The Handbook provides an essential resource at the interface of Genomics, Health and Society, and forms a crucial research tool for both new students and established scholars across biomedicine and social sciences. Building from and extending the first Routledge Handbook of Genetics and Society, the book offers a comprehensive introduction to pivotal themes within the field, an overview of the current state of the art knowledge on genomics, science and society, and an outline of emerging areas of research. Key themes addressed include the way genomic based DNA technologies have become incorporated into diverse arenas of clinical practice and research whilst also extending beyond the clinic; the role of genomics in contemporary 'bioeconomies'; how challenges in the governance of medical genomics can both reconfigure and stabilise regulatory processes and jurisdictional boundaries; how questions of diversity and justice are situated across different national and transnational terrains of genomic research; and how genomics informs - and is shaped by - developments in fields such as epigenetics, synthetic biology, stem cell, microbial and animal model research. Chapter 13 of this book is freely available as a downloadable Open Access PDF under a Creative Commons Attribution-Non Commercial-No Derivatives 3.0 license. https://www.routledgehandbooks.com/doi/10.4324/9781315451695-13 Chapter 28 of this book is freely available as a downloadable Open Access PDF under a Creative Commons Attribution-Non Commercial-No Derivatives 3.0 license. https://www.routledgehandbooks.com/doi/10.4324/9781315451695-28

This volume covers a wide range of various fields of research, with the common thread being Next Generation Sequencing (NGS) related methods and applications, as well as analysis and interpretation of the data obtained. Chapters guide readers through the highly dynamic processes of translational and transcriptional profiling of a cell, method to detect copy number alterations (CNAs), targeted sequencing applications, method called "Hi-Plex" to characterize known polymorphic loci, single-cell of DNA or RNA, identify and characterize rare circulating CD4 T cells, and computational pipeline for RNAseq analysis. 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. Authoritative and practical, Next Generation Sequencing: Methods and Protocols aims to be useful and informative for further study into this vital field.

Two to three decades ago, multiple primary malignancies (MPM) were considered to be simply a clinical curiosity, with sporadic reports, mostly single case descriptions, found in the literature. While in the last few years, analyses of larger series have been published, the number of cases has still been relatively small and most of the reports have addressed a single type of primary tumor and its associations. With the improved prognosis and survival of cancer patients, MPM is becoming increasingly prevalent in this population, necessitating a better understanding of the characteristics and associations of the malignancies involved. Thus, as a prerequisite, a universal definition and an internationally accepted classification system, based on chronological, pathological, clinical, and other parameters, are needed. Moreover, much remains to be learned about the etiology of MPM, whether genetic, iatrogenic, or environmental. Several of the hereditary syndromes, such as familial adenomatous polyposis, hereditary non-polyposis colorectal cancer, hereditary breast-ovarian cancer, and multiple endocrine neoplasia, are already well-known and their characteristics in relation to MPM must be kept in mind. Nonetheless, along with these syndromes, there are sporadic and apparently casual associations between primary neoplasms that can involve almost any part of the body. This volume points out the clinical aspects of MPM and discusses the diagnostic and therapeutic problems that are encountered in treating these patients. "DNA-guided" surgery, currently confined to the treatment of patients with hereditary syndromes, will, along with other novel treatment strategies, no doubt play an increasingly greater role in the therapy of MPM. This work presents state-of-the-art information about MPM that is aimed at a broad range of medical specialists, including surgeons, endoscopists, oncologists, and geneticists, . The goal is to improve our understan

This book explores the recent advances in the techniques and platforms used in biomarker research that have revolutionized the way we study, diagnose, and treat brain injury conditions. The contributors describe different biomarker studies pertaining to brain injury and other neurological disorders and analyze the different models and technologies used to identify these biological markers. The book includes findings from "Omics research" that have been utilized to decipher and identify such biomarkers. It discusses protein, microRNA, and altered gene profiles and reviews neurological disorders such as multiple sclerosis, Charcot-Marie-Tooth disease, and prion and Alzheimer's disease.

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.

The controversial topic of the technology of Pre-implantation Genetic Diagnosis, and the muddled approach to this subject adopted by the UK Parliament, is explored in detail in this volume. The author takes the viewpoint that the HFEA has taken insufficient notice to date of certain core ethical principles and makes the case for a much more ethically consistent and humane system than has been managed so far.

Arguing that many of the fears and objections levied against Robert Nozick's notion of the 'Genetic Supermarket' by disability activists, christian bioethicists and radical feminists, amongst others, are internally inconsistent, philosophically unsound or merely highly improbable, the author considers a number of individual policy decisions of the HFEA and addresses such questions as:

• Can a case be made out for state involvement in such decisions?
• Who stands to be harmed by a supermarket model?
• Are any ethical principles or societal interests threatened by it?

This book is an essential resource for law students of all levels and professionals working within or interested in medical and healthcare law and medical genetics.

The controversial topic of the technology of Pre-implantation Genetic Diagnosis, and the muddled approach to this subject adopted by the UK Parliament, is explored in detail in this volume. The author takes the viewpoint that the HFEA has taken insufficient notice to date of certain core ethical principles and makes the case for a much more ethically consistent and humane system than has been managed so far.

Arguing that many of the fears and objections levied against Robert Nozick's notion of the 'Genetic Supermarket' by disability activists, christian bioethicists and radical feminists, amongst others, are internally inconsistent, philosophically unsound or merely highly improbable, the author considers a number of individual policy decisions of the HFEA and addresses such questions as:

• Can a case be made out for state involvement in such decisions?
• Who stands to be harmed by a supermarket model?
• Are any ethical principles or societal interests threatened by it?

This book is an essential resource for law students of all levels and professionals working within or interested in medical and healthcare law and medical genetics.

This book presents pioneering findings on the characterization of cellular regulation and function for three recently identified protein posttranslational modifications (PTMs): lysine malonylation (Kmal), glutarylation (Kglu) and crotonylation (Kcr). It addresses three main topics: (i) Detecting Kmal substrates using a chemical reporter, which provides important information regarding the complex cellular networks modulated by Kmal; (ii) Identifying Kglu as a new histone PTM and assessing the direct impact of histone Kglu on chromatin structure and dynamics; and (iii) Revealing Sirt3's value as a regulating enzyme for histone Kcr dynamics and gene transcription, which opens new avenues for examining the physiological significance of histone Kcr. Taken together, these studies provide information critical to understanding how these protein PTMs are associated with various human diseases, and to identifying therapeutic targets for the dysregulation of these novel protein markers in various human diseases.

Psychiatric genetics has become 'Big Biology'. This may come as a surprising development to those familiar with its controversial history. From eugenic origins and contentious twin studies to a global network of laboratories employing high-throughput genetic and genomic technologies, biological research on psychiatric disorders has become an international, multidisciplinary assemblage of massive data resources. How did psychiatric genetics achieve this scale? How is it socially and epistemically organized? And how do scientists experience this politics of scale? Psychiatric Genetics: From Hereditary Madness to Big Biology develops a sociological approach of exploring the origins of psychiatric genetics by tracing several distinct styles of scientific reasoning that coalesced at the beginning of the twentieth century. These styles of reasoning reveal, among other things, a range of practices that maintain an extraordinary stability in the face of radical criticism, internal tensions and scientific disappointments. The book draws on a variety of methods and materials to explore these claims. Combining genealogical analysis of historical literature, rhetorical analysis of scientific review articles, interviews with scientists, ethnographic observations of laboratory practices and international conferences, this book offers a comprehensive and detailed exploration of both local and global changes in the field of psychiatric genetics.

Unique in its focus on this particular field of cardiovascular science, Molecular Mechanisms of Cardiac Hypertrophy and Failure reviews current knowledge of the mechanisms contributing to heart failure.Bringing together an internationally renowned team of contributors, the text provides expert reviews on the latest advances in molecular and cell biology, biochemistry and pharmacology. scientists in academia and industry, the book has particular emphasis on the following key areas: - cardiac hypertrophy - contractile depression - arrhythmogenesis - genetics - the clinical implications of the research in these areas. interest to clinical cardiologists, vascular medicine specialists, hematologists, and internists, as well as members of the cardiovascular research community and pharmaceutical and biotechnology industries.

The availability of human genome, large amount of data on individual genetic variations, environmental interactions, influence of lifestyle, and cutting-edge tools and technologies for big-data analysis have led to the era of clinical practice of "Precision Medicine". This book aims to provide a readily available resource on all the important developments achieved so far in the field of oncology. All recent developments have been explained along with epidemiology, technologies and approaches to manage the included diseases. Therefore, readers will get the up to date information on the next-generation approach in tackling all kinds of cancer. Key Features * Presents the latest trend of cancer management based on precision/predictive medicine approach * Reviews the latest and up to date literature in the field of Precision Medicine * Highlights the next generation approach in tackling malignant diseases * Discusses how a life-threatening disease like cancer can be managed with the help of Precision Medicine * Encapsulates a global prospective

The discovery of the two inherited susceptibility genes BRCA1 and BRCA2 in the mid-1990s created the possibility of predictive genetic testing and led to the establishment of specific medical programmes for those at high risk of developing breast cancer in the UK, US and Europe. The book provides a coherent structure for examining the diversity of practices and discourses that surround developments linked to BRCA genetics, and to the evolving field of genetics more broadly. It will be of interest to students and scholars of anthropology, sociology, history of science, STS, public health and bioethics. Chapter 8 of this book is freely available as a downloadable Open Access PDF under a Creative Commons Attribution-Non Commercial-No Derivatives 3.0 license. https://s3-us-west-2.amazonaws.com/tandfbis/rt-files/docs/Open+Access+Chapters/9780415824064_oachapter8.pdf

The volume is collection of articles treating the topic of human improvement/enhancement from a variety of perspectives - philosophical, literary, medical, genetic, sociological, legal etc. The chapters in this volume treat not only those aspects that most immediately come to mind when one thinks of 'human enhancement', such as genetic engineering, cloning, artificial implants and artificial intelligence etc. Somewhat less obvious aspects include evolutionary perspectives in connection with the prolongation of the human lifespan, plastic surgery since its beginnings, and questions such as whether the distinction between 'natural' and 'artificial' can really be drawn at all and how it has been conceived across the ages, or what the legal implications are of recent developments and techniques. Many papers make links to the representation of these developments in popular culture, from Jules Verne through Aldous Huxley to the movie Gattaca, address the hopes and fears that come with them as well as the question how realistic these are. While all chapters are written by scientists at the international top of their respective fields, all are accessible to a non-specialist audience and eminently readable. We believe that they represent a state-of-the art overview of questions that are of interest to a large audience. The book thus targets a non-specialist audience with an interest in philosophical, sociological, scientific and legal issues involved in both traditional and recent matters concerning the desire of mankind to improve itself, the human body, the human mind and the human condition. It is unique in that it brings together all these aspects within a coherent and cohesive collection.

Research into DNA and the development of powerful techniques to produce DNA profiles enable experts to appear in court and give compelling. scientific evidence in many types of case. This book gives the legal practitioner a complete account of the issues involved in taking DNA evidence into court. It helps lawyers to ask important and probing questions when faced with such evidence in court. This second edition has been thoroughly updated to take account of recent legislation and case law.

Over the past few years there has been a proliferation of genetic databases and biobanks, which promise to increase scientists' understandings of the way our genes interact with the environment. These biomedical research projects involve hundreds of thousands of people worldwide who are asked to donate blood and tissue samples as well as personal information. The control, exploitation and ownership of such detailed personal medical information by governments and by commercial companies is generating social and ethical controversy. contradictions and limitations of the current regulatory frameworks for and policy debates about genetic databases. Drawing on original empirical research and theoretical debates in the fields of sociology, anthropology and legal studies, the contributors to this book challenge the prevailing orthodoxy of informed consent and explore the relationship between personal privacy and the public good. They also consider the multiple meanings attached to human tissue and the role of public consultations and commercial involvement in the creation and use of genetic databases. representation of participation that is often at odds with the experiences and understandings of those taking part. The findings present a serious challenge for public policy to provide mechanisms to safeguard the welfare of individuals participating in genetic databases. The book is written in an accessible style that will appeal to a multidisciplinary and international audience, and is relevant to policy discussions in Europe and in North America, as well as other countries that are developing similar initiatives. It will be of great interest to academics and students of medical sociology, health studies, public health, public policy and ethics.

Over the past few years there has been a proliferation of genetic databases and biobanks, which promise to increase scientists' understandings of the way our genes interact with the environment. These biomedical research projects involve hundreds of thousands of people worldwide who are asked to donate blood and tissue samples as well as personal information. The control, exploitation and ownership of such detailed personal medical information by governments and by commercial companies is generating social and ethical controversy. Genetic Databases offers a timely analysis of the underlying tensions, contradictions and limitations of the current regulatory frameworks for and policy debates about genetic databases. Drawing on original empirical research and theoretical debates in the fields of sociology, anthropology and legal studies, the contributors to this book challenge the prevailing orthodoxy of informed consent and explore the relationship between personal privacy and the public good. They also consider the multiple meanings attached to human tissue and the role of public consultations and commercial involvement in the creation and use of genetic databases. The authors argue

Stem cell research has been a problematic endeavour. For the past twenty years it has attracted moral controversies in both the public and the professional sphere. The research involves not only laboratories, clinics and people, but ethics, industries, jurisprudence, and markets. Today it contributes to the development of new therapies and affects increasingly many social arenas. The matrix approach introduced in this book offers a new understanding of this science in its relation to society. The contributions are multidisciplinary and intersectional, illustrating how agency and influence between science and society go both ways. Conceptually, this volume presents a situated and reflexive approach for philosophy and sociology of the life sciences. The practices that are part of stem cell research are dispersed, and the concepts that tie them together are tenuous; there are persistent problems with the validation of findings, and the ontology of the stem cell is elusive. The array of applications shapes a growing bioeconomy that is dependent on patient donations of tissues and embryos, consumers, and industrial support. In this volume it is argued that this research now denotes not a specific field but a flexible web of intersecting practices, discourses, and agencies. To capture significant parts of this complex reality, this book presents recent findings from researchers, who have studied in-depth aspects of this matrix of stem cell research. This volume presents state-of-the-art examinations from senior and junior scholars in disciplines from humanities and laboratory research to various social sciences, highlighting particular normative and epistemological intersections. The book will appeal to scholars as well as wider audiences interested in developments in life science and society interactions. The novel matrix approach and the accessible case studies make this an excellent resource for science and society courses.

Examples from various organs and diseases illustrate the potential benefit obtained when both therapeutic approaches are combined with delivery strategies. Representing the combined effort of several leading international research and clinical experts, this book, Emerging Trends in Cell and Gene Therapy, provides a complete account on and brings into sharp focus current trends and state-of-the-art in important areas at the interface of cell- and gene-based therapies. This book addresses the current fragmented understanding regarding these two research areas and fills the vast unmet educational need and interest of both students and researchers in academia and industry. Main features of the book: * Biological aspects of stem cell sources, differentiation and engineering. * Application of microfluidics to study stem cell dynamics * Potential clinical application of stem cells and gene therapy to specific human disease. * Utilization of biomaterials and stem cells in regenerative medicine with particular emphasis on spinal cord repair, ligament and bone tissue engineering. * Biomimetic multiscale topography for cell alignment.

Omics is an emerging and exciting area in the field of science and medicine. Numerous promising developments have been elucidated using omics (including genomics, transcriptomics, epigenomics, proteomics, metabolomics, interactomics, cytomics and bioinformatics) in cancer research. The development of high-throughput technologies that permit the solution of deciphering cancer from higher dimensionality will provide a knowledge base which changes the face of cancer understanding and therapeutics.

This is the first book to provide such a comprehensive coverage of a rapidly evolving area written by leading experts in the field of omics. It complies and details cutting-edge cancer research that covers the broad advances in the field and its application from cancer-associated gene discovery to drug target validation. It also highlights the potential of using integration approach for cancer research.

This unique and timely book provides a thorough overview of developing omics, which will appeal to anyone involved in cancer research. It will be a useful reference book for graduate students of different subjects (medicine, biology, engineering, etc) and senior scientists interested in the fascinating area of advanced technologies in cancer research.

Readership: This is a precious book for all types of readers cancer researchers, oncologists, pathologists, biologists, clinical chemists, pharmacologists, pharmaceutical specialists, biostatisticians, and bioinformaticists who want to expand their knowledge in cancer research."

Most biological reactions and functions occur within a narrow range of pH. Any changes in the pH have great impacts on the biological functional at every level, including protein folding, enzymatic activities and proliferation and cell death. Therefore, maintain the pH homeostasis at the local or systemic level is one of the highest priorities for all multicellular organisms. Many redundant mechanisms are in place to maintain the pH homeostasis, a topic that is well covered in the scientific literature and medical textbooks. However, when the pH homeostasis is disrupted in various physiological adaptations and pathological situations, resulting acidity may trigger significant pathophysiological events and modulate disease outcomes. Therefore, understanding how various cells sense and react to acidity have broad impact in a wide variety of human diseases, including cancer, stroke, myocardial infarction and diabetes, renal and infectious diseases. In this book, many investigators have summarized the molecular genetics on the detailed mechanisms by which different mammalian cells sense and response acidity. These chapters cover the acidity with broad impact in biological understanding and human diseases and review various sensing mechanism and cellular responses to pH alterations in both physiological (taste, pain) and pathological settings (ischemia and cancers). Furthermore, these authors present a broad spectrum of investigative approaches to cellular response to acidosis in a in wide variety of human diseases.

Epigenetics is defined as heritable changes that do not affect the DNA sequence but influence gene expression. Epigenetic changes occur at the levels of DNA, histone, protein, and chromatin structures. Proper epigenetic modifications are essential for cell differentiation and function during development, while some epigenetic modifications are passed on from parents to offspring through gametes. Therefore, alterations of epigenetic states would have serious consequences for human development and health. This realization and the advent of new technologies have encouraged the advance of epigenetic studies in recent years. Nonetheless, many aspects of epigenetics, such as regulatory mechanisms and evolutional advantages, remain to be better understood.Written by 26 scientists at the forefront of epigenetics research, this book discusses the different facets of epigenetics: from gametogenesis to child development, as well as from mechanistic studies in animal models to reviews of human clinical data.

The completion of the human genome project in 2000 dramatically emphasized the imminent success of the genetic revolution. The ethical and social consequences of this scientific development are immense. From human reproduction to life-extending therapies, from the impact on gender and race to public health and public safety, there is scarcely a part of our lives left unaffected by the impact of the new genetics. A Companion to Genethics is the first substantial study of the multifaceted dimensions of the genetic revolution and its philosophical, ethical, social, and political significance. It brings together the best and most influential contemporary writing about genethics. Newly commissioned essays from prominent figures in the current debate provide a wide-ranging and fascinating scholarly analysis of all the issues that arise from this explosive science.

Since the advent of cDNA microarrays, oligonucleotide array technology, and gene chip analysis, genomics has revolutionized the entire field of biomedical research. A byproduct of this revolution, toxicogenomics is a fast-rising star within toxicological analysis.

Gathering together leading authors and scientists at the forefront of the field, An Introduction to Toxicogenomics provides a comprehensive overview of this new discipline. With a focus on toxicology, it introduces the basic principles of microarray/oligonucleotide array-based genomic analysis and explains how it fits into the field of biomedical research. These discussions provide an overview to the actual mechanics of the analyses themselves and offer insights on handling and quality control. Then the book features an important section on the basics of data analysis and clustering methods such as genetic algorithms. Finally, it covers the application of expression profiling in the field of toxicology and addresses the two fundamental types of analysis in detail, with sections dedicated to both mechanistic and predictive studies.

Although toxicogenomics promises fast, efficient techniques and information-rich data, much of its potential remains untapped. An Introduction to Toxicogenomics consolidates the concepts underlying the field to provide a solid foundation from which to begin your research endeavors.

This second edition is fully updated throughout and covers the emerging evidence that indicates that the Gadd45 family of proteins plays a unique and critical role as sensors of stress, including genotoxic, physiological, and oncogenic stress. It sheds light on the complex cellular stress response, encompassing myriad molecular pathways with a plethora of regulators and effectors. The GADD45 stress response genes encode small (18 kd) nuclear/cytoplasmic proteins. These genes are rapidly induced by a wide variety of endogenous and exogenous stress stimuli. Despite marked similarities, Gadd45 genes are regulated differentially and exhibit functional diversity. Gadd45 proteins respond to physiological and oncogenic stress, and are implicated in cell cycle arrest, DNA demethylation and repair, apoptosis, cell survival, genomic stability, and inflammation. The purpose of this book is to provide a comprehensive overview of the unique global role that Gadd45 proteins play as stress sensors and the molecular pathways involved.

Combining elements of biochemistry, molecular biology, and immunology, artificial DNA can be employed in a number of scientific disciplines. Some of the varied applications include site-specific mutagenesis, hybridization, amplification, protein engineering, anti-sense technology, DNA vaccines, protein vaccines, recombinant antibodies, screening for genetic and pathogenic diseases, development of materials with new biochemical and structural properties, and many more.

Artificial DNA: Methods and Applications introduces the concept of artificial DNA that has been rationally designed and explains how it may be exploited in order to develop products that will achieve your intended purpose. The first part of the book covers methods of oligonucleotide synthesis and direct applications of synthetic DNA. The second part describes methods of gene assembly from synthetic oligonucleotides and applications of synthetic genes. The authors also discuss the different trends and future developments within each application area .

With state-of-the art research, the contributing authors describe how to engineer proteins using rational and semi-rational design to exhibit the desired traits and detail the various amplification reactions and hybridization techniques for modeling evolution and for use in basic research. The only text devoted to this subject, Artificial DNA offers a comprehensive review that allows you to understand the strategy, design, and applications of synthetic oligonucleotides.