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 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.

Fungal pathogens pose an on-going and serious threat for poikilotherms and homeotherms, and can cause a broad spectrum of diseases ranging from innocuous to life-threatening. In addition, long-term exposure to some mycotoxigenic moulds can lead to mycotoxicoses in human and animals. Given the expanding population of immune compromised hosts, the list of fungal opportunists grows longer every year. Moreover, antifungal resistance, drug-related toxicity and our limited arsenal of antifungals have exacerbated the situation. To address these problems, strategies such as the identification of novel targets, use of the structure-activity relationship in rational drug design, development of new formulations, modification of existing antifungals to combat resistance, and bioavailability enhancement are called for. For the reader's convenience, this book has been divided into three sections. The first six chapters of Section I provide a timely review of mycoses, from endemic to cosmopolitan and from generalized to specific, while both chapters of Section II focus on risks associated with mycotoxins. In closing, the two chapters of Section III describe potential antifungal leads and drug candidates based on phytochemicals and coumarin scaffold.

Bioinformatics is an integrative field of computer science, genetics, genomics, proteomics, and statistics, which has undoubtedly revolutionized the study of biology and medicine in past decades. It mainly assists in modeling, predicting and interpreting large multidimensional biological data by utilizing advanced computational methods. Despite its enormous potential, bioinformatics is not widely integrated into the academic curriculum as most life science students and researchers are still not equipped with the necessary knowledge to take advantage of this powerful tool. Hence, the primary purpose of our book is to supplement this unmet need by providing an easily accessible platform for students and researchers starting their career in life sciences. This book aims to avoid sophisticated computational algorithms and programming. Instead, it focuses on simple DIY analysis and interpretation of biological data with personal computers. Our belief is that once the beginners acquire these basic skillsets, they will be able to handle most of the bioinformatics tools for their research work and to better understand their experimental outcomes. Our second title of this volume set In Silico Life Sciences: Medicine provides hands-on experience in analyzing high throughput molecular data for the diagnosis, prognosis, and treatment of monogenic or polygenic human diseases. The key concepts in this volume include risk factor assessment, genetic tests and result interpretation, personalized medicine, and drug discovery. This volume is expected to train readers in both single and multi-dimensional biological analysis using open data sets, and provides a unique learning experience through clinical scenarios and case studies.

Reprogenetic technologies, which combine the power of reproductive techniques with the tools of genetic science and technology, promise prospective parents a remarkable degree of control to pick and choose the likely characteristics of their offspring. Not only can they select embryos with or without particular genetically-related diseases and disabilities but also choose embryos with non-disease related traits such as sex. Prominent authors such as Agar, Buchanan, DeGrazia, Green, Harris, Robertson, Savulescu, and Silver have flocked to the banner of reprogenetics. For them, increased reproductive choice and reduced suffering through the elimination of genetic disease and disability are just the first step. They advocate use of these technologies to create beings who enjoy longer and healthier lives, possess greater intellectual capacities, and are capable of more refined emotional experiences. Indeed, Harris and Savulescu in particular take reprogenetic technologies to be so valuable to human beings that they have insisted that their use is not only morally permissible but morally required. Rethinking Reprogenetics challenges this mainstream view with a contextualised, gender-attentive philosophical perspective. De Melo-Martin demonstrates that you do not have to be a Luddite, social conservative, or religious zealot to resist the siren song of reprogenetics. Pointing out the flawed nature of the arguments put forward by the technologies' proponents, Rethinking Reprogenetics reveals the problematic nature of the assumptions underpinning current evaluations of these technologies and offers a framework for a more critical and sceptical assessment.

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 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.

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.

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.

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.
The papers chosen fall into several groups. First are classic descriptions of important genetic disorders, often from the pre-mendelian era. The following sections deal with the definition of human mendelian inheritance, the origins of human cytogenetics, the early development of the human gene map and the transition from biochemical genetics to human molecular genetics, the relatively recent studies that have shown how mendelian principles are increasingly modifiable, and finally advances in the treatment and management of genetic disorders, which are placed in their social context.

* 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 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.

Teil I Naturwissenschaftliche Einfuhrung und internationaler Rechtsrahmen.- Teil II Nationale Regelungen.- Teil III Rechtsvergleichende Untersuchung.

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.

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.

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.

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 provides a cutting-edge review of polyglutamine disorders. It primarily focuses on two main aspects: (1) the mechanisms underlying the pathologies' development and progression, and (2) the therapeutic strategies that are currently being explored to stop or delay disease progression. Polyglutamine (polyQ) disorders are a group of inherited neurodegenerative diseases with a fatal outcome that are caused by an abnormal expansion of a coding trinucleotide repeat (CAG), which is then translated in an abnormal protein with an elongated glutamine tract (Q). To date, nine polyQ disorders have been identified and described: dentatorubral-pallidoluysian atrophy (DRPLA); Huntington's disease (HD); spinal-bulbar muscular atrophy (SBMA); and six spinocerebellar ataxias (SCA 1, 2, 3, 6, 7, and 17). The genetic basis of polyQ disorders is well established and described, and despite important advances that have opened up the possibility of generating genetic models of the disease, the mechanisms that cause neuronal degeneration are still largely unknown and there is currently no treatment available for these disorders. Further, it is believed that the different polyQ may share some mechanisms and pathways contributing to neurodegeneration and disease progression.

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.