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Books > Medicine > Pre-clinical medicine: basic sciences > Medical genetics
Much research has focused on the basic cellular and molecular biological aspects of stem cells. Much of this research has been fueled by their potential for use in regenerative medicine applications, which has in turn spurred growing numbers of translational and clinical studies. However, more work is needed if the potential is to be realized for improvement of the lives and well-being of patients with numerous diseases and conditions. This book series 'Cell Biology and Translational Medicine (CBTMED)' as part of SpringerNature's longstanding and very successful Advances in Experimental Medicine and Biology book series, has the goal to accelerate advances by timely information exchange. Emerging areas of regenerative medicine and translational aspects of stem cells are covered in each volume. Outstanding researchers are recruited to highlight developments and remaining challenges in both the basic research and clinical arenas. This current book is the ninth volume of a continuing series.
Epigenetics of Aging and Longevity provides an in-depth analysis of the epigenetic nature of aging and the role of epigenetic factors in mediating the link between early-life experiences and life-course health and aging. Chapters from leading international contributors explore the effect of adverse conditions in early-life that may result in disrupted epigenetic pathways, as well as the potential to correct these disrupted pathways via targeted therapeutic interventions. Intergenerational epigenetic inheritance, epigenetic drug discovery, and the role of epigenetic mechanisms in regulating specific age-associated illnesses-including cancer and cardiovascular, metabolic, and neurodegenerative diseases-are explored in detail. This book will help researchers in genomic medicine, epigenetics, and biogerontology better understand the epigenetic determinants of aging and longevity, and ultimately aid in developing therapeutics to extend the human life-span and treat age-related disease.
Genomic and Precision Medicine: Cardiovascular Disease, Third Edition, focuses on the applications of genome discovery on the broad spectrum of cardiovascular disorders. Each chapter is organized for the application of genomics and personalized medicine tools and technologies to a) Risk Assessment and Susceptibility, b) Diagnosis and Prognosis, c) Pharmacogenomics and Precision Therapeutics, and d) Emerging and Future Opportunities in the field.
Epigenetic Mechanisms in Cancer provides a comprehensive analysis of epigenetic signatures that govern disease development, progression and metastasis. Epigenetic signatures dictating tumor etiologies present an opportunity for biomarker identification which has broad potential for improving diagnosis, prognosis, prediction, and risk assessment. This volumes offers a unique evaluation of signature differences in childhood, sex-specific and race-specific cancers, and in doing so broadly illuminates the scope of epigenetic biomarkers in clinical environments. Chapters detail the major epigenetic process in humans consisting of DNA methylation, histone modifications and microRNAs (miRNAs) involved in the initiation, progression and metastasis of tumors. Also delineated are recent technologies such as next generation sequencing that are used to identify epigenetic profiles (primarily methylation analysis) in samples (normal, benign and cancerous) and which are highly important to the analysis of epigenetic outcomes.
The adipokines (also called adipocytokines), are a group of peptides secreted by adipose tissue. They have diverse roles, from the cell to the whole body. The book is designed for health scientists, doctors, physiologists, immunologists, biochemists, college and university teachers and lecturers, undergraduates and graduates. The chapters are written either by experts or specialists in their field.
Metagenomics: Perspectives, Methods, and Applications provides thorough coverage of the growing field of metagenomics. A diverse range of chapters from international experts offer an introduction to the field and examine methods for metagenomic analysis of microbiota, metagenomic computational tools, and recent metagenomic studies in various environments. The emphasis on application makes this text particularly useful for applied researchers, practitioners, clinicians and students seeking to employ metagenomic approaches to advance knowledge in the biomedical and life sciences. Case-study based application chapters examine topics ranging from viral metagenome profiling, metagenomics in oral disease and health, metagenomic insights into the human gut microbiome and metabolic syndromes, and more. Additionally, perspectives on future potential at the end of each chapter provoke new thought and motivations for continued study in this exciting and fruitful research area.
Genetics of Bone Biology and Skeletal Disease, Second Edition, is aimed at students of bone biology and genetics and includes general introductory chapters on bone biology and genetics. More specific disease orientated chapters comprehensively summarize the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder. The book is organized into five sections that each emphasize a particular theme, general background to bone biology, general background to genetics and epigenetics, disorders of bone and joint, parathyroid and related disorders, and vitamin D and renal disorders. The first section is specifically devoted to providing an overview of bone biology and structure, joint and cartilage biology, principles of endocrine regulation of bone, and the role of neuronal regulation and energy homeostasis. The second section reviews the principles and progress of medical genetics and epigenetics related to bone disease, including genome-wide association studies (GWAS), genomic profiling, copy number variation, prospects of gene therapy, pharmacogenomics, genetic testing and counseling, as well as the generation and utilizing of mouse models. The third section details advances in the genetics and molecular biology of bone and joint diseases, both monogenic and polygenic, as well as skeletal dysplasias, and rarer bone disorders. The fourth section highlights the central role of the parathyroids in calcium and skeletal homeostasis by reviewing the molecular genetics of: hyperparathyroidism, hypoparathyrodism, endocrine neoplasias, and disorders of the PTH and calcium-sensing receptors. The fifth section details molecular and cellular advances across associated renal disorders such as vitamin D and rickets.
This detailed volume explores the methods used for most of the recent approaches to suicide gene therapy of cancer, which exploits promoters that are specific to cancer cells, thereby ensuring (or greatly increasing the likelihood) that the therapeutic gene is expressed only in cancer cells. The book also contains chapters describing methods to improve the safety of cell therapy and techniques utilizing bone marrow mesenchymal cells. Written for the highly successful Methods in Molecular Biology series, 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, Suicide Gene Therapy: Methods and Protocols serves as an ideal guide for researchers expanding upon our knowledge and application of this vital form of cancer therapy.
This volume provides a collection of protocols for the most common experimental methods used for engineering Yarrowia lipolytica. Chapters detail the basic theories underlying the methods described in each chapter. 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 cutting-edge, Yarrowia lipolytica: Methods and Protocols aims to provide experimentalists with a full account of the practical steps necessary for carrying out each protocol successfully.
Endocrine Biomarkers: Clinical Aspects and Laboratory Determination covers all the pre-analytical variables that can affect test results, both in the clinic and laboratory. Biomarkers of endocrine and bone diseases are discussed from both clinical and laboratory perspectives, and the authors elaborate on the teamwork-based app+roach between the clinician and the laboratory professional in the diagnosis and management of endocrine and bone disorders. Discussions include test utilization, laboratory measurement methods, harmonization and standardization, interpretation of results, and reference intervals. Each chapter ends with a discussion of one or two relevant cases with shared opinions from both a clinician and a clinical chemist. Each chapter also includes a summary box outlining key points and common pitfalls in the use of specific disease biomarkers and tests.
Imaging Genetics presents the latest research in imaging genetics methodology for discovering new associations between imaging and genetic variables, providing an overview of the state-of the-art in the field. Edited and written by leading researchers, this book is a beneficial reference for students and researchers, both new and experienced, in this growing area. The field of imaging genetics studies the relationships between DNA variation and measurements derived from anatomical or functional imaging data, often in the context of a disorder. While traditional genetic analyses rely on classical phenotypes like clinical symptoms, imaging genetics can offer richer insights into underlying, complex biological mechanisms.
The second edition of this textbook written for undergraduate students, graduate students and medical researchers, Genetics and Genomics in Medicine explains the science behind the uses of genetics and genomics in medicine today, and how it is being applied. Maintaining the features that made the first edition so popular, this second edition has been thoroughly updated in line with the latest developments in the field. DNA technologies are explained, with emphasis on the modern techniques that are revolutionizing the use of genetic information in medicine and indicating the role of genetics in common diseases. Epigenetics and non-coding RNA are covered in-depth as are genetic approaches to treatment and prevention, including pharmacogenomics, genetic testing, and personalized medicine. A dedicated chapter charts the latest insights into the molecular basis of cancers, cancer genomics and novel approaches to cancer detection. Coverage of genetic testing at the level of genes, chromosomes and genomes has been significantly expanded and updated. Extra prominence has been given to additional genomic analyses, ethical aspects, and novel therapeutic approaches. Various case studies illustrate selected clinical applications. Key Features Comprehensive and integrated account of how genetics and genomics affect the entire spectrum of human health and disease Exquisite artwork illuminates the key concepts and mechanisms Summary points at the end of each chapter help to consolidate learning For each chapter, an abundance of further reading to help provide the reader with direction for further study Inclusive online question bank to test understanding Standard boxes summarizing certain key principles in genetics Clinical boxes summarizing selected case studies, pathogenesis mechanisms or novel therapies for selected diseases This book is equally suited for newcomers to the field as well as for engineers and scientists that have basic knowledge in this field but are interested in obtaining more information about specific future applications..
In recent years, the development of new technologies capable of monitoring genome function has resulted in fewer hopeful estimates and increasingly solid depictions of genome output from individual samples. Genomics in Endocrinology focuses on exciting new advances in endocrinology resulting from DNA microarray studies and includes a comprehensive introduction to the use of DNA microarrays in endocrinology. The volume provides the basis for further understanding of the usefulness of microarray analyses in endocrinology research. Topics discussed are the methodology of DNA microarrays and general methods for the analysis of microarray data, as well as studies of a wide variety of normal and abnormal endocrine cells. In the introductory chapter, the volumea (TM)s editors describe several issues in hypothesis formulation, experimental design, data analysis, and follow-up studies that may corroborate, validate, and extend hypotheses gained through microarray analyses. The contributed chapters span a variety of applications that we have divided into the areas of (1) genomic insights into molecular mechanisms responsible for hormone action, (2) genomic characterizations of endocrine producing tissues, and (3) genomic manifestations of diseases of hormonal systems. A volume on the cutting-edge of technology, Genomics in Endocrinology will provide researchers with an authoritative volume on the most recent advances in monitoring genome function.
Drawing on fieldwork with British Pakistani clients of a UK genetics service, this book explores the personal and social implications of a 'genetic diagnosis'. Through case material and comparative discussion, the book identifies practical ethical dilemmas raised by new genetic knowledge and shows how, while being shaped by culture, these issues also cross-cut differences of culture, religion and ethnicity. The book also demonstrates how identifying a population-level elevated 'risk' of genetic disorders in an ethnic minority population can reinforce existing social divisions and cultural stereotypes. The book addresses questions about the relationship between genetic risk and clinical practice that will be relevant to health workers and policy makers.
miRNA and Cancer, Volume 135, the latest volume in the Advances in Cancer Research series, provides invaluable information on the exciting and fast-moving field of cancer research. This volume presents original reviews on research bridging oncology and gene expression, and includes specific chapters on Non-coding RNAs as Biomarkers of Cancer, The Enigma of microRNA Regulation in Cancer, Animal Models to Study microRNA functions, Non-coding RNAs and Cancer, microRNAs in Cancer Susceptibility, ts-RNAs versus microRNAs, microRNAs and AML, and microRNAs and Epigenetics.
Central to the synthesis of proteins, the performance of catalysis, and many other physiological processes, the aberrant expression of which can be linked to human diseases including cancers, RNA has proven to be key target for therapeutics as well as a tool for therapy. In RNA Therapeutics: Function, Design, and Delivery, expert contributors from a broad spectrum of scientific backgrounds highlight the roles that messenger RNAs and small RNAs can play in biology and medicine. While covering the five major RNA-based drugs, namely the use of ribozymes to cleave and/or correct mRNA transcript, the use of siRNA for targeted silencing of gene transcripts, the use of aptamers, like short RNA molecules, for neutralizing the protein functions, the use mRNA-transfected DCs to activate immune system against tumor cells, as well as the use of RNA to reprogram T and/or DC cell function, this extensive volume brings together the fields of coding (mRNA) and non-coding RNA such as ribozymes, RNAse P, siRNAs, and miRNAs into one convenient source. Written in the highly successful Methods in Molecular Biology (TM) series format, the cutting-edge protocol chapters contain introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and practical tips on troubleshooting and avoiding known pitfalls. Also, the book contains several excellent reviews for teaching purposes. Authoritative and comprehensive, RNA Therapeutics: Function, Design, and Delivery provides key models and tools which will assist researchers in increasing our understanding of RNA functions, modifications, and their involvement in diseases in order to lead to the design of vital new RNA-based therapeutics.
Unravelling Complexities in Genetics and Genomics: Impact on Diagnosis Counseling and Management reviews recent advances in defining genetic and genomic factors that play important roles in diseases in humans. It includes discussions on new technologies in DNA and RNA sequencing, genome analysis, and bioinformatics applied to the study of patients with specific disorders and to normal populations, and illustrates how modern molecular techniques can improve diagnoses and enable the design of specific targeted therapies and methods of prevention. Additional emphasis is placed on the genetic variants and genomic risk factors related to the development of complex common disorders, including neurobehavioral and neurocognitive disorders in children and adults and late onset disorders in adults, including atherosclerosis, type 2 diabetes, cancer, and neurodegenerative disorders.Physicians, nurses, genetic counselors, graduate students in genetics and genomics will find this book a valuable read.
Profound mortality rates, due to cardiovascular disease, are a worldwide problem. Cardiovascular disease results from complications of a silent and chronic arterial disease: atherosclerosis. The challenge for the practitioner is adapting diagnostic and therapeutic responses to prevent this common and complex disease. Dyslipidemia, are disorders of the metabolism of soluble transporters of lipids in extracellular spaces of the human body (including blood), called lipoproteins. They are major cardiovascular risk factors, causally related with atherosclerosis and are themselves multifactorial diseases, resulting from interactions between genetic and environmental factors. The study of genetic factors has recently taken a new path with the study of DNA as an experimental object. More than fifty genes of lipoprotein metabolism have been identified in both their physiological actions and their contribution to the pathogenesis of human dyslipidemia. The diversity of observations has refined our current knowledge of the control of lipid metabolism and energy homeostasis in living organisms beyond the limits of the cardiovascular system (e.g., brain, immune system, and development). These studies have given way to a shake-up of former phenotypic classifications, distinguishing new entities, defining targeted therapeutic strategies, providing a basis for different patterns of disease distribution in human populations.
Pharmacogenetics, the use of genetic testing to prescribe and develop drugs, has been hailed as a revolutionary development for the pharmaceutical industry and modern medicine. Supporters of 'personalised medicine' claim the result will be safer, cheaper, more effective drugs, and their arguments are beginning to influence policy debates. Based on interviews with clinicians, researchers, regulators and company representatives, this book explores the impact of pharmacogenetics on clinical practice, following two cases of personalised medicine as they make their way from the laboratory to the clinic. It highlights the significant differences between the views of supporters of pharmacogenetics in industry and those who use the technology at the clinical 'coal face'. Theoretically, this work builds on the developing area of the sociology of socio-technical expectations, highlighting the way in which promoters of new technologies build expectations around it, through citation and the creation of technological visions.
This book gives an overview of the potential and the practical details that need to be resolved in order to make human germline engineering possible. It presents the ethical and social concerns, and implications of our fast-approaching capability to alter our own germline and take an active role in the future evolution of our own species. It provides explanations of how we have arrived at the capability to clone higher animals, and discusses the implications for human therapies and for our own future when these techniques are applied to the human germline.
This book centers on gene therapy and gene transfer approaches to prevent or treat chronic virus infections. The main focus is on the Big Three: human immunodeficiency virus (HIV-1), hepatitis B virus (HBV) and hepatitis C virus (HCV). Ample anti-HIV drugs are currently available in the clinic and the development of an effective combination therapy has dramatically improved the lifespan and quality of life of infected individuals. A similar trend can already be recognized for HBV and HCV: the development of multiple (directly acting) antiviral drugs and plans to control or even cure the infection. However, approaches that help prevent infection, or which provide long-lasting treatment (such as a cure) remain important goals. Immunization through gene transfer vehicles encoding immunogenic viral proteins shows promise in preventing infections with complex, highly variable, viruses such as HIV-1 or HCV. Gene therapy applications for virus infections have been discussed since the early 1990's. Whereas a true cure seems difficult to achieve for HIV-1 due to its intrinsic property to deposit its genome into that of the host, such attempts may be within reach for HCV where spontaneous viral clearance occurs in a small percentage of the infected individuals. The prospect of original gene therapy approaches may provide alternative ways to reach the same endpoint by, for example, silencing of CCR5 expression post-transcriptionally. Many alternative antiviral strategies have been developed based on a variety of novel molecular methods: e.g. ribozymes. Some studies have progressed towards pre-clinical animal models and a few antiviral gene therapies have progressed towards clinical trials. This book provides an overview of this rapidly progressing field, while focusing on the interface of gene therapy and immunology/vaccinology.
The Trouble with Twin Studies questions popular genetic explanations of human behavioral differences based upon the existing body of twin research. Psychologist Jay Joseph outlines the fallacies of twin studies in the context of the ongoing decades-long failure to discover genes for human behavioral differences, including IQ, personality, and the major psychiatric disorders. This volume critically examines twin research, with a special emphasis on reared-apart twin studies, and incorporates new and updated perspectives, analyses, arguments, and evidence.
Recent advances in high-throughput gene sequencing and other omics biotechnologies have served as a springboard for the field of pharmacogenomics. Pharmacogenomics is now generally accepted as the major determinant of variable drug safety, efficacy, and cost-effectiveness. Therefore, widespread use of pharmacogenomics for patient care has become a critical requirement. There is an unprecedented urgency for aspiring and practicing clinicians to become trained on how to interpret data from pharmacogenomic testing in preparation for the future of healthcare-i.e., personalized medicine. Applying Pharmacogenomics in Therapeutics provides timely coverage of the principles, practice, and potential of pharmacogenomics and personalized medicine. Comprised of chapters contributed by well-established pharmacologists and scientists from US and Chinese academia and industry, this authoritative text: Demonstrates how to apply the principles of pharmacogenomics and its biotechnologies in patient care Depicts the use of genetic biomarkers in drug discovery and development, laboratory medicine, and clinical services Describes the practice of pharmacogenomics in the treatment of cancers, cardiovascular diseases, neurologic and psychiatric disorders, and pulmonary diseases Discusses the merging of pharmacogenomics and alternative medicine, as well as the integration of pharmacogenomics into pharmacoeconomics Each chapter begins with the key concepts, followed by in-depth explorations of case reports or critical evaluations of genetic variants/biomarkers, and concludes with questions for self-examination.
Psychopathy: The Basics is an accessible text that provides a compact introduction to the major findings and debates concerning this complex personality disorder. The book provides an overview of the field and covers a wide range of research findings from genetics to psychosocial developmental explanations. It begins with an exploration of the historical conception of the phenomenon of psychopathy and goes on to discuss its social and cultural accounts. It also delves into biologically based explanations including genetic and evolutionary approaches along with criminological and entrepreneurial types of psychopathy. Offering a balanced perspective, the book addresses the nature-nurture debate in the field and also discusses widely accepted personality traits of psychopaths. Lastly, it also provides a glossary of key terms and suggestions for further reading This text will be an essential read for students of forensic psychology, or criminology. It is also an ideal starting point for those interested in the science of psychopathy and personality disorders. |
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