What does it mean to personalise cancer medicine? Drawing on an ethnographic study with cancer patients, carers and practitioners in the UK, this book traces their efforts to access and interpret novel genomic tests, information and treatments as they craft personal and collective futures. Exploring multiple experiences of new diagnostic tests, research programmes and trials, advocacy and experimental therapies, the authors chart the different kinds of care and work involved in efforts to personalise cancer medicine, as well as the ways in which benefits and opportunities are unevenly realised and distributed. Comparing these experiences with policy and professional accounts of the 'big' future of personalised healthcare, the authors show how hope and care are multi-faceted, contingent and, at times, frustrated in the everyday complexities of living and working with cancer. This book is available as an open access ebook under a CC-BY-NC-ND licence. -- .

While some theorists argue that medicine is caught in a relentless process of 'geneticization' and others offer a thesis of biomedicalization, there is still little research that explores how these effects are accomplished in practice. Joanna Latimer, whose groundbreaking ethnography on acute medicine gave us the social science classic The Conduct of Care, moves her focus from the bedside to the clinic in this in-depth study of genetic medicine. Against current thinking that proselytises the rise of laboratory science, Professor Latimer shows how the genetic clinic is at the heart of the revolution in the new genetics. Tracing how work on the abnormal in an embryonic genetic science, dysmorphology, is changing our thinking about the normal, The Gene, the Clinic, and the Family charts new understandings about family, procreation and choice. Far from medicine experiencing the much-proclaimed 'death of the clinic', this book shows how medicine is both reasserting its status as a science and revitalising its dominance over society, not only for now but for societies in the future. This book will appeal to students, scholars and professionals interested in medical sociology, science and technology studies, the anthropology of science, medical science and genetics, as well as genetic counselling.

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)

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)

This book covers recent developments and possible pitfalls in the diagnosis of genetic movement disorders and related conditions. It is divided into three sections: technical and scientific aspects; clinical aspects with guidance towards work-up; and ethical and legal aspects of genetic testing in a clinical and research setting. The first section includes chapters on genetic analysis and counselling with critical discussion of potential problems when interpreting the results. Clinical chapters summarize genetic forms of movement disorders including parkinsonism, tics and dystonia with algorithms for hands-on daily practice. Related conditions such as RLS, ataxias and dementias are also covered. Finally, chapters on ethical and legal aspects of genetic testing are included. Movement Disorder Genetics is aimed at clinicians and scientists working in the field of movement disorders and related conditions.

Ashkenazi Jews have the highest known population risk of carrying specific mutations in the high-risk breast cancer genes, BRCA1 and BRCA2. So what does it mean to be told you have an increased risk of genetic breast cancer because you are of Ashkenazi Jewish origin? In a time of ever-increasing knowledge about variations in genetic disease risk among different populations, there is a pressing need for research regarding the implications of such information for members of high-risk populations. Risky Genes provides first-hand intimate descriptions of women's experiences of being Jewish and of being at increased risk of genetic breast cancer. It explores the impact this knowledge has on their identity and understanding of belonging to a collective. Using qualitative data from high-risk Ashkenazi women in the UK, this book elucidates the importance of biological discourses in forging Jewish self-identity and reveals the complex ways in which biological and social understandings of Jewish belonging intersect. In Risky Genes, Jessica Mozersky reflects upon and offers new insight into the ongoing debates regarding the implications of genetic research for populations, and of new genetic knowledge for individual and collective identity. The book will be of interest to students and scholars of sociology, anthropology, Jewish studies, medical genetics, medical ethics, religious studies, and race and ethnic studies.

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.

Prenatal screening for genetic disorders is becoming an increasingly widespread phenomenon across the globe. While studies have highlighted the importance of women's experiences of such screening, little is known about men's roles and direct involvement in this process. With a focus on the experiences of both women and men, this text offers an innovative and passionate account of the gendered nature of prenatal screening. Drawing on interview data with pregnant women and their male partners in a UK city, Reed provides a compelling analysis of maternal and paternal roles in prenatal screening. Through this analysis, the book raises important issues around genetics, gender and screening practice. With a focus on the gendered production of 'good' and 'bad' genes, the book explores differences between visual technologies and blood screening. It also explores the gendered nature of genetic responsibility and the impact this has on parenting roles. Extending its arguments into other key debates in prenatal genetics - including a focus on the impact of screening on other types of stratification, including ethnicity and class - Reed provides an original and comprehensive analysis of some of the most pressing concerns in the field to date. This book will be of interest to students and scholars of the sociology of health and illness, science and technology studies, gender studies, feminist bioethics and medical anthropology, as well as professionals in the fields of midwifery and genetic counselling.

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.

The cytokines are a group of peptides secreted by cells of the immune system such as macrophages, lymphocytes and T cells. The term cytokine is however simplistic and in fact they can be divided into functional families and have wide ranging effects from cells and molecular pathways to the whole individual. Written by distinguished scholars and experts, this book is a holistic knowledge-base to enable scientists and doctors to understand cytokines in specific or broad detail.

Psychiatric Genetics provides the reader with a complete view of the methodological problems encountered in psychiatry genetics and proposes solutions to commonly occurring questions. The best European and American specialists have given a thorough review on the advantages and disadvantages of genetic epidemiological methods, the way to choose a genetic marker or a clinical interview and how to ascertain patients, unaffected relatives and controls and what should be the criteria to include a case or a control. New phenotypic methods are described focusing on candidate symptom and endophenotype approaches. Examples coming from cognitive neurosciences, biochemistry, electrophysiology and brain imaging techniques are reviewed. This book will serve as an essential handbook for psychiatrists, psychologists, and geneticists involved in the genetics of psychiatric disorders.

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.

How does the genome, interacting with the multi-faceted environment, translate into the development by which the human brain achieves its astonishing, adaptive array of cognitive and behavioral capacities? Why and how does this process sometimes lead to neurodevelopmental disorders with a major, lifelong personal and social impact?

This volume of "Progress in Brain Research" links findings on the structural development of the human brain, the expression of genes in behavioral and cognitive phenotypes, environmental effects on brain development, and developmental processes in perception, action, attention, cognitive control, social cognition, and language, in an attempt to answer these questions.
Leading authors review the state-of-the-art in their field of investigation and provide their views and perspectives for future researchChapters are extensively referenced to provide readers with a comprehensive list of resources on the topics coveredAll chapters include comprehensive background information and are written in a clear form that is also accessible to the non-specialist

Humankind is currently witnessing an unprecedented revolution in the science of genetics but struggling with the moral dilemmas that these advances have created. With the Human Genome Project, gene therapy, and evidence that genes are directly linked to homosexuality, intelligence, and obesity, we see that genetic discoveries may have the power to change the course of human life. Critics condemn genetic technology as "playing God," while optimists promise genetic cures for every disease, an enhanced human nature, or the emancipation of women through technology. Both camps agree that we need to develop a radically new ethics for this era. The Perfect Baby is a clarion call for a more realistic discussion of biotechnology. McGee challenges the common assumption that we are essentially determined by a genetic blueprint. He denies the necessity of a new "Genethics," arguing that the wisdom we need can be found in the everyday experience of parents. The Perfect Baby dramatically alters the terms of the moral debate for parents, policymakers, scientists, philosophers, theologians, and physicians.

As nutrition research is shifting its focus from epidemiology and physiology to effects of nutrients at the molecular level, a uniquely tailored diet that corresponds to the demands of our genetic signature is emerging as an indispensable need. Using high-throughput genomic tools, nutrigenomics unravels the influence of micro- and macronutrients as potent dietary signals regulating metabolic pathways and unmasks how susceptible genotypes are predisposed to diet-related diseases. Selected topics from this field have been covered in some books, but no other comprehensive text on epigenetics, nutrition, and human health and disease is available, until now. This book illustrates nutrition's influence on epigenetic inheritance and the mechanisms underlying the modification of the metabolic imprint of an individual. This enriched understanding of nutrigenomics can be applied to master a tailored diet that can alleviate imprinted metabolic syndromes. Specifically, the book focuses on: * Maternal, perinatal, and neonatal nutrition * Epigenetic mechanisms and cancer * Impacts of dietary factors, folate deficiency and DNA methylation * Nutrition's influence on genetic imprinting * The basics of nutrigenomics and epigenetic regulation

Our series Cancer Prevention - Cancer Control continues to address the causes and prevention of cancer. In this volume, Hill, Elwood, and English bring together a rich resource summarizing the state of science underpinning the primary prevention of skin cancer. While skin cancer causes an increasing burden, particularly in populations of European origin, our understanding of the role of sun exposure together with the genetic components of skin cancer continues to grow. Given the emphasis on evidence-based medicine and public health prevention efforts, it is noteworthy that, although we can all access the same evidence base, countries around the world have had remarkably different responses to the application of this knowledge to prevent skin cancer. The outstanding contribution of the Australian public health community to the scientific understanding of skin cancer etiology and the translation of this knowledge into national prevention efforts uniquely positions the editors to compile this volume focused on the primary prevention of skin cancer. In so doing they draw on an international team of authors to present a "state of the science" summary of skin cancer prevention and to identify those areas where uncertainty remains. To achieve successful prevention of cancer we must translate our scientific knowledge base into effective prevention programs. This book offers the reader keen insights into the depth of our understanding of etiologic pathways for skin cancer. This etiologic science base is complemented by rigorous prevention science placing emphasis on the social context for effective and sustained prevention efforts.

This volume offers readers an opportunity to learn about how genomes are sequenced, what discoveries have so far come out of this scientific revolution, and about the ethical dimensions of this advancing technology. The revised edition focuses on the new advances in genome technology and builds upon the strong basic biological format that was established in the original publication. It also takes advantage of the recent major advances in genome level sequencing and analysis to demonstrate the vast increase in biological knowledge over the past decade.

During our short time on earth, we all undergo the highly complex process of aging, and with it, we experience the many physiological symptoms. Studies of premature aging have produced a great deal of information that gives some aspects of aging a better understanding. This book explores Werner's syndrome. To some, Werner's syndrome is considered a caricature of aging, but others will find it fascinating that only one mutated human gene (WRN) can bring about a multitude of complicated phenotypes that are usually associated with aging.

The development of gene-based technologies has been rapid over the past decade and has consequently resulted in a surge of interest in human gene therapy, the deliberate transfer of genes to somatic cells to cure or alleviate disease symptoms.
Hundreds of clinical protocols involving variously designed vectors for efficient gene transfer have been developed. However, the use of such complex 'gene medicines'’ containing potentially heritable genes has raised numerous concerns regarding quality, efficacy and safety.
Encompassing recent developments in the field and addressing current concerns this book:

• surveys many of the current technologies for preparing vectors for use in gene therapy protocols
• reviews the application of gene-mediated therapies to a range of medical conditions
• considers the regulatory aspects of gene therapy including product quality and safety requirements
• appraises the transfer of technologies from laboratory to clinic with regard to the attendant requirements and facilities for:
• good laboratory practice (GLP) conditions in the R&D laboratory
• large-scale production methods and good manufacturing practice (GMP)
• current in-process and final product testing

Research into the field of stem cell biology has developed exponentially over recent years, and is beginning to offer significant promise for unravelling the molecular basis of a multitude of disease states. Importantly, in addition to offering the opportunity to delve deeply into the mechanisms that drive disease aetiology the research is realistically opening the doors for development of targeted and personalized therapeutic applications that many considered, until recently, to be nothing more that a far fetched dream. This volume provides a timely glimpse into the methods that have been developed to instigate, and the mechanisms that have been identified to drive, the process of nuclear reprogramming, chronicling how the field has developed over the last 50-60 years. Since the early 1950s a small number of notable experiments have provided significant impetus to the field, primarily the demonstration of reprogramming ability, first by the complex cytoplasmic milieu that constitutes the amphibian egg, then that of the mammalian egg, and finally that of the mammalian embryonic stem cell. Most recently, the demonstration that a limited pool of defined molecules is capable of reprogramming a multitude of cell types has provided massive impetus and facilitated transition towards realistic therapeutic application. We have therefore reproduced some of the key articles that elegantly document these dramatic stages of development of the field in an inclusive appendix to the book, for the benefit of readers keen to investigate the history of how the field of stem cell biology has evolved. Owing to the ever broadening nature of this field, and the incredible rate at which it is evolving, the main content of this volume focuses on areas that have shown significant movement in recent years, are most likely to translate into personalized therapeutic application, and thus provide greatest potential for significant impact on human health in the not too distant future. We recognize that research into many other disease states and cell types are all equally worthy of discussion. We would therefore like to acknowledge those researchers involved whose work we have not been able to include in this volume. Nuclear Reprogramming and Stem Cells will serve as a valuable resource for all researchers in the field of stem cell biology, including those just setting out on their career path as well as those already established in the field.

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.

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.

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.

The third edition of Human Malformations and Related Anomalies is a comprehensive reference and clinical guide to significant human malformations. Authored by 40 authorities in genetics and dysmorphology, this streamlined new edition offers an authoritative and richly illustrated guide to clinical presentation, associated anomalies, treatment, and prognosis.