Clinical Molecular Medicine: Principles and Practice presents the latest scientific advances in molecular and cellular biology, including the development of new and effective drug and biological therapies and diagnostic methods. The book provides medical and biomedical students and researchers with a clear and clinically relevant understanding on the molecular basis of human disease. With an increased focus on new practice concepts, such as stratified, personalized and precision medicine, this book is a valuable and much-needed resource that unites the core principles of molecular biology with the latest and most promising genomic advances.

Genetic Models and Molecular Pathways Underlying Autism Spectrum Disorders, Volume 241 provides the most recent information on the animal model systems that are available to study different forms of autism spectrum disorders. In addition to genetically engineered animals that uniquely model genetic forms of ASD, this volume also provides detailed chapters on a variety of specific topics, including An overview of genetic models of ASDs, Phenotypic modeling of ASD symptoms, Molecular mechanisms of NF1 model of ASD symptoms, Ube3a gene dosage disorders: molecular and circuit mechanisms of ASD, Circuit dysfunctions in ASD models, ERK signaling in genetic models of ASD, and more.

Clinical Ethics at the Crossroads of Genetic and Reproductive Technologies offers thorough discussions on preconception carrier screening, genetic engineering and the use of CRISPR gene editing, mitochondrial gene replacement therapy, sex selection, predictive testing, secondary findings, embryo reduction and the moral status of the embryo, genetic enhancement, and the sharing of genetic data. Chapter contributions from leading bioethicists and clinicians encourage a global, holistic perspective on applied challenges and the moral questions relating the implementation of genetic reproductive technology. The book is an ideal resource for practitioners, regulators, lawmakers, clinical researchers, genetic counselors and graduate and medical students. As the Human Genome Project has triggered a technological revolution that has influenced nearly every field of medicine, including reproductive medicine, obstetrics, gynecology, andrology, prenatal genetic testing, and gene therapy, this book presents a timely resource.

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.

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.

ABC Transporters and Cancer provides invaluable information on the exciting and fast-moving field of cancer research. Here, outstanding and original reviews are presented on a variety of topics. This volume covers ABC transporters and cancer, and is suitable for researchers and students alike.

"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

Primary immunodeficiency diseases, first recognized 60 years ago, are inherited disorders that affect human adaptive and innate immunity. In most cases, affected individuals experience recurrent infections, but they may also suffer from autoimmune diseases and malignancies. This third edition of Primary Immunodeficiency Diseases provides readers with the historic and scientific background, clinical presentations, immunologic characteristics, and the molecular/genetic underpinnings of this rapidly enlarging class of diseases. With up-to-date diagnostic tools and therapeutic options - from prophylactic anti-infective measures to hematopoietic stem cell transplantation and gene therapy - this volume will remain an authoritative resource on this increasingly important area.

The Atlas of X-Linked Intellectual Disability Syndromes is a comprehensive and up-to-date summary of the clinically distinctive disorders caused by genes on the X chromosome. Clinical and laboratory data on 150 syndromes are presented in a concise and consistent manner. Each syndrome is defined and information is provided on somatic features, growth and development, neurological signs, cognitive performance, imaging and other laboratory findings, and when possible, the nature and localization of the responsible gene. Craniofacial and other somatic findings are extensively illustrated. A differential matrix accompanies each syndrome description to assist the reader in identifying other X-linked syndromes with overlapping features. Individual syndrome entries are supplemented with nineteen appendices that identify syndromes with common features and provide the location or mapping limits and function of the responsible genes. The authors have extensive experience in the clinical and laboratory delineation of X-linked intellectual disability. They have described new syndromes, regionally mapped disease loci on the X chromosome, and identified the genes responsible for X-linked syndromes.

Genetics is in all senses a family affair. The diagnosis of a genetic condition affects not only the patient and biological family members who may themselves be at risk, but also "family" more generally as support may be sought from those considered kin and who may or may not be at risk themselves. It is considered best practice in genetic consultations to explore who will be informed within the family when a genetic condition or risk is diagnosed, particularly when the health of other family members is at risk. There is little guidance or consensus on how to achieve the implicit goal of informed family members while respecting patient confidentiality, however. There is a need for practitioners to be aware of the dynamics of family communication and to have guidance about how they may sensitively facilitate communication about genetics within families.
This handbook facilitates the development of clinical practices relating to family communication about genetics. Relevant theories of family communication are summarized and related to a clinical genetics milieu and, from this, frameworks for practitioners are presented. A book of this nature is particularly timely as the completion of the Human Genome Project will result in an unprecedented amount of information about genetic constitution and health risks becoming available to individuals and their families. The presence of a potential genetic condition in a family is not a new phenomenon. However, the growth in testing for genetic conditions, common complex conditions and variants that may influence health as well as drug metabolism means that a greater number of individuals will face decisions about communicating this information to their relatives. Many health professionals in all levels of health care will be confronted with issues of responsibility and practice in family communication about genetic information as they become providers of this testing.

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.

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.

Rapid advances in high-throughput genome sequencing technologies foreshadow a near-future in which millions of individuals will gain affordable access to their complete genome sequence. This promises to offer unprecedented insights into the fundamental biological nature of ourselves and our species: where we came from, how we begin our lives, how we develop and grow, how we interact with our environment, how we get sick, how we get well, and how we age. Personal genomics is an essential component of the inevitable transition towards personalized health and medicine. As the medical establishment begins to explore and evaluate the role of personal genomics in health and medicine, both clinicians and patients alike will gain from becoming well versed in both the power and the pitfalls of personal genomic information. Furthermore, it is likely that all students of the biomedical sciences will soon be required to gain crucial understanding in the emerging field of personal genomics. Exploring Personal Genomics provides a novel, inquiry-based approach to the understanding and interpretation of the practical, medical, physiological, and societal aspects of personal genomic information. The material is presented in two parts: the first provides readers of all backgrounds with a fundamental understanding of the biology of human genomes, information on how to obtain and understand digital representations of personal genomic data, tools and techniques for exploring the personal genomics of ancestry and genealogy, discovery and interpretation of genetic trait associations, and the role of personal genomics in drug response. The second part offers more advanced readers an understanding of the science, tools, and techniques for investigating interactions between a personal genome and the environment, connecting DNA to physiology, and assessing rare variants and structural variation. This book aims to support undergraduate and graduate studies in medicine, genetics, molecular biology, and bioinformatics. Additionally, the design of the content is such that medical practitioners, professionals working in the biomedical sciences or related fields, and motivated lay individuals interested in exploring their personal genetic data should find it relevant and approachable.

The first edition of Human Genome Epidemiology, published in 2004, discussed how the epidemiologic approach provides an important scientific foundation for studying the continuum from gene discovery to the development, applications and evaluation of human genome information in improving health and preventing disease. Since that time, advances in human genomics have continued to occur at a breathtaking pace.
With contributions from leaders in the field from around the world, this new edition is a fully updated look at the ways in which genetic factors in common diseases are studied. Methodologic developments in collection, analysis and synthesis of data, as well as issues surrounding specific applications of human genomic information for medicine and public health are all discussed. In addition, the book focuses on practical applications of human genome variation in clinical practice and disease prevention. Students, clinicians, public health professionals and policy makers will find the book a useful tool for understanding the rapidly evolving methods of the discovery and use of genetic information in medicine and public health in the 21st century.

This fourth edition of Huntington's Disease presents a comprehensive summary of the current knowledge of this disease, including the major scientific and clinical advances that have occurred since publication of the third edition in 2002. Completely updated and expanded, chapters in this volume are organized in five sections: * Clinical aspects of Huntington's disease, including updated chapters on historical perspectives, neurological, neuropsychiatric, and neuropsychological aspects, and new chapters on juvenile Huntington's and the premanifest and early stages * The genetics of Huntington's disease, including new information on its epidemiology discussions of new testing guidelines * Neurobiology, including recent insights into correlations between pathology and symptoms and a new chapter on neuronal circuitry * The molecular biology of Huntington's disease, including new chapters on the normal function of huntingtin, the molecular pathogenesis of Huntington's disease and the peripheral pathology of the disorder, and an extensively updated chapter on its structural biology * An updated description of the comprehensive care for Huntington's disease, featureing a new chapter on preclinical therapeutics and a completely rewritten chapter on the state of the art of experimental therapeutics and clinical trials.

Epigenetics in Organ Specific Disorders, a new volume in the Translational Epigenetics series, provides a foundational overview and nuanced analysis of epigenetic gene regulation distinct to each organ type and organ specific disorders, fully elucidating the epigenetics pathways that promote and regulate disease. After a brief introduction, chapter authors compare epigenetic regulations across normal and disease conditions in different organ tissues, exploring similarities and contrasts. The role of epigenetic mechanisms in stem cells, cell-matrix interactions and cell proliferation, cell migration, cellular apoptosis, necrosis, pyknosis, tumor suppression, and immune responses across different organ types are examined in-depth. Organ specific epigenetic mechanisms and biomarkers of early use in developing drugs, which can selectively target the organ of interest, are also explored to enable new precision therapies.

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..