Bacterial Artificial Chromosomes, Second Edition expands upon the previous edition with current, detailed methods developed for working with BACs. Updated chapters included in this edition present fundamental techniques used for BAC construction and characterization, advanced procedures for introducing modifications, achieving gene expression from BAC vectors, applications of BACs in model organisms, and medical genetics and drug discovery. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step reproducible laboratory protocols, and tips to troubleshoot and avoid known pitfalls. Authoritative and cutting-edge, Bacterial Artificial Chromosomes, Second Edition seeks to aid scientists in advancing their research using these exciting BAC techniques and strategies.

Biobanking, i.e. storage of biological samples or data emerging from such samples for diagnostic, therapeutic or research purposes, has been going on for decades. However, it is only since the mid 1990s that these activities have become the subject of considerable public attention, concern and debate. This shift in climate is due to several factors. The purpose of this book is to investigate some of the ethical, legal and social challenges raised by research biobanking in its different modern forms and formats. The issues raised by research biobanking in its modern form can be divided into four main clusters: how biological materials are entered into the bank; research biobanks as institutions; under what conditions researchers can access materials in the bank, and problems concerning ownership of biological materials and of intellectual property arising from such materials; and how the information is collected and stored, e.g. access-rights, disclosure, confidentiality, data security and data protection.

Strategies or decisions aimed at affecting, in a manner considered to be positive, the genetic heritage of a child in the context of human reproduction are increasingly being accepted in contemporary society. As a result, unnerving similarities between earlier selection ideology so central to the discredited eugenic regimes of the 20th century and those now on offer suggest that a new era of eugenics has dawned. The time is ripe, therefore, for considering and evaluating from an ethical perspective both current and future selection practices. This inter-disciplinary volume blends research from embryology, genetics, philosophy, sociology, psychology, and history. In so doing, it constructs a thorough picture of the procedures emerging from today's reproductive developments, including a rigorous ethical argumentation concerning the possible advantages and risks related to the new eugenics.

This volume explores a broad range of different genotyping techniques. Genotyping: Methods and Protocols consists of chapters that cover numerous topics such as: an overview of multiplexed microsatellite analysis; High Resolution Melt analysis and TaqMan-based assays; in situ analysis of variants in single RNA molecules; the MassARRAY system and Molecular Inversion Probes; Pulsed Field Gel Electrophoresis, Paralogue Ratio Test, and Multiplex Ligation-Dependent Probe Amplification; long-range PCR combined with PacBio sequencing; Targeted Locus Amplification; Multilocus Sequence Typing and rapid SNP detection with pyrosequencing; and genotyping-by-sequencing for plant analysis. Finally, the volume concludes with a summary of pertinent points to describe genetic variation. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Thorough and practical, Genotyping: Methods and Protocols is a valuable resource for anyone interested in learning more about the diverse field of genotyping.

Psychopathy: The Basics is an accessible text that provides a compact introduction to the major findings and debates concerning this complex personality disorder. The book provides an overview of the field and covers a wide range of research findings from genetics to psychosocial developmental explanations. It begins with an exploration of the historical conception of the phenomenon of psychopathy and goes on to discuss its social and cultural accounts. It also delves into biologically based explanations including genetic and evolutionary approaches along with criminological and entrepreneurial types of psychopathy. Offering a balanced perspective, the book addresses the nature-nurture debate in the field and also discusses widely accepted personality traits of psychopaths. Lastly, it also provides a glossary of key terms and suggestions for further reading This text will be an essential read for students of forensic psychology, or criminology. It is also an ideal starting point for those interested in the science of psychopathy and personality disorders.

Anthony Killeen, MD, PhD, offers a comprehensive yet concise introduction to molecular pathology that encompasses both applied and theoretical knowledge. Writing in a very readable style, the author reviews the basic concepts of human molecular biology, explains the principles of the most commonly used analytical methods, and discusses the molecular principles that underlie both inherited diseases and acquired genetic abnormalities that lead to cancer. Using common viral infections as examples, the book applies these molecular methods to the detection of microbial pathogens. The growing importance of pharmacogenetics and identity testing in the clinical laboratory is also highlighted.

Heredity, either alone or in combination with environmental factors, is the most prominent underlying cause of hearing impairment. Thanks in large part to positional cloning techniques, scientists have identified nearly 100 gene loci implicated in hearing loss since 1995-an extraordinarily rapid rate of gene identification. Genetic Hearing Loss branches into syndromic and nonsyndromic categorical directions in its coverage of the genetics behind hearing loss. Authored by 60 internationally recognized researchers, the book describes the normal development of the ear, updates the classification and epidemiology of hearing loss, and surveys the usage of audiometric tests and diagnostic medical examinations.

How scientific advances in genetic modification will fundamentally change the natural world The process of manipulating the genetic material of one animal to include the DNA of another creates a new transgenic organism. Several animals, notably goats, mice, sheep, and cattle are now genetically modified in this way. In Our Transgenic Future, Lisa Jean Moore wonders what such scientific advances portend. Will the natural world become so modified that it ceases to exist? After turning species into hybrids, can we ever get back to the original, or are they forever lost? Does genetic manipulation make better lives possible, and if so, for whom? Moore centers the story on goats that have been engineered by the US military and civilian scientists using the DNA of spiders. The goat's milk contains a spider-silk protein fiber; it can be spun into ultra-strong fabric that can be used to manufacture lightweight military body armor. Researchers also hope the transgenically produced spider silk will revolutionize medicine with biocompatible medical inserts such as prosthetics and bandages. Based on in-depth research with spiders in Florida and transgenic goats in Utah, Our Transgenic Future focuses on how these spidergoats came into existence, the researchers who maintain them, the funders who have made their lives possible, and how they fit into the larger science of transgenics and synthetics. This book is a fascinating story about the possibilities of science and the likely futures that may come.

This title reviews current knowledge of the mechanisms contributing to heart failure. Editor Richard Walsh and an internationally renowned team of contributors discuss key advances in molecular and cell biology, biochemistry, and pharmacology, focusing on advances that have a direct bearing on current clinical studies. It highlights developments across a broad range of disciplines, with in-depth coverage of each topic providing background and perspective on current literature. By setting new advances in a broader context, this text allows readers to compare different ideas and evaluate their importance in their own areas of research or clinical practice.

Genetics is fundamental to hearing function, and an understanding of genetics enhances both auditory research and the clinical treatment of the hearing impaired. Approaches to the diagnosis and treatment of hearing impairment have developed from technological advances in genetic research. This volume covers gene expression, mutations, mapping and cloning, as well as mitochondrial and cellular genetics. Chapters are also included on the uses of mouse models, genetic epidemiology and genetic counseling specifically for hearing impairment. As a comprehensive review of the genetics of hearing, this book will interest hearing researchers, clinicians and genetic counselors.

The first comprehensive attempt to explore the issues raised by genetic counselling across cultures. It will be of interest to health professionals and to students and lecturers in the social, behavioural and political sciences and in genetics, medicine and nursing. The meaning and relevance of kinship and ethnicity in the context of genetic disease, cultural issues that have arisen in practice, including the influence of the lay public's beliefs about inheritance and the wider social and political context of genetics and genetic disease are all explored in depth.

Juxtaposing contributions from geneticists and anthropologists, this volume provides a contemporary overview of cousin marriage and what is happening at the interface of public policy, the management of genetic risk and changing cultural practices in the Middle East and in multi-ethnic Europe. It offers a cross-cultural exploration of practices of cousin marriage in the light of new genetic understanding of consanguineous marriage and its possible health risks. Overall, the volume presents a reflective, interdisciplinary analysis of the social and ethical issues raised by both the discourse of risk in cousin marriage, as well as existing and potential interventions to promote "healthy consanguinity" via new genetic technologies.

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 valuable handbook provides a detailed step-by step solution or lengthy discussion for every problem in the text. The handbook also features additional study aids, including extra study problems, chapter outlines, vocabulary exercises, and an overview of how to study genetics.

There is a new trend in anti-cancer therapeutics development: a targeted therapy and precision medicine that targets a subgroup of patients with specific biomarkers. An in vitro diagnostic (IVD) assay is required to identify a subgroup of cancer patients who would benefit from the targeted therapy, or not likely benefit, or have a high risk of side effects from the specific drug treatment. This IVD or medical device is called a companion diagnostic (CDx) assay. It is key to have a robust CDx assay or device for the success of targeted therapy and precision medicine. This book covers the technical, historical, clinical, and regulatory aspects of CDx in precision medicine. Clearly, more and more newly developed oncology drugs will require accompanying CDx assays, and this book, with chapters contributed by renowned oncologists, provides a comprehensive foundation for the knowledge and application of CDx for precision medicine.

Strategies or decisions aimed at affecting, in a manner considered to be positive, the genetic heritage of a child in the context of human reproduction are increasingly being accepted in contemporary society. As a result, unnerving similarities between earlier selection ideology so central to the discredited eugenic regimes of the 20th century and those now on offer suggest that a new era of eugenics has dawned. The time is ripe, therefore, for considering and evaluating from an ethical perspective both current and future selection practices. This inter-disciplinary volume blends research from embryology, genetics, philosophy, sociology, psychology, and history. In so doing, it constructs a thorough picture of the procedures emerging from today's reproductive developments, including a rigorous ethical argumentation concerning the possible advantages and risks related to the new eugenics.

Calum MacKellar is Director of Research of the Scottish Council on Human Bioethics, Edinburgh, and Visiting Professor of Bioethics at St Mary's University College, London, UK.

Christopher Bechtel holds a degree in philosophy and is a Research Fellow with the Scottish Council on Human Bioethics, Edinburgh, UK.

Neurodevelopmental disorders arise from disturbances to various processes of brain development, which can manifest in diverse ways. They encompass many rare genetic syndromes as well as common, heritable conditions such as intellectual disability, autism, ADHD, schizophrenia and many types of epilepsy. The Genetics of Neurodevelopmental Disorders examines recent revolutionary advances in our understanding of the genetics of these disorders, exploring both basic discoveries and the translation of new findings into the clinical setting. The book begins by examining the genetic architecture and etiology of neurodevelopmental disorders. It describes the striking recent progress in identifying pathogenic mutations, which are grouped here based on the neurodevelopmental processes impacted. Subsequent chapters consider the use of cellular and animal models to elucidate the cascading consequences of such mutations, from molecular and cellular levels to emergent effects on neural circuits, brain systems and subsequent psychological development. The text concludes by examining the important clinical implications of the recent advances in the field, from recognition of the genetic causes in individual patients to development of new treatments and interventions. A timely synthesis, The Genetics of Neurodevelopmental Disorders is a unique and essential resource for neuroscientists, geneticists, neurologists and psychiatrists and an accessible and up-to-date overview for medical and science students.

Advances in molecular biology and recombinant DNA technology have accelerated progress in many fields of life science research, including gene therapy. A large number of genetic engineering approaches and methods are readily available for gene cloning and therapeutic vector construction. Significant progress is being made in genomic, DNA sequencing, gene expression, gene delivery and cloning. Thus gene therapy has already shown that it holds great promise for the treatment of many diseases and disorders. In general it involves the delivery of recombinant genes or transgenes into somatic cells to replace proteins with a genetic defect or to transfer with the pathological process of an illness. The viral and non-viral delivery systems may hold the potential for future non-invasive, cost-effective oral therapy of genetically-based disorders. Recent years have seen considerable progress in the discovery and early clinical development of a variety of gene therapeutic products. The availability, validation, and implementation of gene therapeutic products has also enabled success in testing and evaluation. New challenges will need to be overcome to ensure that products will also be successful in later clinical development and ultimately for marketing authorisation. These new challenges will include improvements in delivery systems, better control of in-vivo targeting, increased level transduction and duration of expression of the gene, and manufacturing process efficiencies that enable reduction in production costs. Perhaps profound understanding of regulated gene design may result in innovative bioproducts exhibiting safety and efficacy profiles that are significantly superior to those achieved by the use of naturally occurring genes. This procedure may contribute considerably to fulfilling standards set by regulatory authorities. This book provides an overview of the current advances in the field of gene therapy and the methods that are being successfully applied in the manufacture of gene therapeutic products, and hopefully will stimulate further progress and advancement in this field to meet the ever-increasing demands.

Are you considering to test your own DNA? Do you want to learn more about your health and ancestry? Understand your DNA - A Guide is about what you can use genetics for. For a few hundred dollars, you can now scan your own genes. Millions of people all over the world have already done so. Everyone wants to see what they can get to know about themselves, and the market growing rapidly. But what does it require from you? And what can you really use a DNA test for? Understand your DNA - A Guide helps you put the plots and charts of consumer genetics into perspective and enables you to figure out what's up and down in the media headlines. The book is also a key input for today's debate about what we as a society can and want to do with medical genetics. Genetics will play a growing role in the future. Understand your DNA - A Guide is an easy-to-read and necessary guide to that future. The book is provided with a foreword by Professor Sham Pak-Chung of Hong Kong University.While there are many books about genetics, they typically take the perspective of a scientist wanting to understand the molecular levels. At the same time, direct-to-consumer genetics is a booming market, with millions of people already tested. Very little has been published that will guide them for real, because the need here is more focused on medical and practical understanding, than focussed on molecules.This book therefore aims to hit that vacant spot in the market. It's a walk-through of all concepts that are necessary to understand in your own analysis. Meanwhile, it is also limited in scope to only those concepts - thus distinguishing it from broader works.The book is appropriate for the readerships in modern multi-ethnic metropolises because it mixes European and Asian examples, both from the collaboration between the author from Europe and the foreword-writer, Prof. Pak Sham of Hong Kong University. But also, because many of the examples in the book concerns differences and similarities between Asian and European ethnicities, something the author believes is a trend in time.Related Link(s)

In the World Library of Psychologists series, international experts present career-long collections of what they judge to be their finest pieces - extracts from books, key articles, salient research findings, and their major practical theoretical contributions. In this fascinating collection, Professor Gordon Claridge charts the development of a model of mental health that blurs the line between madness and sanity, conditions such as schizophrenia and other forms of psychosis seen as dimensions of 'normal' personality and temperament rather than separate abnormalities. Working with, and influenced by, the late Hans Eysenck, Claridge is celebrated for evolving research on personality and psychological disorders into a revised view of the spectrum of psychotic traits. The concept of schizotypy, re-evaluated by Claridge, sees mental illness not as a pathology suffered by a few, but as the end of a continuum experienced by us all. Psychopathology and Personality Dimensions brings together some of the author's most influential publications on the topics of schizotypy and psychoticism, personality disorders, and the use of drug techniques to investigate normal and abnormal individual differences. Interspersed throughout with specially-written retrospectives by Professor Claridge, looking back at his work and contextualising where it sits in the wider literature, the collection illustrates a radical and influential model of mental illness that continues to resonate today. This book is an essential resource for all those engaged or interested in the field of personality and psychological disorders.

Using real data sets throughout, Survival Analysis in Medicine and Genetics introduces the latest methods for analyzing high-dimensional survival data. It provides thorough coverage of recent statistical developments in the medical and genetics fields. The text mainly addresses special concerns of the survival model. After covering the fundamentals, it discusses interval censoring, nonparametric and semiparametric hazard regression, multivariate survival data analysis, the sub-distribution method for competing risks data, the cure rate model, and Bayesian inference methods. The authors then focus on time-dependent diagnostic medicine and high-dimensional genetic data analysis. Many of the methods are illustrated with clinical examples. Emphasizing the applications of survival analysis techniques in genetics, this book presents a statistical framework for burgeoning research in this area and offers a set of established approaches for statistical analysis. It reveals a new way of looking at how predictors are associated with censored survival time and extracts novel statistical genetic methods for censored survival time outcome from the vast amount of research results in genomics.

"Hox Genes: Methods and Protocols" explores techniques and methodologies which arose from or were successfully applied to the study of Hox genes and Hox proteins, at the intersection of experimental embryology, genetics, biochemistry, physiology, evolutionary biology and other life sciences. This detailed volume begins with a section on discovery and functional analysis of Hox genes and then it continues onward to discuss mode of action and biomedical applications of Hox proteins. Written in the highly successful "Methods in Molecular Biology" series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols and tips on troubleshooting and avoiding known pitfalls.

Expert and practical, "Hox Genes: Methods and Protocols" serves as an ideal guide to researchers striving to move forward in this dynamic and exciting area of study.

Gene therapy has expanded rapidly over the last decade. The number of clinical trials reported by 2001 included 532 protocols and 3436 patients. Phase I trials predominate with 359 trials of 1774 patients versus Phase II (57 trials with 507 patients) and Phase III (3 trials of 251 patients). The disease overwhelmingly targeted by gene therapy is cancer: involving 331 trials with 2361 patients. Despite the somewhat disappointing results of clinical trials to date, gene therapy offers tremendous promise for the future of cancer therapy. The area of gene therapy is vast, and both malignant and nonmalignant cells can be targeted. Suicide Gene Therapy: Methods and Reviews covers gene therapy that targets malignant cells in a treatment that has become known as "suicide gene therapy. " Basically, this approach uses the transduction of cancer cells with a gene for a foreign enzyme that, when expressed, is able to activate a nontoxic prodrug into a highly cytotoxic drug able to kill the cancer cell population. This is a major area in cancer gene therapy-in 2001 this technique was represented by 52 clinical protocols with a total of 567 patients. Additional trials used multiple gene therapy protocols that also involved suicide gene therapy (83 with 497 patients), indicating that the interest in this area is considerable. Suicide Gene Therapy: Methods and Reviews aims to cover comprehensively, both in theoretical and practical terms, the rapidly evolving area of suicide gene therapy for cancer.

Statistical Methods for Survival Trial Design: With Applications to Cancer Clinical Trials Using R provides a thorough presentation of the principles of designing and monitoring cancer clinical trials in which time-to-event is the primary endpoint. Traditional cancer trial designs with time-to-event endpoints are often limited to the exponential model or proportional hazards model. In practice, however, those model assumptions may not be satisfied for long-term survival trials. This book is the first to cover comprehensively the many newly developed methodologies for survival trial design, including trial design under the Weibull survival models; extensions of the sample size calculations under the proportional hazard models; and trial design under mixture cure models, complex survival models, Cox regression models, and competing-risk models. A general sequential procedure based on the sequential conditional probability ratio test is also implemented for survival trial monitoring. All methodologies are presented with sufficient detail for interested researchers or graduate students.