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Books > Medicine > Pre-clinical medicine: basic sciences > Medical genetics
The 3rd World Congress on Genetics, Geriatrics, and Neurodegenerative Disease Research (GeNeDis 2018), focuses on recent advances in genetics, geriatrics, and neurodegeneration, ranging from basic science to clinical and pharmaceutical developments. It also provides an international forum for the latest scientific discoveries, medical practices, and care initiatives. Advanced information technologies are discussed, including the basic research, implementation of medico-social policies, and the European and global issues in the funding of long-term care for elderly people.
This book presents a collection of chapters, which address various contexts and challenges of the idea of human enhancement for the purposes of human space missions. The authors discuss pros and cons of mostly biological enhancement of human astronauts operating in hostile space environments, but also ethical and theological aspects are addressed. In contrast to the idea and program of human enhancement on Earth, human enhancement in space is considered a serious and necessary option. This book aims at scholars in the following fields: ethics and philosophy, space policy, public policy, as well as biologists and psychologists.
This book reviews recent advances in the emerging field of computational network biology with special emphasis on comparative network analysis and network module detection. The chapters in this volume are contributed by leading international researchers in computational network biology and offer in-depth insight on the latest techniques in network alignment, network clustering, and network module detection. Chapters discuss the advantages of the respective techniques and present the current challenges and open problems in the field. Recent Advances in Biological Network Analysis: Comparative Network Analysis and Network Module Detection will serve as a great resource for graduate students, academics, and researchers who are currently working in areas relevant to computational network biology or wish to learn more about the field. Data scientists whose work involves the analysis of graphs, networks, and other types of data with topological structure or relations can also benefit from the book's insights.
In the last decade, several different optical imaging techniques, either based on various voltage or calcium dyes, or more recently on modified fluorescent or bioluminescent proteins (genetically encoded) that are sensitive to calcium, have been developed to study neuronal activity, and especially groups of neurons, with the goal of mapping and deciphering the neural code underlying major neurophysiological functions. Genetically Encoded Functional Indicators brings together expert contributors to present the development of recent genetic techniques that allow for generating genetically encoded activity sensors in order to investigate neuronal activity. Each chapter describes a specific sensor and its utilization to study neuronal activity in a particular way. Written in the Neuromethods series style, chapters contain the kind of key description and implementation advice that guarantees successful results. Helpful and easy to use, Genetically Encoded Functional Indicators aims to inspire students and researchers and to serve as a useful guide to those who wish to start using these different brain imaging techniques and require a bit of guidance in how best to choose a technique to match the goal of their study.
The 3rd World Congress on Genetics, Geriatrics, and Neurodegenerative Disease Research (GeNeDis 2018), focuses on recent advances in genetics, geriatrics, and neurodegeneration, ranging from basic science to clinical and pharmaceutical developments. It also provides an international forum for the latest scientific discoveries, medical practices, and care initiatives. Advanced information technologies are discussed, including the basic research, implementation of medico-social policies, and the European and global issues in the funding of long-term care for elderly people.
This book gives insight into the functional role of non-coding RNAs in central pathways contributing to the development of obesity, type 2 diabetes, non-alcoholic fatty liver disease, atherosclerosis, myocardial infarction, cardiomyopathy, and heart failure. It also sheds light on the relationship of this cluster with cancer. Tumor cells, in contrast to cells in cardiometabolic tissues, can regulate this cluster of non-coding RNAs to escape from oxidative stress and anti-tumor immunity and maintain insulin sensitivity, facilitating cancer progression. The book presents a cluster of non-coding RNAs that may be prospectively analyzed in extensive cohort studies to determine their value in risk-predicting machine learning algorithms. In addition, it emphasizes the role of microvesicles in communication between tumor-adjacent tissue, inflammatory cells, and tumor cells, with a special focus on the role of miR-155. The book intends to promote interdisciplinary research. Due to the comprehensive background information provided in each chapter, it is suitable for researchers in academia and industry and for graduate students in biology, bioengineering, and medicine.
This volume focuses on the analysis of miRNA and its many components such as targets and expression profiling, regulation of gene expression, miRNA detection in biofluids, and its application in cancer and wound healing. The chapters in this book explore topics that's cover biogenesis, isolation and profiling of miRNA, exosomal miRNAs, and the study of the functional significance of miRNAs. The chapters also cover screening miRNAs in mR-302/367 induced iPSCs, exosomal miRNAs from iPSC-derived cardiomyocytes proliferation, and the recently discovered sugar-like RNA glycylglycerins. 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. Cutting-edge and thorough, MicroRNA Protocols, Third Edition is a valuable resource that provides researchers with a comprehensive study of miRNAs and its numerous components and uses.
This essential should serve as an introduction for a contemporary public discussion on genetic engineering. Genetic engineering affects us all in many areas and we must dare to think more colorful and further. In fact, the complete genetic material of viruses and bacteria can already be chemically produced and "brought to life". With genetic surgery, medicine is at a crossroads: do we want to treat hereditary diseases or "repair" them genetically? And the analysis of thousands of human genetic material reveals information that is related to complex diseases, but also to characteristics such as intelligence. How should we use this knowledge? The question is hardly whether we want genetic engineering, but rather how we use it. This Springer essential is a translation of the original German 1st edition essentials, Gentechnik by Roebbe Wunschiers, published by The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Fachmedien Wiesbaden GmbH, part of Springer Nature in 2019. The translation was done with the help of artificial intelligence (machine translation by the service DeepL.com). A subsequent human revision was done primarily in terms of content, so that the book will read stylistically differently from a conventional translation. Springer Nature works continuously to further the development of tools for the production of books and on the related technologies to support the authors.
Neurodevelopmental disorders arise from disturbances to various processes of brain development, which can manifest in diverse ways. They encompass many rare genetic syndromes as well as common, heritable conditions such as intellectual disability, autism, ADHD, schizophrenia and many types of epilepsy. The Genetics of Neurodevelopmental Disorders examines recent revolutionary advances in our understanding of the genetics of these disorders, exploring both basic discoveries and the translation of new findings into the clinical setting. The book begins by examining the genetic architecture and etiology of neurodevelopmental disorders. It describes the striking recent progress in identifying pathogenic mutations, which are grouped here based on the neurodevelopmental processes impacted. Subsequent chapters consider the use of cellular and animal models to elucidate the cascading consequences of such mutations, from molecular and cellular levels to emergent effects on neural circuits, brain systems and subsequent psychological development. The text concludes by examining the important clinical implications of the recent advances in the field, from recognition of the genetic causes in individual patients to development of new treatments and interventions. A timely synthesis, The Genetics of Neurodevelopmental Disorders is a unique and essential resource for neuroscientists, geneticists, neurologists and psychiatrists and an accessible and up-to-date overview for medical and science students.
This book discusses a broad range of basic and advanced topics in the field of protein structure, function, folding, flexibility, and dynamics. Starting with a basic introduction to protein purification, estimation, storage, and its effect on the protein structure, function, and dynamics, it also discusses various experimental and computational structure determination approaches; the importance of molecular interactions and water in protein stability, folding and dynamics; kinetic and thermodynamic parameters associated with protein-ligand binding; single molecule techniques and their applications in studying protein folding and aggregation; protein quality control; the role of amino acid sequence in protein aggregation; muscarinic acetylcholine receptors, antimuscarinic drugs, and their clinical significances. Further, the book explains the current understanding on the therapeutic importance of the enzyme dopamine beta hydroxylase; structural dynamics and motions in molecular motors; role of cathepsins in controlling degradation of extracellular matrix during disease states; and the important structure-function relationship of iron-binding proteins, ferritins. Overall, the book is an important guide and a comprehensive resource for understanding protein structure, function, dynamics, and interaction.
The release of the complete version of the human genome sequence in 2003 has paved the way for defining gene function and genetic background for phenotypic variation in humans and allowed us to study the aging process in a new light. This new volume results from that research and focuses on the genetic and epigenetic process of aging. While the interpretation of the genome data is still in its initial stages, this new volume looks at the evolving understanding of molecular mechanisms involved in cellular processes, gene function associated with complex traits, epigenetic components involve in gene control and the creation of hypothesis-free genome-wide approaches. Longevity Genes: A Blueprint for Aging explores the genetic and genomic elements that can maintain a long life such as DNA damage mechanisms, epigenetics and the way we can use this knowledge to generate customized treatments. It touches on some of the multidisciplinary approaches as well as genomic-wide association technology used to analyze complex traits. This book describes the hunt for genes affecting complex traits using a high throughput technology, with adequate consideration for the selection of an appropriate population, applications of statistical genetics and computational biology, and most importantly, considering phenotype-genotype association studies. Longevity Genes provides coverage of not only established aspects of genetics and aging, but also new approaches and perceptions in this important area of research.
This volume provides a broad overview of issues in the philosophy of behavioral biology, covering four main themes: genetic, developmental, evolutionary, and neurobiological explanations of behavior. It is both interdisciplinary and empirically informed in its approach, addressing philosophical issues that arise from recent scientific findings in biological research on human and non-human animal behavior. Accordingly, it includes papers by professional philosophers and philosophers of science, as well as practicing scientists. Much of the work in this volume builds on presentations given at the international conference, "Biological Explanations of Behavior: Philosophical Perspectives," held in 2008 at the Leibniz Universitat Hannover in Germany. The volume is intended to be of interest to a broad range of audiences, which includes philosophers (e.g., philosophers of mind, philosophers of biology, and metaethicists), as well as practicing scientists, such as biologists or psychologists whose interests relate to biological explanations of behavior. "
This volume explores the latest methods used to study various aspects of TET proteins and their biology. Chapters in this book are divided into five parts. Part One describes technologies aimed at detecting and quantifying DNA methylation turnover using massively parallel sequencing, ELISA, and mass spectrometry approaches. Part Two looks at data analyses protocols for distinguishing acting versus passive DNA demethylation and estimation of 5mC and 5hmC levels. Part Three deals with a new topic that takes advantage of modified CRISPR/Cas9 genome editing systems to target DNA demethylation activity to genomic loci of interest. Part Four discusses protocols that detail how to purify TET proteins and unravel their protein interactions, and Part Five looks at the assessment of TET protein function and activity in vivo and in vitro. 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. Cutting-edge and thorough, TET Proteins and DNA Demethylation: Methods and Protocols is a valuable resource that aims to help research scientists at all levels working in the fields of DNA demethylation dynamics. Chapters 3, 7 and 17 are available open access under a Creative Commons Attribution 4.0 International License via link.springer.com.
"Molecular Genetics of Inherited Eye Disorders" provides an authoritative and up-to-date account of molecular genetic advances in a wide spectrum of genetic eye disorders, and forms the second volume in the Modern Genetics book series. The field has produced some dramatic and often unexpected findings in recent years ranging from the elegant unravelling of the molecular basis of colour vision defects to the subtle complexity of the retinoblastoma gene. The role of crystallins in congenital cataract and of the rhodopsin molecule in retinitis pigmentosa are discussed, illustrating the importance of the "candidate gene" approach to genetic eye disease. "Reverse genetic" approaches to the cloning of genes responsible for aniridia and choroideremia exemplify the power of the new genetic techniques and signal the start of the next experimental phase, in which the functional characterization of identified genes begins. Sections on albinism, retinitis pigmentosa and collagen disorders deal w
Drosophila melanogaster (fruit fly) is a highly versatile model with a genetic legacy of more than a century. It provides powerful genetic, cellular, biochemical and molecular biology tools to address many questions extending from basic biology to human diseases. One of the most important questions in biology is how a multi-cellular organism develops from a single-celled embryo. The discovery of the genes responsible for pattern formation has helped refine this question and has led to other questions, such as the role of various genetic and cell biological pathways in regulating the process of pattern formation and growth during organogenesis. The Drosophila eye model has been extensively used to study molecular genetic mechanisms involved in patterning and growth. Since the genetic machinery involved in the Drosophila eye is similar to humans, it has been used to model human diseases and homology to eyes in other taxa. This updated second edition covers current progress in the study of molecular genetic mechanisms of pattern formation, mutations in axial patterning, genetic regulation of growth, and more using the Drosophila eye as a model.
Heterogeneity, or mixtures, are ubiquitous in genetics. Even for data as simple as mono-genic diseases, populations are a mixture of affected and unaffected individuals. Still, most statistical genetic association analyses, designed to map genes for diseases and other genetic traits, ignore this phenomenon. In this book, we document methods that incorporate heterogeneity into the design and analysis of genetic and genomic association data. Among the key qualities of our developed statistics is that they include mixture parameters as part of the statistic, a unique component for tests of association. A critical feature of this work is the inclusion of at least one heterogeneity parameter when performing statistical power and sample size calculations for tests of genetic association. We anticipate that this book will be useful to researchers who want to estimate heterogeneity in their data, develop or apply genetic association statistics where heterogeneity exists, and accurately evaluate statistical power and sample size for genetic association through the application of robust experimental design.
Genetic disease contributes to a major portion of our health care
costs. While most of the human genetic burden is transmitted from
generation to generation, environmental chemicals capable of
reacting with germ cell DNA could produce new mutations, resulting
in an even greater genetic liability for the next generation. The
potential impact of environmental mutagens on the health and
viability of other living things is important to consider as well.
This is a reference handbook for young researchers exploring gene and cell therapy. Gene therapy could be defined as a set of strategies modifying gene expression or correcting mutant/defective genes through the administration of DNA (or RNA) to cells, in order to treat disease. Important advances like the discovery of RNA interference, the completion of the Human Genome project or the development of induced pluripotent stem cells (iPSc) and the basics of gene therapy are covered. This is a great book for students, teachers, biomedical researchers delving into gene/cell therapy or researchers borrowing skills from this scientific field.
The genotype/phenotype dichotomy is being slowly replaced by a more complex relationship whereby the majority of phenotypes arise from interactions between one's genotype and the environment in which one lives. Interestingly, it seems that not only our lives, but also our ancestors' lives, determine how we look. This newly recognized form of inheritance is known as (epi)genetic, as it involves an additional layer of information on top of the one encoded by the genes. Its discovery has constituted one of the biggest paradigm shifts in biology in recent years. Understanding epigenetic factors may help explain the pathogenesis of several complex human diseases (such as diabetes, obesity and cancer) and provide alternative paths for disease prevention, management and therapy. This book introduces the reader to the importance of the environment for our own health and the health of our descendants, sheds light on the current knowledge on epigenetic inheritance and opens a window to future developments in the field.
Up to date and extensively revised to reflect recent advances in the genetics of common diseases, as well as current progress in gene therapy, Medical Genetics, 6th Edition, delivers easy-to-read, highly visual coverage of this rapidly changing field. This accessible, practical text integrates key concepts with clinical practice, highlighted by numerous illustrations, tables, concept summaries, and more - all designed to enhance effective learning and retention of complex material. Discusses current topics including polygenic risk scores and their potential applications for diabetes, cancer, and heart disease, and the latest sequencing technologies and their clinical application in genetic testing and diagnosis. Offers a completely updated discussion of genetic testing modalities and applications. Includes convenient concept summaries, more than 230 photographs, illustrations, and tables, as well as patient/family vignettes that present valuable perspectives on disease and treatment. Features Clinical Commentary boxes that demonstrate how the hard science of genetics has real applications to everyday patient problems, preparing you for problem-based integrated courses. Illustrates key concepts with disease examples to demonstrate relevance to medicine. Provides study questions for self-assessment, as well as 200 additional USMLE-style questions online. 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 reaches out to a wide variety of professionals in the biomedical field with an interest in inflammatory bowel disease (IBD). Enormous progress has been made in the last few years since the publication of the first edition in the study of complex diseases and IBD, with hundreds of genomic regions identified that are associated with increased risk. Authored by leading clinical and research scientists in the field, the book includes state-of-the art synopses of recent genetic findings, and their interpretation for current and future exploitation in translational approaches to personalized medicine in IBD. The book also covers risk prediction, improved diagnostic and therapeutic precision, dissection of disease phenotypes and subtypes, identification of biomarkers, and host gene-microbiota interactions of clinical relevance.
This Element serves as a welcome to the Cambridge Elements Genetics in Epilepsy series. The series editors look forward to sharing with you the story of epilepsy genetics through a series of Elements. They will bring together many voices, by text as well as video, to illustrate the history of epilepsy genetics, the many on-going efforts in the field, and how they hope to address the still unanswered questions that command the attention of all of us and our colleagues across the globe.
This book provides an introduction to the principles of pharmacogenomics and precision medicine, followed by the pharmacogenomics aspects of major therapeutic areas such as cardiovascular disease, cancer, organ transplantation, psychiatry, infection, antithrombotic drugs. It also includes genotyping technology and therapeutic drug monitoring in Pharmacogenomics; ethical, Legal and Regulatory Issues; cost-effectiveness of pharmacogenetics-guided treatment; application of pharmacogenomics in drug discovery and development and clinical Implementation of Pharmacogenomics for Personalized Precision Medicine. The contributors of Pharmacogenomics in Precision Medicine come from a team of experts, including professors from academic institutions and practitioner from hospital. It will give an in-depth overview of the current state of pharmacogenomics in drug therapy for all health care professionals and graduate students in the era of precision medicine.
This book focuses on state-of-the-art microfluidic research in medical and biological applications. The top-level researchers in this research field explain carefully and clearly what can be done by using microfluidic devices. Beginners in the field -undergraduates, engineers, biologists, medical researchers-will easily learn to understand microfluidic-based medical and biological applications. Because a wide range of topics is summarized here, it also helps experts to learn more about fields outside their own specialties. The book covers many interesting subjects, including cell separation, protein crystallization, single-cell analysis, cell diagnosis, point-of-care testing, immunoassay, embyos/worms on a chip and organ-on-a-chip. Readers will be convinced that microfluidic devices have great potential for medical and biological applications.
The role of epigenetic mechanisms in autoimmune disease is only now starting to become clear. Understanding these mechanisms, their effect on cellular function and the role of environmental factors is vital to determining how to manage these often debilitating and fatal diseases. Drawing on the research of leading experts, this book provides a valuable insight into this important new area of autoimmunity research and a clear, up-to-date view on the major advances in the field. Specific coverage includes: How highly developed epigenetic mechanisms are involved in several aspects of normal immune regulation, in addition to maintaining immune tolerance to self-determinants. Specific epigenetic aspects of human autoimmune diseases, including multiple sclerosis, systemic lupus erythematosus, rheumatoid arthritis, systemic sclerosis, autoimmune diabetes, thyroid autoimmunity, inflammatory bowel disease and autoimmune hepatitis. How understanding epigenetic mechanisms can lead to therapeutic strategies based on manipulation of this previously unexploited facet of immune regulation. Discussion of the novel approaches that are being investigated to prevent or treat autoimmune diseases. This book is an essential resource for those actively involved in the field. It is also of interest to basic researchers interested in understanding the origin of autoimmunity and clinical specialists interested in gaining in-depth understanding of the pathogenesis of autoimmune diseases and their treatment. |
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