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Books > Medicine > Pre-clinical medicine: basic sciences > Medical genetics
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 book presents a comprehensive and up-to-date overview of phytochemicals as efficient cancer therapeutics. Over the last few decades there has been a paradigm shift from conventional cancer therapeutic approaches to alternative and complementary medicinal approaches especially using phytoconstituents from natural products. As such, the book provides an in-depth understanding of phytochemicals targeting diverse signaling pathways involved in cancer along with the evaluation of the cancer modulatory effects of phytochemicals. It also highlights the potential modulatory effect of single nucleotide polymorphisms (SNPs) on the cancer-associated cellular pathways and their interactions with the phytochemicals. Further, it analyzes the drug delivery methods, bioavailability of active components of botanicals, and toxicity of phytochemicals. Lastly, the book elucidates the 3D cell culture and animal models systems to analyze the beneficial effects of phytochemicals in cancer.
For the average person, genetic testing has two very different faces. The rise of genetic testing is often promoted as the democratization of genetics by enabling individuals to gain insights into their unique makeup. At the same time, many have raised concerns that genetic testing and sequencing reveal intensely personal and private information. As these technologies become increasingly available as consumer products, the ethical, legal, and regulatory challenges presented by genomics are ever looming. Assembling multidisciplinary experts, this volume evaluates the different models used to deliver consumer genetics and considers a number of key questions: How should we mediate privacy and other ethical concerns around genetic databases? Does aggregating data from genetic testing turn people into products by commercializing their data? How might this data reduce or exacerbate existing healthcare disparities? Contributing authors also provide guidance on protecting consumer privacy and safety while promoting innovation.
This book describes novel algorithms based on interval-valued fuzzy methods that are expected to improve classification and decision-making processes under incomplete or imprecise information. At first, it introduces interval-valued fuzzy sets. It then discusses new methods for aggregation on interval-valued settings, and the most common properties of interval-valued aggregation operators. It then presents applications such as decision making using interval-valued aggregation, and classification in case of missing values. Interesting applications of the developed algorithms to DNA microarray analysis and in medical decision support systems are shown. The book is intended not only as a timely report for the community working on fuzzy sets and their extensions but also for researchers and practitioners dealing with the problems of uncertain or imperfect information.
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.
In this informative new book, Dr Emily Kane sets out to banish the current myths about menopause, making the important point that menopause is not a disease condition that requires medical intervention. It is instead, she says, a natural transition to be approached as a new type of freedom. Dr Kane believes that menopause is a gift that allows many of us to live more years. This book is her roadmap for women, to help them navigate their way into, through, and out the other side of menopause - all the while in radiant health.
The new genetic revolution is fuelled by Deep Sequencing (or Next Generation Sequencing) apparatuses which, in essence, read billions of nucleotides per reaction. Effectively, when carefully planned, any experimental question which can be translated into reading nucleic acids can be applied.In Deep Sequencing Data Analysis, expert researchers in the field detail methods which are now commonly used to study the multi-facet deep sequencing data field. These included techniques for compressing of data generated, Chromatin Immunoprecipitation (ChIP-seq), and various approaches for the identification of sequence variants. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of necessary materials and reagents, step-by-step, readily reproducible protocols, and key tips on troubleshooting and avoiding known pitfalls. Authoritative and practical, Deep Sequencing Data Analysis seeks to aid scientists in the further understanding of key data analysis procedures for deep sequencing data interpretation.
Advances in genetics over the past 50 years have been dramatically
changed the understanding and management of inherited disorders,
and are beginning to have a major impact on the practice of
medicine overall. The rapidity of these advances means that
clinicians and scientists in the field are often unfamiliar with
the key research that has led to many developments that now are
accepted and familiar. Few have time to search or the original
papers, which are scattered and often difficult to obtain. This
collection has been edited mainly for medical geneticists and
genetics researchers who wish to learn more about how their field
originated and developed. Brief, clearly written commentaries on
each paper and section place the work in its current context and
serve to unify the different parts of the book. They also help make
it a readable and authoritative source of information.
* Overview of some of the key concepts in epigenetics, chromatin and the interaction with transcription factors * Shows the specific influence of environmental factors to influence or trigger the autoimmune response * Discusses the possibilities of using epigenetics-based therapies in the context of autoimmune diseases * Presents the application of novel methods to characterize the epigenetic profile This volume focuses on the relevance of epigenetic mechanisms in autoimmune disease. It provides new directions for future research in autoimmune disease.
This book presents the state of the art in glycoscience and proposes a road map for the coming decade, focusing on the potential of glycoscience research to shed light on important basic science issues and give rise to exciting new applications, especially in the field of diagnosis and therapeutics. Individual sections offer in-depth coverage of various topics relating to glycans and biopharmaceuticals, glycans in medical science and medicine, glycan technologies, glycans in food and nutrients, and glycan-related materials and their uses. In addition, the book presents an exemplary training course on glycomics and highlights educational and analytical web resources, and also includes glossaries and boxes summarizing key facts to ensure ease of understanding for non-expert readers and students. Written by more than 150 active participants in the Japan Consortium for Glycobiology and Glycotechnology (JCGG), whose goal is to promote the development of interdisciplinary glycoscience and establish a global network in the field, it is a valuable resource for students, postdocs, and researchers in the life sciences as well as for stakeholders and professionals in government, funding agencies and industry.
This detailed volume collects chapters that seek to expand our knowledge of molecular events and extended molecular networks in gene regulation. The contents explore numerous aspects of miRNA biogenesis, a sophisticated series of events that assure a finely tuned regulation of miRNA expression and activity. 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, miRNA Biogenesis: Methods and Protocols aims to contribute to the further development of knowledge and application of miRNA biogenesis, both in the basic research lab and in the clinic.
The fascinating area of Nutrigenomics describes this daily communication between our diet and our genome. This book describes how nutrition shapes human evolution and demonstrates its consequences for our susceptibility to diseases, such as diabetes and atherosclerosis. Inappropriate diet can yield stress for our cells, tissues and organs and then it is often associated with low-grade chronic inflammation. Overnutrition paired with physical inactivity leads to overweight and obesity and results in increased burden for a body that originally was adapted for a life in the savannahs of East Africa. Therefore, this textbook does not discuss a theoretical topic in science, but it talks about real life and our life-long "chat" with diet. We are all food consumers, thus each of us is concerned by the topic of this book and should be aware of its mechanisms. The purpose of this book is to provide an overview on the principles of nutrigenomics and their relation to health or disease. The content of this book is based on the lecture course "Nutrigenomics", which is held since 2003 once per year by Prof. Carlberg at the University of Eastern Finland in Kuopio. The book represents an updated but simplified version of our textbook "Nutrigenomics" (ISBN 978-3-319-30413-7). Besides its value as a textbook, "Nutrigenomics: how science works" will be a useful reference for individuals working in biomedicine
Teil I Naturwissenschaftliche Einfuhrung und internationaler Rechtsrahmen.- Teil II Nationale Regelungen.- Teil III Rechtsvergleichende Untersuchung.
Bacterial pili play important roles as environmental sensors, in host colonization and in biofilm formation, enabling bacteria to interact with the environment, with surfaces and with other bacteria and host cells. Most bacteria, both Gram positive and Gram negative, and almost all bacterial pathogens, are piliated. This book discusses the synthesis, structure, evolution, function and role in pathogenesis of these complex structures, and their basis for vaccine development and therapeutics for Streptococcus pathogens. It is an invaluable resource for researchers and students of medical microbiology.
The study of emotions has rapidly expanded in recent decades, incorporating interdisciplinary research on the genetic underpinnings and neural mechanisms of emotion. This has involved a wide range of methods from as varied fields as behavioral genetics, molecular biology, and cognitive neuroscience, and has allowed researchers to start addressing complex multi-level questions such as: what is the role of genes in individual differences in emotions and emotional vulnerability to psychopathology, and what are the neural mechanisms through which genes and experience shape these emotion? Genes, Brain, and Emotions: Interdisciplinary and translational perspectives offers a comprehensive account of this interdisciplinary field of research, bridging psychology, genetics, and neuroscience, with rich sections dedicated to methods, cognitive and biological mechanisms, and psychopathology. Written by leading researchers who have each inspired new research directions and innovated methods and concepts, this book will be of interest to anyone working or studying in the field of affective science, whether they be behavioural geneticists, psychologists and psychiatrists, or cognitive neuroscientists.
Scientists conducting human genome research are identifying genetic disorders and traits at an accelerating rate. Genetic factors in human behavior appear particularly complex and slow to emerge, yet are raising their own set of difficult ethical, legal, and social issues. In "Behavioral Genetics: The Clash of Culture and Biology," Ronald Carson and Mark Rothstein bring together well-known experts from the fields of genetics, ethics, neuroscience, psychiatry, sociology, and law to address the cultural, legal, and biological underpinnings of behavioral genetics. The authors discuss a broad range of topics, including the ethical questions arising from gene therapy and screening, molecular research in psychiatry, and the legal ramifications and social consequences of behavioral genetic information. Throughout, they focus on two basic concerns: the quality of the science behind behavioral genetic claims and the need to formulate an appropriate, ethically defensible response when the science turns out to be good.
Rosenberg's Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Sixth Edition: Volume Two provides a comprehensive introduction and reference to the foundations and practical aspects relevant to the majority of neurologic and psychiatric disease. This updated volume focuses on degenerative disorders, movement disorders, neuro-oncology, neurocutaneous disorders, epilepsy, white matter diseases, neuropathies and neuronopathies, muscle and neuromuscular junction disorders, stroke, psychiatric disease, and a neurologic gene map. A favorite of over three generations of students, clinicians and scholars, this new edition retains and expands on the informative, concise and critical tone of the first edition. This is an essential reference for general medical practitioners, neurologists, psychiatrists, geneticists, related professionals, and for the neuroscience and neurology research community at large. The content covers all aspects essential to the practice of neurogenetics to inform clinical diagnosis, treatment and genetic counseling.
The three-dimensional organization of the DNA inside the eukaryotic cell nucleus has emerged a critical regulator of genome integrity and function. Increasing evidence indicates that nuclear pore complexes (NPCs), the large protein channels that connect the nucleus to the cytoplasm, play a critical role in the establishment and maintenance of chromatin organization and in the regulation of gene activity. These findings, which oppose the traditional view of NPCs as channels with only one: the facilitation of nucleocytoplasmic molecule exchange, have completely transformed our understanding of these structures. This book describes our current knowledge of the role of NPCs in genome organization and gene expression regulation. It starts by providing an overview of the different compartments and structures of the nucleus and how they contribute to organizing the genome, then moves to examine the direct roles of NPCs and their components in gene expression regulation in different organisms, and ends by describing the function of nuclear pores in the infection and genome integration of HIV, in DNA repair and telomere maintenance, and in the regulation of chromosome segregation and mitosis. This book provides an intellectual backdrop for anyone interested in understanding how the gatekeepers of the nucleus contribute to safeguarding the integrity and function of the eukaryotic genome.
This book will contain the proceedings of the XIV International Symposium on Retinal Degeneration (RD2010), held July 13-17, 2010, in Mont-Tremblant, Quebec, Canada. The volume will present representative state-of-the-art research in almost all areas of retinal degenerations, ranging from cytopathologic, physiologic, diagnostic and clinical aspects; animal models; mechanisms of cell death; candidate genes, cloning, mapping and other aspects of molecular genetics; and developing potential therapeutic measures such as gene therapy and neuroprotective agents for potential pharmaceutical therapy.
This volume provides detailed descriptions of prevailing and novel techniques used by experts in the study of PTEN function in disease and biology. The book begins with chapters exploring methods to detect expression levels of PTEN in normal and diseased human specimens; methods to evaluate specific PTEN function in brain cancer; methods that utilize a new biosensor to measure PTEN regulation; and techniques to measure post-transcriptional regulation of PTEN by micoRNAs and ceRNAs. Other chapters present methods describing novel techniques to detect PTEN localization and previously unstudied structural features of PTEN measured through X-Ray Crystallography and Hydrogen Deuterium Exchange Mass Spectrometry. The book concludes with methods to study PTEN function in model organisms including mice and C. elegans. 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 thorough, PTEN: Methods and Protocols is a valuable collection of methodologies and protocols useful to researchers who are interested in the PTEN field.
This book provides an overview of the role and function of regulatory RNAs that lack protein-coding potential in key reproductive tissues. This includes the role of small interfering RNAs (siRNAs), microRNAs (miRNAs), PIWI-interacting RNAs (piRNAs), small nucleolar RNAs (snoRNAs) and long non-coding RNAs (lncRNAs). Through clear, detailed and comprehensive debate, international leading experts discuss the role these novel regulators in normal development of sexual dimorphisms, including the differentiation of ovaries and testes, the genital tract including prostate, epididymis and uterus, as well as mammary glands. In addition, particular attention is paid on their role in pathophysiological processes within the reproductive tract. The power of next generation sequencing has proved to be an invaluable tool to discover new non-coding RNAs. While the identification of non-coding RNA is relatively easy, analysing their function represents still a challenge today. In this book, authors present historical and conceptual background information, highlight the ways in which non-coding RNAs function is analysed and present their vision of the future research in their key research area.
This book is a broadly historical account of a remarkable and very exciting scientific story-the search for the number of human chromosomes. It covers the processes and people, culminating in the realization that discovering the number of human chromosomes brought as much benefit as unraveling the genetic code itself. With the exception of red blood cells, which have no nucleus and therefore no DNA, and sex cells, humans have 46 chromosomes in every single cell. Not only do chromosomes carry all of the genes that code our inheritance, they also carry them in a specific order. It is essential that the number and structure of chromosomes remains intact, in order to pass on the correct amount of DNA to succeeding generations and for the cells to survive. Knowing the number of human chromosomes has provided a vital diagnostic tool in the prenatal diagnosis of genetic disorders, and the search for this number and developing an understanding of what it means are the focus of this book. |
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