Genome-editing methods are becoming routine tools for molecular and cell biologists. Such tools include ZFNs, CRISPR, megaTALs and TALENs. These tools are revolutionizing the creation of precisely manipulated genomes to modify the characteristics of organisms or cells. Additionally, gene drives have altered the way we understand inheritance laws. They give us the ability to have total control of the inheritance of traits of choice and importance. This succinct volume summarizes the history, principles and applications - as well as the advantages and disadvantages - of each of these tools and various kinds of gene drives. The book is part of a program to produce books helpful to students and faculties of science at colleges and universities. This volume in the Pocket Guides to Biomedical Sciences series will help demystify these technologies. The book fills the gap between established conventional methods and the novel and exciting newly introduced tools of genome editing and gene drives. It will help young scientists understand the emerging genome-editing tools and gene drives, thereby promoting related research and adoption. Key Features Extensively reviews the current genome-editing tools and gene drives Clarifies the targeting mechanisms and specificity of genome-editing tools Details many different types of natural and synthetic gene drives Highlights concerns with gene drives and genome-editing tools Related Titles Brown, T. A. Genomes 4 (ISBN 978-0-8153-4508-4) Samuelsson, T. The Human Genome in Health and Disease: A Story in Four Letters (ISBN 978-0-8153-4591-6) Soh, J., et al. Genome Annotation (ISBN 978-1-4398-4117-4)

Debating Human Genetics is based on ethnographic research focusing primarily on the UK publics who are debating and engaging with human genetics, and related bio and techno-science. Drawing on recent interviews and data, collated in a range of public settings, it provides a unique overview of multiple publics as they 'frame' the stake of the debates in this emerging, complex and controversial arena.

The book outlines key sites and applications of human genetics that have sparked public interest, such as biobanks, stem cells, genetic screening and genomics. It also addresses the 'scientific contoversies' that have made considerable impact in the public sphere - the UK police DNA database, gene patenting, 'saviour siblings', and human cloning. By grounding the concepts and issues of human genetics in the real life narratives and actions of patient groups, genetic watchdogs, scientists, policy makers, and many other public groups, the book exemplifies how human genetics is a site where public knowledge and value claims converge and collide, and identifies the emergence of 'hybrid publics' who are engaging with this hybrid science.

Debating Human Genetics is based on ethnographic research focusing primarily on the UK publics who are debating and engaging with human genetics, and related bio and techno-science. Drawing on recent interviews and data, collated in a range of public settings, it provides a unique overview of multiple publics as they 'frame' the stake of the debates in this emerging, complex and controversial arena. The book outlines key sites and applications of human genetics that have sparked public interest, such as biobanks, stem cells, genetic screening and genomics. It also addresses the 'scientific contoversies' that have made considerable impact in the public sphere - the UK police DNA database, gene patenting, 'saviour siblings', and human cloning. By grounding the concepts and issues of human genetics in the real life narratives and actions of patient groups, genetic watchdogs, scientists, policy makers, and many other public groups, the book exemplifies how human genetics is a site where public knowledge and value claims converge and collide, and identifies the emergence of 'hybrid publics' who are engaging with this hybrid science.

This issue on psychiatric genetics gives a clinically-minded approach to the newest thinking in genetics and pharmacogenomics, including articles on genetic epidemiology; molecular approaches; epigenetics; and genetic considerations in schizophrenia, bipolar disorder, major depression, obsessive-compulsive disorder, alzheimer's disease, autism, ADHD, and addictions. The issue concludes with articles on diagnostic testing, and pharmacogenomics.

Carrier testing of adults provides information about the risk of passing a genetic mutation to your children, leading to reproductive (and some say, eugenic) decisions. Excessive carrier screening may have adverse effects, but it can also prevent suffering and open up new reproductive options. Raz's study focuses on the interplay of community genetics (the medical organisation of carrier screening) and genetic alliances (networks of individuals at risk), exploring how 'genetic communities' are emerging both within existing ethnic groups and around patients' organizations.

While the interplay between carrier testing, reproduction and eugenics has sparked many discussions, this study provides a novel and much-needed perspective on its actual implementation and interpretation by community members. Conflating a cross-cultural spectrum of genetic communities, the benefits and perils of supporting (or restricting) carrier screening are located within broader social issues such as religion, ethnicity, multi-culturalism, abortion, stigmatization, suffering and care-giving. While carrier screening emerges as ultimately a morally justified pronatalist endeavour for the reduction of suffering, thus being different in principle from the 'old' eugenics, it can also carry unintended adverse consequences if left unattended to consumers, communities, or health professionals.

Dr. Anjali Aggarwal is working as a Senior Scientist at National Dairy Research Institute, Karnal (India). She holds a PhD degree in Animal Physiology and is involved in research and teaching at post-graduate level. Her area of research work is stress and environmental physiology. She has more than 50 publications, two technical bulletins, four manuals and many book chapters to her credit. She has successfully guided many post-graduate and PhD students. Her major research accomplishments are on microclimatic modification for alleviation of heat and cold stress, mist and fan cooling systems for cows and buffaloes, and use of wallowing tank in buffaloes. Her work involves the use of technology of supplementing micronutrients during dry period and early lactation to crossbred and indigenous cows for alleviating metabolic and oxidative stress and improved health and productivity. Studies are also done in her lab on partitioning of heat loss from skin and pulmonary system of cattle and buffaloes as a result of exercise or exposure to heat stress. Dr. R.C. Upadhyay is working as Head, Dairy Cattle Physiology Division at National Dairy Research Institute, Karnal (India). He graduated in Veterinary Sciences and obtained his PhD degree in Animal Physiology. His area of recent research is climate change, stress, and environmental physiology. His major research accomplishment is on climate change impact assessment of milk production and growth in livestock. His work also involves studying methane conversion and emission factors for Indian livestock and use of IPCC methodology of methane inventory of Indian livestock. Heat shock protein-70 expression studies in cattle and buffaloes are also done in his lab. Draught animal power evaluation, fatigue assessment, work-rest cycle and work limiting factors form the highlights of his work. Studies on partitioning of heat loss from skin and pulmonary system of cattle and buffaloes and electrocardiographic studies in cattle, buffalo, sheep and goat are also undertaken in his lab. He has more than 75 research papers, four books and several book chapters to his credit. Technologies developed and research done by him include methodology of methane measurement: open and closed circuit for cattle and buffaloes; inventory of methane emission from livestock using IPCC methodology; livestock stress index: thermal stress measurement based on physiological functions; and draught power evaluation system and large animal treadmill system. He received training in Radio-nuclides in medicine at Australian School of Nuclear Technology, Lucas heights, NSW, Australia in 1985 and Use of radioisotopes in cardiovascular investigations at CSIRO, Prospect, NSW, Australia, during 1985-86. He has guided several post-graduate and PhD students. He is recipient of Hari Om Ashram Award-1990 (ICAR) for outstanding research in animal sciences.

There exists today a fast growing availability of personal genetic information. Its prognostic impact and value for an individual or family member's health is sometimes unclear, whilst at other times it is clear-cut. The issue of whether to disclose genetic information does however have wide ranging implications. Avoiding the rhetoric of 'genetic exceptionalism', and drawing on an expanded field of bioethical, sociological and anthropological research, this book sets a new agenda for discussing the ethics surrounding the disclosure of prognostic genetic information. A hermeneutical approach reconsiders the ethics of disclosure in a variety of contexts in which genetic information is generated, requested, interpreted or communicated - from the provider perspective, but also from the moral perspectives of clients and their families. It is in situations of disclosure, in these different contexts, that genetic information meets morality. Providers and recipients can become vulnerable to the revelation or concealment of information, and the forms in which it may be provided. Disclosure Dilemmas invites readers to explore these contexts from an ethical viewpoint and will be a valuable resource for anyone with an interest in biomedical ethics.

Provides an introduction to the various statistical techniques involved in medical research and drug development with a focus on estimating the success probability of an experiment Success Probability Estimation with Applications to Clinical Trials details the use of success probability estimation in both the planning and analyzing of clinical trials and in widely used statistical tests. Devoted to both statisticians and non-statisticians who are involved in clinical trials, Part I of the book presents new concepts related to success probability estimation and their usefulness in clinical trials, and each section begins with a non-technical explanation of the presented concepts. Part II delves deeper into the techniques for success probability estimation and features applications to both reproducibility probability estimation and conservative sample size estimation. Success Probability Estimation with Applications to Clinical Trials: Addresses the theoretical and practical aspects of the topic and introduces new and promising techniques in the statistical and pharmaceutical industries * Features practical solutions for problems that are often encountered in clinical trials * Includes success probability estimation for widely used statistical tests, such as parametric and nonparametric models * Focuses on experimental planning, specifically the sample size of clinical trials using phase II results and data for planning phase III trials * Introduces statistical concepts related to success probability estimation and their usefulness in clinical trials Success Probability Estimation with Applications to Clinical Trials is an ideal reference for statisticians and biostatisticians in the pharmaceutical industry as well as researchers and practitioners in medical centers who are actively involved in health policy, clinical research, and the design and evaluation of clinical trials.

This is the first comprehensive book on human/animal gene responses to RNA viral infections, including prevalent, emerging and re-emerging RNA viruses such as HIV, SARS-CoV, West Nile virus, influenza virus and many others. Human gene responses are reviewed by leading virologists worldwide in the following aspects: (i) the altered gene expression profiles at the transcriptional and translational levels detected with cutting-edge technologies such as cDNA microarray and proteomics; (ii) host innate and adapted immune responses to viral replication in target organs; (iii) virus-activated signal transduction pathways in cell survival, apoptosis and autophagosomal pathways; and (iv) the small interfering RNA/microRNA-mediated gene silencing pathway, a recently characterized new host defense mechanism against viral infection. Organized into 27 highly accessible and well-illustrated chapters, this volume explores state-of-the-art knowledge of the molecular mechanisms of RNA virus infection and host virus interactions. This comprehensive compilation of the altered gene expression profiles and signal transduction pathways in host cells in response to the majority of human/animal RNA viruses opens new directions for basic and clinical research on viral pathogenesis, and also provides valuable biomarkers for researchers to select gene targets in the development of diagnostic tests and antiviral therapeutics for a number of infectious diseases.

This volume investigates human genetic biobanking and its regulation in various Asian countries and areas, including Japan, Mainland China, Taiwan, Hong Kong, India and Indonesia.. It sheds light on how cultural, socio-political and economic factors influence the set-up of bioethical regulation for human genetic biobanks and how bioethical sensitivities surrounding biobanks are handled.

Apart from placing discourses of trust in an international perspective, the comparative materials presented in this volume also put into perspective the concepts of genetic theft and exploitation, and genetic wealth and trust. This collection contains case studies of biobanking practices in societies with different needs and welfare levels, and provides insights into government strategies towards genetic resources by examining bioethics as practised at home.

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 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.

Adenoviruses are double stranded DNA viruses that have been used to study the process of DNA replication. Studies of the mode of action of adenovirally produced tumors in rodents led to the discovery of tumour supressor genes. The adenoviral vector is now the most used vector in clinical gene therapy especially for some kinds of cancers. The chapters in this book focus on the most up-to-date developments in the therapeutic applications of adenoviruses. The intended audience is individuals in the Life Sciences interested in therapeutic applications of adenoviruses. This book reviews the life history and immune responses to adenoviruses and summarizes various therapies implemented with the use of adenoviruses.

Genomic Data Sharing: Case Studies, Challenges, and Opportunities for Precision Medicine provides a comprehensive overview of current and emerging issues in genomic data sharing. In this book, international leaders in genomic data examine these issues in-depth, offering practical case studies that highlight key successes, challenges and opportunities. Sections discuss the eMERGE Network, Undiagnosed Disease Network, Vanderbilt Biobank, Marshfield Clinic Biobank, Minnesota Authorization, Rochester Epidemiology Project, NIH sponsored biobanks, GINA, and Global Alliance for Genomics and Health (GA4GH). In addition to these perspectives from the frontlines, the book also provides succinct overviews of ethical, legal, social and IT challenges. Clinician investigators, clinicians affiliated with academic medical centers, policymakers and regulators will also gain insights that will allow them to navigate the increasingly complex ethical, social and clinical landscape of genomic data sharing.

Long recognized as a leading textbook in this fast-moving field, Emery's Elements of Medical Genetics and Genomics offers current, complete information with a strong basis in practical clinical genetics and genomics for medical school and beyond. The 16th Edition of this award-winning text has been thoroughly updated throughout and includes case-based and multiple-choice questions, end-of-chapter summaries, an extensive glossary, and convenient online access, making it an ideal choice for all medical undergraduates as well as postgraduates seeking to improve their understanding and knowledge. Includes new case-based studies with questions and answers throughout, in addition to multiple-choice self-assessment questions for study and review. Covers key topics such as pharmacogenetics, personalized medicine, prenatal testing, reproductive genetics, and ethical and legal issues in medical genetics. Divides the text into three easy-to-use sections: The Scientific Basis of Human Genetics, Genetics in Medicine and Genomic Medicine, and Clinical Genetics, Counseling and Ethics Features full-color illustrations and other images that help readers visualize the appearance of genetic disorders and assist with the understanding of complex genetic structures. Contains learning features such as summary boxes, an extensive glossary of terms, online hyperlinks to important genetics websites and clinical databases, and more. Presents the extensive knowledge and experience of distinguished editors Peter D. Turnpenny and Sian Ellard, as well as new editor Ruth Cleaver. Enhanced eBook version included with purchase. Your enhanced eBook allows you to access all of the text, figures, and references from the book on a variety of devices.

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.

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.

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.

Cloning, embryo research and genetic modification are three of the most controversial issues of our time. Is it ethical to use cloning as a means of reproduction? Are embryos people? Is there a difference between removing genetic disease and creating « designer babies? This book will attempt to show that these and other problems are ultimately resolvable, given careful and unbiased application of established ethical principles, many of which underlie common morality. These principles, when applied to the problems of the new genetic technologies, form the basis of a new genetic morality. This book applies established principles of biomedical ethics to the new genetic technologies and examines the ethical implications of reproductive and therapeutic cloning, genetic modification and stem cell research from a deontological and a rule-utilitarian perspective. Finally, it seeks to establish what, if anything, is wrong with each of these practices, and why.

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.

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 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

Pocket Guide to Gene Level Diagnostics in Clinical Practice is an abbreviated, pocket-size, quick-reference guide that provides a point-by-point synopsis of the vast wealth of information contained in CRC Handbook of Gene Level Diagnostics in Clinical Practice. All sections and subsections in the Pocket Guide are cross-referenced to corresponding pages in the Handbook. The book works well on its own as a quick reference, but also can be used in conjunction with the larger Handbook for detailed coverage and references to specific information. Pocket Guide to Gene Level Diagnostics in Clinical Practice also includes extensive supplements featuring material not included in the Handbook. These are intended to provide an up-dated, practical source of information useful to anyone involved in molecular diagnostic research and/or service. Supplements are cross-referenced to the main text of the Pocket Guide, that complement and enhance the material covered. Pocket Guide to Gene Level Diagnostics in Clinical Practice will be a handy reference for professionals and students in pathology, biotechnology, biology, and medicine.

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.