This 7th edition is a milestone in the series of Inborn Metabolic Diseases (IMD), recognised as the standard textbook for professionals involved in the diagnosis and management of IMD. Within the last 5 years a Copernican revolution in our understanding of IMD has changed the definition, concepts, paradigms, and classification. This new edition now extends the concept of IMD to include those disturbances in molecular machinery diagnosed by molecular techniques but currently without measurable metabolic markers. The book presents a clinical and biochemical approach to the diagnosis and management of IEM with many diagnostic algorithms for patients of all ages and with a particular focus on neurological presentations. It includes separate, comprehensive sections on IEM classified in 3 major pathophysiological categories: disorders of energy metabolism, both mitochondrial and non-mitochondrial; small molecule disorders, mostly diagnosed with metabolic markers; and complex molecules disorders, mostly diagnosed with molecular techniques. Two new chapters were added, describing around 600 disorders of nucleic acid metabolism, tRNA metabolism, ribosomal biogenesis, and cellular trafficking.

Neuroepigenetics and Mental Illness, Volume 158, the latest release in the Progress in Molecular Biology and Translational Science series, seeks to provide the most topical, informative, and exciting monographs available on a wide variety of research topics related to prions, viruses, bacteria and eukaryotes. The series seeks to provide readers with in-depth knowledge of important molecular biological aspects of organismal physiology and function, with this release focusing on Neuroepigenetics in mental illness, Neuroepigenetics of development and neurodevelopmental disorder, Neuroepigenetics of aging and age-related neurodegenerative disorders, Neuroepigenetics of prenatal psychological stress, Neuroepigenetics of the HPA axis, Neuroepigenetics of the serotonergic system, and more.

Covers research on gene drives in Anopheline mosquitoes for malaria control, including aspects from field trials, modelling, risk assessment, regulatory processes, and ethical/political considerations Includes contributions from international leaders in the field Illustrated throughout with figures and references

Pocket Guide to Gene Level Diagnostics in Clinical Practice is an abbreviated, pocket-size, quick-reference guide that provides a point-by-point synopsis of the vast wealth of information contained in CRC Handbook of Gene Level Diagnostics in Clinical Practice. All sections and subsections in the Pocket Guide are cross-referenced to corresponding pages in the Handbook. The book works well on its own as a quick reference, but also can be used in conjunction with the larger Handbook for detailed coverage and references to specific information. Pocket Guide to Gene Level Diagnostics in Clinical Practice also includes extensive supplements featuring material not included in the Handbook. These are intended to provide an up-dated, practical source of information useful to anyone involved in molecular diagnostic research and/or service. Supplements are cross-referenced to the main text of the Pocket Guide, that complement and enhance the material covered. Pocket Guide to Gene Level Diagnostics in Clinical Practice will be a handy reference for professionals and students in pathology, biotechnology, biology, and medicine.

This fourth, updated edition contains the latest developments in preanalytical knowledge. An international team of authors summarizes the information on biological influences, analytical interferences and on the variables affecting the collection, transport and storage, as well as preparation of samples. In so doing, they cover age, gender, race, pregnancy, diet, exercise and altitude, plus the effects of stimulants and drugs. National and international standards are described for sampling procedures, transport, sample identification and all safety aspects, while quality assurance procedures are shown for total laboratory management.

In addition, this practical book is rounded off by a glossary explaining all terms being used.

This book is a must-have for everyone involved in patient care and using or performing laboratory tests.

Delineating fundamental concepts of contemporary immunogenetics, this reference/text examines specific immunogenetic systems in terms of molecular biochemistry and immunophysiology. Covers material in diverse fields, including infectious diseases, cell biology, virology, molecular genetics. Comprise

'Beautiful to read and packed with cutting-edge science' Observer 'Poetic, mind-stretching and, through it all, deeply human' Daniel Levitin Mental illness is one of the greatest causes of human suffering, its nature and origin a long-held mystery. But thanks to new science and technology, our understanding has reached a tipping point. In Connections, Professor Karl Deisseroth intertwines his own breakthrough discoveries with moving case studies from his experience as an emergency psychiatry physician, in order to tell a wider story about the origins of human emotion. Addressing some of the most timeless questions about the human condition while illuminating the roots of misunderstood disorders such as depression, psychosis, schizophrenia and sociopathy, Connections transforms the way we understand the brain, and forges a bold new path forward in our understanding of mental health. 'Revelatory . . . it recalls the case histories of Oliver Sacks, at times the sweep of Yuval Harari's Sapiens. He writes with an evident love of words - but also, with a lucid line of scientific enquiry' Guardian 'A master storyteller. His graceful prose weaves a tapestry of complex ideas into memorable stories, each illuminated by cutting-edge science. A delight' Kathryn Mannix, author of With the End in Mind

Alcohol and Its Biomarkers: Clinical Aspects and Laboratory Determination is a concise guide to all currently known alcohol biomarkers, their clinical application, and the laboratory methods used to detect them. Pathologists can use this resource to understand the limitations and cost factors associated with each method for determining certain alcohol biomarkers. In addition, interferences in these determinations are discussed, so that clinicians can understand the causes of falsely elevated biomarkers and pathologists and laboratory scientists can potentially eliminate them. The book focuses on the analytical methods used to detect alcohol in blood and urine, the limitations of alcohol determination using enzymatic methods, and the differences between clinical and forensic alcohol measurement. Chapters also cover cutting-edge alcohol biomarkers for potential use.

Genome-editing methods are becoming routine tools for molecular and cell biologists. Such tools include ZFNs, CRISPR, megaTALs and TALENs. These tools are revolutionizing the creation of precisely manipulated genomes to modify the characteristics of organisms or cells. Additionally, gene drives have altered the way we understand inheritance laws. They give us the ability to have total control of the inheritance of traits of choice and importance. This succinct volume summarizes the history, principles and applications - as well as the advantages and disadvantages - of each of these tools and various kinds of gene drives. The book is part of a program to produce books helpful to students and faculties of science at colleges and universities. This volume in the Pocket Guides to Biomedical Sciences series will help demystify these technologies. The book fills the gap between established conventional methods and the novel and exciting newly introduced tools of genome editing and gene drives. It will help young scientists understand the emerging genome-editing tools and gene drives, thereby promoting related research and adoption. Key Features Extensively reviews the current genome-editing tools and gene drives Clarifies the targeting mechanisms and specificity of genome-editing tools Details many different types of natural and synthetic gene drives Highlights concerns with gene drives and genome-editing tools Related Titles Brown, T. A. Genomes 4 (ISBN 978-0-8153-4508-4) Samuelsson, T. The Human Genome in Health and Disease: A Story in Four Letters (ISBN 978-0-8153-4591-6) Soh, J., et al. Genome Annotation (ISBN 978-1-4398-4117-4)

"Immune Biology of Allogeneic Hematopoietic Stem Cell Transplantation" provides clinical and scientific researchers with a deep understanding of the current research in this field and the implications for translational practice. By providing an overview of the immune biology of HSCT, an explanation of immune rejection, and detail on antigens and their role in HSCT success, this book embraces biologists and clinicians who need a broad view of the deeply complex processes involved. It then moves on to discuss the immunobiology mechanisms that influence graft-versus-host disease (GVHD), graft-versus-leukemia (GVL) effect, and transplantation success. Using illustrative figures, highlighting key issues, describing recent successes and discussing unanswered questions, this book sums up the current state of HSCT to enhance the prospects for the future.

Allogeneic HSCT is a medical procedure in which a patient receives blood-forming stem cells from a genetically similar but not identical donor. This procedure is commonly performed for people with diseases of the blood, bone marrow, or certain cancers, but it remains risky with many possible complications. As such, experimental practice is reserved for preclinical animal models including the mouse and dog.

These animal models have been essential in developing transplant protocols, including preclinical testing of conditioning regimens, treatment of GVHD, and understanding the pathology of GVHD as well as the immunological mechanisms of GVHD and GVL effect. However, recent research has revealed significant species differences between humans and animal models that must be considered when relating animal model studies to clinical allogeneic HSCT scenarios.
Brings together perspectives leading laboratories and clinical research groups to highlight advances from bench to the bedsideGuides readers through the caveats that must be considered when drawing conclusions from studies with animal models before correlating to clinical allogeneic HSCT scenariosCategorizes the published advances in various aspects of immune biology of allegeneic HSCT to illustrate opportunities for clinical applications

New Clinical Genetics continues to offer the most innovative case-based approach to investigation, diagnosis, and management in genomic medicine. New Clinical Genetics is used worldwide as a textbook for medical students, but also as an essential guide to the field for genetic counselors, physician assistants, clinical and nurse geneticists, and students studying healthcare courses allied to medicine. Readers love the integrated case-based approach which ties the science to real-life clinical scenarios to really aid understanding. Clinical genetics is a fast-moving field and there have been many advances in the few years since the previous edition was published. This 4th edition has been completely updated and revised to reflect new science, new techniques and new ways of thinking. Nowhere is this more clear than in the chapter discussing genetics services which is now significantly expanded to reflect the increasing role of genomic medicine and the use of multidisciplinary teams in the management of patients with genetic disorders. The unique case-based structure and format remains the same, but substantial new material has been added to cover: polygenic risk scores - now starting to become useful clinical service tools preimplantation diagnosis noninvasive prenatal diagnosis companion diagnostics for prescribed drugs liquid biopsies in cancer epigenetics and gene regulation the widespread use of next-generation sequencing as a routine diagnostic tool the checking of a patient's whole exome for the cause of their problem

A conceptual approach to success in genetics With Genetics: A Conceptual Approach, Ben Pierce brings a master teacher's experiences to the introductory genetics textbook, clarifying this complex subject by focusing on the big picture of genetics concepts and how those concepts connect to one another. The new 7th edition continues this mission by expanding upon the powerful pedagogy and tools that have made this title so successful. New question types, more learning guidelines for students, and an updated art program round out a powerful text. Genetics: A Conceptual Approach is now supported in Achieve, Macmillan's new online learning platform. Achieve is the culmination of years of development work put toward creating the most powerful online learning tool for biology students. It houses all of our renowned assessments, multimedia assets, e-books, and instructor resources in a powerful new platform.

Second edition of the only comprehensive and student-friendly introduction to molecular exercise physiology available 12 chapter structure around which a complete single-semester course can be built Explains the concepts of exercise physiology at a molecular level in clear, accessible language and relates them to real practical and applied outcomes Covers applications in both sport and health-related physical activity Includes new chapters on the molecular aspects of exercise and cancer, and exercise and metabolic and cardiovascular diseases Every chapter includes useful features such as learning objectives, summaries, structured guides to further reading, review questions, overviews of work by key researchers and box discussions of important contemporary debates

Psychiatry and clinical psychology have long been divided about the roles of nature and nurture in the pathways to psychopathology. Some clinicians offer treatment almost entirely based on neuroscience. Some psychologists offer psychotherapies almost entirely based on the impact of environmental stressors. Paris argues for a balanced middle ground between nature and nurture in human development. This book reviews and integrates research showing that the key to understanding the development of mental disorders lies in interactions between genes and environment. It explores why personality is a key determinant of how people respond to stress, functioning as a kind of psychological immune system. This model represents a shift from overly simple and reductionistic constructs, based primarily on biological risks or on psychosocial risks in development. Instead, it offers a complex and multivariate approach that encourages a broader approach to treatment. This book is essential for all mental health clinicians who are interested in understanding the roles of nature and nurture in the development of psychopathology.

The field of non-viral vector research has rapidly progressed since the publication of the first edition. This new edition is expanded to two separate volumes that contain in-depth discussions of different non-viral approaches, including cationic liposomes and polymers, naked DNA and various physical methods of delivery, as well as a comprehensive coverage of the molecular biological designs of the plasmid DNA for reduced toxicity, prolonged expression and tissue or disease specific genes. New developments such as the toxicity of the non-viral vectors and recent advances in nucleic acid therapeutics are fully covered in these volumes.

Provides the current state of the art of genome editing technologies used in basic and applied research. Bring the latest advances in CRISPR/Cas9 technologies for treating genetic diseases. Provides future prospects and directions for clinical research.

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..

The critically acclaimed laboratory standard for more than forty years, Methods in Enzymology is one of the most highly respected publications in the field of biochemistry. Since 1955, each volume has been eagerly awaited, frequently consulted, and praised by researchers and reviewers alike. Now with more than 300 volumes (all of them still in print), the series contains much material still relevant today--truly an essential publication for researchers in all fields of life sciences.

Dynamic Treatment Regimes: Statistical Methods for Precision Medicine provides a comprehensive introduction to statistical methodology for the evaluation and discovery of dynamic treatment regimes from data. Researchers and graduate students in statistics, data science, and related quantitative disciplines with a background in probability and statistical inference and popular statistical modeling techniques will be prepared for further study of this rapidly evolving field. A dynamic treatment regime is a set of sequential decision rules, each corresponding to a key decision point in a disease or disorder process, where each rule takes as input patient information and returns the treatment option he or she should receive. Thus, a treatment regime formalizes how a clinician synthesizes patient information and selects treatments in practice. Treatment regimes are of obvious relevance to precision medicine, which involves tailoring treatment selection to patient characteristics in an evidence-based way. Of critical importance to precision medicine is estimation of an optimal treatment regime, one that, if used to select treatments for the patient population, would lead to the most beneficial outcome on average. Key methods for estimation of an optimal treatment regime from data are motivated and described in detail. A dedicated companion website presents full accounts of application of the methods using a comprehensive R package developed by the authors. The authors' website www.dtr-book.com includes updates, corrections, new papers, and links to useful websites.

DNA testing and its forensic analysis are recognized as the "gold standard" in forensic identification science methods. However, there is a great need for a hands-on step-by-step guide to teach the forensic DNA community how to interpret DNA mixtures, how to assign a likelihood ratio, and how to use the subsequent likelihood ratio when reporting interpretation conclusions. Forensic DNA Profiling: A Practical Guide to Assigning Likelihood Ratios will provide a roadmap for labs all over the world and the next generation of analysts who need this foundational understanding. The techniques used in forensic DNA analysis are based upon the accepted principles of molecular biology. The interpretation of a good-quality DNA profile generated from a crime scene stain from a single-source donor provides an unambiguous result when using the most modern forensic DNA methods. Unfortunately, many crime scene profiles are not single source. They are described as mixed since they contain DNA from two or more individuals. Interpretation of DNA mixtures represents one of the greatest challenges to the forensic DNA analyst. As such, the book introduces terms used to describe DNA profiles and profile interpretation. Chapters explain DNA extraction methods, the polymerase chain reaction (PCR), capillary electrophoresis (CE), likelihood ratios (LRs) and their interpretation, and population genetic models-including Mendelian inheritance and Hardy-Weinberg equilibrium. It is important that analysts understand how LRs are generated in a probabilistic framework, ideally with an appreciation of both semicontinuous and fully continuous probabilistic approaches. KEY FEATURES: * The first book to focus entirely on DNA mixtures and the complexities involved with interpreting the results * Takes a hands-on approach offering theory with worked examples and exercises to be easily understood and implementable by laboratory personnel * New methods, heretofore unpublished previously, provide a means to innovate deconvoluting a mixed DNA profile, assign an LR, and appropriately report the weight of evidence * Includes a chapter on assigning LRs for close relatives (i.e., "It's not me, it was my brother"), and discusses strategies for the validation of probabilistic genotyping software Forensic DNA Profiling fills the void for labs unfamiliar with LRs, and moving to probabilistic solutions, and for labs already familiar with LRs, but wishing to understand how they are calculated in more detail. The book will be a welcome read for lab professionals and technicians, students, and legal professionals seeking to understand and apply the techniques covered.

Stem cell research has been a problematic endeavour. For the past twenty years it has attracted moral controversies in both the public and the professional sphere. The research involves not only laboratories, clinics and people, but ethics, industries, jurisprudence, and markets. Today it contributes to the development of new therapies and affects increasingly many social arenas. The matrix approach introduced in this book offers a new understanding of this science in its relation to society. The contributions are multidisciplinary and intersectional, illustrating how agency and influence between science and society go both ways. Conceptually, this volume presents a situated and reflexive approach for philosophy and sociology of the life sciences. The practices that are part of stem cell research are dispersed, and the concepts that tie them together are tenuous; there are persistent problems with the validation of findings, and the ontology of the stem cell is elusive. The array of applications shapes a growing bioeconomy that is dependent on patient donations of tissues and embryos, consumers, and industrial support. In this volume it is argued that this research now denotes not a specific field but a flexible web of intersecting practices, discourses, and agencies. To capture significant parts of this complex reality, this book presents recent findings from researchers, who have studied in-depth aspects of this matrix of stem cell research. This volume presents state-of-the-art examinations from senior and junior scholars in disciplines from humanities and laboratory research to various social sciences, highlighting particular normative and epistemological intersections. The book will appeal to scholars as well as wider audiences interested in developments in life science and society interactions. The novel matrix approach and the accessible case studies make this an excellent resource for science and society courses.

Long regarded as biological waste, the placenta is gaining momentum as a viable product for clinical use. Due to their unique properties, placental cells and derivatives show great promise in curing various diseases. Utilizing contributions from world-renowned experts, Placenta: The Tree of Life considers the therapeutic potential of these cells. It examines new stem cell-based strategies and highlights recent studies that advance the range of treatment for a number of illnesses. Emphasizing the potential research and therapeutic use of stem cells, the book discusses the development, structure, and functions of the human placenta. It introduces overall aspects of the immune system, explains some of the immune mechanisms during pregnancy, and shows the role of the placenta in these mechanisms. Current scientific research is presented that focuses on the mechanisms of action underlying the therapeutic benefit of cells isolated from different placental regions. An exhaustive examination, this pivotal work: Considers how perinatal cells may represent an important source for cell therapy approaches in the near future, in both human and veterinary medicine Describes the clinical potential of placenta-derived cells in regenerative medicine-specifically in neurological disorders, metabolic liver diseases, inflammatory diseases, and autoimmune diseases Explains how cells isolated from different placental tissues share basic properties Placenta: The Tree of Life summarizes the advantages of perinatal tissue as a source of cells with therapeutic potential and is designed for use in the study of genetics, stem cell science, placental function, reproductive biology, regenerative medicine, and related fields.

This title includes a number of Open Access chapters. This new volume on gene expression and epigenetics discusses environmental effects related to specific gene expression. The book also shows methods for bioinformatic analysis of the epigenome. The book is broken into two sections: the first looks at eukaryotic DNA methylation and the second addresses how to integrate genomic medicine into clinical practice. The book includes chapters on these topics: * Gene expression in colon cancer tissue * Epigenetics in human acute kidney injury * Embryologically relevant candidate genes in MRKH patients * DNA methylation in common skeletal disorders * Causal relationships in genomics * Predicting severe asthma exacerbations in children * Epigenetic understanding of gene-environment interactions in psychiatric disorders

The book provides scope and knowledge on advanced techniques and its applications into the modern fields of biotechnology-genomics and proteomics. In this book, different genomics and proteomics technologies and principles are examined. The fundamental knowledge presented in this book opens up an entirely new way of approaching DNA chip technology, DNA array assembly, gene expression analysis, assessing changes in genomic DNA, structure-based functional genomics, protein networks, and so on. Topics in the book include: * Different gene products with a similar role in neuronal defense against oxidative * Gene-gene and gene-environment interactions in genetic epidemiology * Elucidation of proto-oncogene c-abl function with the use of mouse models and the disease model of chronic myeloid leukemia * Next-generation sequencing, microbiome evaluation, molecular microbiology, and their impact on human health * Proteomics and prostate cancer * RNA interference therapeutics * Molecular mechanisms of hepatitis C virus entry * Molecular phylogenetics for elucidation of evolutionary processes from biological data * The impact of transgenic crops on soil quality, microbial diversity, and plant-associated communities. * Biotechnological and genomic approaches for abiotic stress tolerance in crop plants The book will be valuable for biotechnology researchers and bioinformatics professionals and students in all fields of biotechnology and will serve to broaden their knowledge about these newer tools, techniques, innovations, and applications.