluable new section gives illustrated practical advice regarding how to choose the best available online genetic databases and also, importantly, how to most easily and most efficiently use them, for a wide range of purposes.
"Essential Medical Genetics" is the perfect resource for a course on medical genetics, and is now accompanied by a regularly updated website and the FREE enhanced Wiley Desktop Edition (upon purchase of the book).
The companion website at www.wiley.com/go/tobias features figures from the book in PowerPoint format and a link to the authors' website with regularly updated links to genetic databases and additional self-test questions.
This is a completely revised edition of a comprehensive and popular introduction to the fast moving area of Forensic Genetics. The text begins with key concepts needed to fully appreciate the subject and moves on to examine the latest developments in the field. Now illustrated in full colour throughout, this accessible textbook includes numerous references to relevant casework. With information on the full process of DNA evidence from collection at the scene of a crime to presentation in a legal context this book provides a complete overview of the field.
Key Features: Greater in-depth coverage of kinship problems now covered in two separate chapters: one dealing with relationships between living individuals and the other covering identification of human remains. New chapter on non-human forensic genetics, including identification of bacteria and viruses, animals and plants. Self assessment questions to aid student understanding throughout the text. Now with full colour illustrations throughout New companion website Accessible introduction to forensic genetics, from the collection of evidence to the presentation of evidence in a legal context.
Included in the Forensic Science Society 'Essentials in Forensic Science' book series. This edition is to be included in the Forensic Science Society 'Essentials of Forensic Science' book series aimed at advanced level undergraduates and new practitioners to the field.
In 2001 the Human Genome Project succeeded in mapping the DNA of humans. This landmark accomplishment launched the field of genomics, the integrated study of all the genes in the human body and the related biomedical interventions that can be tailored to benefit a person's health. Today genomics, part of a larger movement toward personalized medicine, is poised to revolutionize health care. By cross-referencing an individual's genetic sequence - their genome - against known elements of "Big Data," elements of genomics are already being incorporated on a widespread basis, including prenatal disease screening and targeted cancer treatments. With more innovations soon to arrive at the bedside, the promise of the genomics revolution is limitless. This entry in the What Everyone Needs to Know series offers an authoritative resource on the prospects and realities of genomics and personalized medicine. As this science continues to alter traditional medical paradigms, consumers are faced with additional options and more complicated decisions regarding their health care. This book provides the essential information everyone needs.
This book, combining and updating two previous editions, is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for both clinicians and laboratory personnel. Reference laboratory data are scattered, and clinical descriptions may be obscure. The "Physician s Guide "documents the features of more than five hundred conditions, grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). Relevant clinical findings are provided and pathological values for diagnostic metabolites highlighted. Guidance on appropriate biochemical genetic testing is provided. Established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book will be a valuable desk reference for all who deal with inherited metabolic diseases."
The Handbook of Nanotoxicology, Nanomedicine and Stem Cell Use in Toxicology provides an insight into the current trends and future directions of research in these rapidly developing scientific fields. Written by leading scientists and experts, the Handbook will be of interest to various scientific disciplines including toxicology, medicine, and pharmacology, as well as food, drug, and other regulatory sciences.
This book offers a comprehensive overview of medullary thyroid carcinoma, both in the more common sporadic form and in the familial form, multiple endocrine neoplasia (MEN) types 2A and 2B. The coverage includes, but is not limited to, molecular biology and genetics, pathology, clinical presentation, imaging techniques, surgical treatment, and follow-up. The role of calcitonin as a highly sensitive and specific tumor marker for the screening, diagnosis, and follow-up of MTC and metastatic disease is described, and the significance of other tumor markers is also considered. With regard to treatment, the use of thyroidectomy is fully discussed, including in children carrying the mutations in the RET proto-oncogene considered causative for MEN 2. Additionally, the value of tyrosine kinase inhibitors as the most effective treatment modality in patients with a large tumor burden or rapid tumor growth, or both, is explained. Medullary Thyroid Carcinoma and Multiple Endocrine Neoplasia Type 2 will be an ideal source of up-to-date information for a wide range of practitioners, including endocrinologists, oncologists, internal medicine specialists, geneticists, and nuclear medicine physicians.
This issue of Recent Results in Cancer Research presents a comprehensive review of current understanding of chromosomal instability in cancer and of strategies to use this information for better treatment of patients with cancer. Cancer is a disease of the chromosomes, and chromosomal instability in cancer disrupts gene function by either inactivating tumor suppressor genes or activating growth-promoting oncogenes. The chromosomal basis for these aberrations is either translocations, which change the integrity of genes, or abnormal numbers of chromosomes, a condition referred to as aneuploidy, which results in abnormal gene expression levels. Such structural or numerical chromosomal aberrations are specific for distinct tumor entities. The degree of chromosomal instability and the degree of intratumor heterogeneity have profound consequences for disease outcome and for therapeutic stratification.
With Genetics: A Conceptual Approach, Ben Pierce brings a master teacher's experiences to the introductory genetics textbook, clarifying this complex subject by focusing on the big picture of genetics concepts and how those concepts connect to one another.
The new edition continues the Pierce tradition of pedagogical excellence and scientific currency.
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