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Books > Medicine > Pre-clinical medicine: basic sciences > Medical genetics
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.
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.
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.
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.
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.
This book offers an authoritative review of biopharmaceuticals and their clinical relevance. Biopharmaceuticals have been showing high therapeutic potential by means of biological and biosimilar medicines, particularly for the treatment of cancer, chronic diseases (e.g. diabetes, Crohn's disease, psoriasis and rheumatoid arthritis), neurodegenerative disorders (e.g. multiple sclerosis), and they have also been contributing to the progress of innovative therapies such as assisted reproductive medicine. Since the eighties, several biopharmaceuticals have been approved and, due to patents expiration, many biosimilars are also marketed. In this book, readers will find the most relevant updated information about the main clinical applications of pharmaceutical biotechnology. The authors provide expert analysis about the industrial challenges of recombinant proteins and the different classes of biopharmaceuticals, including monoclonal antibodies, vaccines, growth factors and stem cells. Topics such as bioprinting technologies in tissue engineering, gene therapy and personalized medicine are also covered in this book. Professionals, students and researchers interested in this field will find this work an important account.
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
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.
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)
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.
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.
Presents the State-of-the-Art in Fat Taste Transduction A bite of cheese, a few potato chips, a delectable piece of bacon a small taste of high-fat foods often draws you back for more. But why are fatty foods so appealing? Why do we crave them? Fat Detection: Taste, Texture, and Post Ingestive Effects covers the many factors responsible for the sensory appeal of foods rich in fat. This well-researched text uses a multidisciplinary approach to shed new light on critical concerns related to dietary fat and obesity. Outlines Compelling Evidence for an Oral Fat Detection System Reflecting 15 years of psychophysical, behavioral, electrophysiological, and molecular studies, this book makes a well-supported case for an oral fat detection system. It explains how gustatory, textural, and olfactory information contribute to fat detection using carefully designed behavioral paradigms. The book also provides a detailed account of the brain regions that process the signals elicited by a fat stimulus, including flavor, aroma, and texture. This readily accessible work also discusses:
Providing a comprehensive review of the literature from the leading scientists in the field, this volume delivers a holistic view of how the palatability and orosensory properties of dietary fat impact food intake and ultimately health. Fat Detection represents a new frontier in the study of food perception, food intake, and related health consequences.
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.
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.
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:
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:
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. |
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