This volume presents new research on messenger RNA (mRNA), the crucial mediating template between DNA and protein synthesis. In five chapters and several expert commentaries, international scientists examine major proteins involved in this transcription process, e.g., p38, a key proinflammatory-signaling molecule whose activity is being studied in order to develop inhibitors to treat rheumatoid arthritis and other chronic inflammatory diseases. Experimental methods and findings are presented relating to the role of mRNA in other clinical applications and to its basic role in gene expression. Illustrations include mRNA pathways for specific genes, mRNA encoding of proteins, and phylogenetic analysis diagrams. The editor's credentials are not given.

"A good companion for those with a science background interested in learning more about human genetics." —Booklist Thanks to the popularity of personal genetic testing services, it's now easier than ever to get information about our own unique DNA—but who does this information really benefit? And, as genome editing and gene therapy transform the healthcare landscape, what do we gain—and what might we give up in return? Inside each of your cells is the nucleus, a small structure that contains all of the genetic information encoded by the DNA inside, your genome. Not long ago, the first human genome was sequenced at a cost of nearly $3 billion; now, this same test can be done for about $1,000. This new accessibility of genome sequence information creates huge potential for advances in how we understand and treat disease, among other things. It also raises significant concerns regarding ethics and personal privacy. In Mapping Humanity: How Modern Genetics Is Changing Criminal Justice, Personalized Medicine, and Our Identities, cellular biology expert Joshua Z. Rappoport provides a detailed look at how the explosion in genetic information as a result of cutting-edge technologies is changing our lives and our world.  Inside, discover:    • An in-depth look at how your personal genome creates the unique individual that you are     • How doctors are using DNA sequencing to identify the underlying genetic causes of disease    • Why the field of gene therapy offers amazing potential for medical breakthroughs—and why it's taking so long    • The fantastic potential—and troubling concerns—surrounding genome editing    • The real impact—and validity—of popular personal genetic testing products, such as 23andMe    • Details of how molecular biology and DNA are changing the criminal justice system    • Facts you should know about Genetically Modified Organisms (GMOs)  Throughout, in compelling, accessible prose, Rappoport explores the societal, ethical, and economic impacts of this new era. Offering a framework for balancing the potential risks and benefits of genetic information technologies and genetic engineering, Mapping Humanity is an indispensable guide to navigating the possibilities and perils of our gene-centric future.

Collectively, genetic diseases and common diseases with a genetic component pose a significant public health burden. With completion of the human genome sequence, scientists will now focus on understanding the clinical implications of the sequence information. Clinical genetic tests are becoming available at a rapid rate. Testing is regulated by the federal government and tests are beginning to be included in health insurance benefits packages. Issues surrounding genetic testing and non-discrimination addressed in this book include: What is health information and how is it currently used by health insurers and employers?; What is genetic information?; Is genetic information different from other health information?; What are the implications of having genetic information: for the individual undergoing testing? for his/her family? for society?; What evidence exists to suggest that discrimination is a problem?; Will the proposed legislation have been sufficient to protect "genetic information" and "genetic tests" that are of concern?; How does the proposed legislation compare with existing laws and regulations governing discrimination?

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

From the Foreword by Candy Cooley, formerly Genetics Awareness Programme Lead at the NHS National Genetics and Genomics Education Centre: "What a delight it is ... to read a book which takes complex scientific concepts and ensures they are understandable by all." With activities and answers, reflection points and a glossary, this interactive textbook supports the 'Fit for Practice in the Genetics Era' competence framework, offering an introduction to the theory of genetics and then using common genetic conditions/disorders as case studies to help students apply theory to practice and examine the service user experience. Genetics is written by an experienced teacher of health care sciences and is ideal for student nurses who need to demonstrate and apply knowledge of genetics and genomics. It is also suitable for other health care students and for qualified practitioners who would like to refresh their knowledge of the subject. From lecturer reviews: "A well written and nicely laid out genetics text at an appropriate level for adult nursing students." "Fabulous text, student friendly."

Written by the successful author team of Sandy Primrose and Richard Twyman, "Genomics: Applications in Human Biology" is a topical book showing how the new science of genomics is adding impetus to the advances in human health provided by biotechnology.

Aimed at advanced undergraduates, it assumes a basic knowledge of the principles of recombinant DNA technology and will form an excellent basis for further study into human disease, cancer, and new therapies.

Written to provide the necessary overview of the subject, covering technological developments, applications and (where necessary) their ethical implications
Divided into three sections, the first section introduces the role of biotechnology and genomics in medicine and sets out some of the technological advances that have been the basis of recent medical breakthroughs
The second section takes a closer look at how biotechnology and genomics are influencing the prevention and treatment of different categories of disease
Finally the contribution of biotechnology and genomics to the development of different types of therapy is described, including conventional drugs, recombinant proteins and gene/cell therapies
References to appropriate sections in two other popular books, authored by Sandy Primrose and Richard Twyman, are included - Principles of Gene Manipulation and Principles of Gene Analysis and Genomics
Features several categories of boxed text, including history boxes (describing the origins and development of particular technologies or treatments), molecular boxes (featuring the molecular basis of diseases or treatments in more detail) and ethics boxes (which discusses the ethicalimplications of technology development and new therapies)

This title includes proceedings of the International Workshop on Human Gene Transfer held at the Chateau de Montvillargenne, Gouvieux-Chantilly (France), 11 to 13 April 1991.

This book describes the biology, diagnosis, treatment and the latest research on anti-sperm antibody (ASA) and anti-zona pellucida antibody (AZPA) produced in some infertile patients. It summarizes ASA in both men and women, and presents new research to serve as a guideline for medical treatment, which currently varies considerably. It also discusses the recently identified target antigens of these antibodies, and the latest immunocontraceptive development projects. The book features chapters on AZPA explaining the biological structure and function of the zona pellucida, and describing the abnormality and the antibody. It also provides insights into their evolution, presenting the differences in taxonomy, mammalian physiological functions and the morphologically and immunologically unique human zona pellucida. Gamete Immunology is a valuable resource for researchers, and postdocs who are curious about new research on ASA and AZPA. It offers clinicians and embryologists who are interested in gamete immunology diverse perspectives as well as the basis for new ideas to treat the antibodies and develop contraceptive vaccinogens.

Brain tumors comprise about 5-9% of all human neoplasms; and interestingly the central nervous system (CNS) neoplasms are ranked among the most prevalent neoplasms of childhood as well. Besides to the morphologic and histopathologic characteristics, and as each pathologic states first starts with molecular alterations, each tumor may have its own story in the matter of activating tumorigenesis pathways and having specific molecular characteristics. Importantly, the molecular classification of tumors has been highly considered in the past few decades for taking the most appropriate therapeutic approach. On the other hand, the tumors shall have tumor-scape mechanisms preventing the immunologic system to eliminate its invasion. The failure of innate and acquired immune system to defeat tumorigenesis mechanisms would consequently result in tumor development. Interestingly, the neuro-immunologic mechanism plays a role in development of psychiatric manifestations of brain tumors as well. Taking all these to account, the different arms of innate immunity, acquired immunity, and genetics have been approached to defeat development and/or progression of such tumors. Accordingly, the activation immunotherapeutic approaches focus on activating or strengthening the anti-tumor immunologic pathways in order to assist the weakened immune system to defeat the tumor (such as Dendritic cell vaccination, DNA vaccines, peptide vaccines, viral vector-based vaccines, monoclonal antibodies, and CAR T-cell therapy). In addition to immunologic components of brain and spinal cord tumors, numerous genes and genetic pathways have been recognized to take part in tumorigenesis. Taking these non-immune genetic pathways to account, some other therapeutic approaches such as stem cell therapy and gene therapy have been developed in the new era of cancer treatment. Moreover, and besides the biologic and medical aspects of these tumors, different physical/mathematical models have been proposed to either explain or predict tumor behavior. Such models would be advantageous in developing new therapeutic modalities in pre-clinical stages and enter new eras in cancer treatment. The first book of Human Brain and Spinal Cord Tumors, Neuro-immunology and Neuro-genetics, will mainly discuss the neuro-immunology and neurogenetic pathways associated with development of brain and spinal cord tumor. After a short introduction chapter, this book will focus on the role of innate and acquired immunity on development of these tumors and then the immunotherapeutic approaches to defeat these tumorigenesis mechanisms. This book will then focus on genetic aspects of brain and spinal cord tumors and bioinformatics models to describe the behavioral patterns of these tumors, as well as associated therapeutic approaches such as stem cell therapy and gene therapy. This volume of book could be useful for experts in basic sciences, mainly geneticists and immunologists, and also physicians of different specialties, mainly neurosurgeons, neurologists, neuropathologists and neuroradiologists.

How scientific advances in genetic modification will fundamentally change the natural world The process of manipulating the genetic material of one animal to include the DNA of another creates a new transgenic organism. Several animals, notably goats, mice, sheep, and cattle are now genetically modified in this way. In Our Transgenic Future, Lisa Jean Moore wonders what such scientific advances portend. Will the natural world become so modified that it ceases to exist? After turning species into hybrids, can we ever get back to the original, or are they forever lost? Does genetic manipulation make better lives possible, and if so, for whom? Moore centers the story on goats that have been engineered by the US military and civilian scientists using the DNA of spiders. The goat's milk contains a spider-silk protein fiber; it can be spun into ultra-strong fabric that can be used to manufacture lightweight military body armor. Researchers also hope the transgenically produced spider silk will revolutionize medicine with biocompatible medical inserts such as prosthetics and bandages. Based on in-depth research with spiders in Florida and transgenic goats in Utah, Our Transgenic Future focuses on how these spidergoats came into existence, the researchers who maintain them, the funders who have made their lives possible, and how they fit into the larger science of transgenics and synthetics. This book is a fascinating story about the possibilities of science and the likely futures that may come.

Pharmacogenomics: Challenges and Opportunities in Therapeutic Implementation, Second Edition, provides comprehensive coverage of the challenges and opportunities facing the therapeutic implications of pharmacogenomics from academic, regulatory, pharmaceutical, socio-ethical and economic perspectives. While emphasis is on the limitations in moving the science into drug development and direct therapeutic applications, this book also focuses on clinical areas with successful applications and important initiatives that have the ability to further advance the discipline. New chapters cover important topics such as pharmacogenomic data technologies, clinical testing strategies, cost-effectiveness, and pharmacogenomic education and practice guidelines. The importance of ethnicity is also discussed, which highlights phar,acogenomic diversity across Latin American populations. With chapters written by interdisciplinary experts and insights into the future direction of the field, this book is an indispensable resource for academic and industry scientists, graduate students and clinicians engaged in pharmacogenomics research and therapeutic implementation.

For decades, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice. With detailed coverage in contributions from over 250 of the world's most trusted authorities in medical genetics and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for medical students, residents, physicians, and researchers involved in the care of patients with genetic conditions. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly. This volume, Foundations, summarizes basic theories, concepts, research areas, and the history of medical genetics, providing a contextual framework for integrating genetics into medical practice. In this new edition, clinically oriented information is supported by full-color images and expanded sections on the foundations of genetic analytics, next generation sequencing, and therapeutics. With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Seventh Edition bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for the health professionals and researchers.

Oncogenomics: From Basic Research to Precision Medicine offers a thorough survey of precision medicine and its diagnostic and therapeutic applications in oncology. Gathering contributions from leading international researchers in the field, chapters examine recent translational advances in oncogenomic methods and technologies, detailing novel molecular classifications of tumors as well as diagnostic and prognostic biomarkers for various types of cancers including pancreatic, gastrointestinal, breast, hematological, lung, osteotropic, genitourinary, and skin cancers. This book provides a foundation for clinical oncologists, human geneticists, and physicians to develop new targeted cancer treatments and incorporate genomic medicine into clinical practice, with particular attention paid to noninvasive diagnostic techniques such as the liquid biopsy and molecular characterization of solid malignancies.

This informative book discusses the latest research on the risk factors and therapeutics in dementia. WHO calls dementia a public health priority. Dementia manifests as a group of symptoms associated with decline in memory or other thinking skills and is severe enough to reduce a person's ability to perform everyday activities. It occurs frequently among elderly people, but it is not necessarily part of the normal aging process. The book has been divided into two broad sections. The first section reviews the risk factors involved in developing dementia, including various medical conditions, lifestyle choices, as well as genetics. The latter section describes various therapeutic interventions in dementia. Although there is no known cure for dementia, this book underlines the current treatment strategies that could momentarily reduce the symptoms and improve the quality of life of the patients. This book highlights the global effort to find better ways to halt the progression of dementia and develop novel therapeutic strategies. The book would be an interesting read for advanced graduate students and researchers working in the field of neuroscience, genetics, and medicine. It will generate good interest to neurologists, psychiatrists, geriatricians, cardiologists, internal medicine practitioners, epidemiologist, and public health workers.

Get a quick, expert overview of the many key facets of pediatric cancer genetics with this concise, practical resource by Drs. Nathaniel H. Robin and Dr. Nathaniel H. Robin and Meagan Farmer, MS, CGC, MBA. Ideal for pediatric oncologists and all providers who care for children with cancer, this easy-to-read reference addresses the remarkable potential of genetic testing as well as the complexities of choosing the correct test, understanding the results, and counseling the family. Features a wealth of information on pediatric cancer genetics, including the epidemiology and biology of cancer and the genetic evaluation process and role of genetic counsellors Highlights examples of syndromes that present in childhood and increase susceptibility to cancer Discusses the genetic evaluation process in context of the multidisciplinary care of children with cancer Considers the ethical and legal issues of genetic testing in children and provides illustrative case examples Consolidates today's available information and guidance in this timely area into one convenient resource Features a wealth of information on pediatric cancer genetics, including the epidemiology and biology of cancer and the genetic evaluation process and role of genetic counselors. Highlights examples of syndromes that present in childhood and increase susceptibility to cancer. Discusses the genetic evaluation process in context of the multidisciplinary care of children with cancer. Considers the ethical and legal issues of genetic testing in children and provides illustrative case examples. Consolidates today's available information and guidance in this timely area into one convenient resource.

Recent advances in genomic and omics analysis have triggered a revolution affecting nearly every field of medicine, including reproductive medicine, obstetrics, gynecology, andrology, and infertility treatment. Reproductomics: The -Omics Revolution and Its Impact on Human Reproductive Medicine demonstrates how various omics technologies are already aiding fertility specialists and clinicians in characterizing patients, counseling couples towards pregnancy success, informing embryo selection, and supporting many other positive outcomes. A diverse range of chapters from international experts examine the complex relationship between genomics, transcriptomics, proteomics, and metabolomics and their role in human reproduction, identifying molecular factors of clinical significance. With this book Editors Jaime Gosalvez and Jose A. Horcajadas have provided researchers and clinicians with a strong foundation for a new era of personalized reproductive medicine.

This issue of Rheumatic Disease Clinics focuses on Genetics. Article topics cover: Genetic Influences on Susceptibility and Severity of Rheumatoid Arthritis; HLA-disease associations in rheumatoid arthritis; Autoinflammatory Syndromes as a Model of Monogenic Diseases; Genomic Influences on Hyperuricaemia and Gout; Genetics of Systemic Lupus Erythematosus; Genetics of Ankylosing Spondylitis;Genetics of Scleroderma; Genetics of Osteoarthritis; Genetics of Juvenile Inflammatory Arthritis; Genetic Influences on Treatment Response in Rheumatic Diseases; Integrative approaches/computational biology; Future directions of genetic research in rheumatic diseases; and Population genetics and natural selection in rheumatic disease.

This issue of Endocrinology and Metabolism Clinics, guest edited by Dr. Constantine A. Stratakis, is devoted to Genetics in Endocrine Disorders. Articles in this issue include: Genetics of Short Stature; Genetics of Diabetes Insipidus; Pituitary Hypoplasia; Pituitary Tumor Genetics and Associated Syndromes; Defects of Thyroid Hormone Synthesis; Molecular Genetics of Thyroid Cancer; Genetics of Hyperparathyroidism Including Parathyroid Cancer; Genetics of Adrenocortical Development and Tumors; Genetics of Congenital Adrenal Hyperplasia; Genetics of Pheochromocytomas and Related Conditions; Genetics of Multiple Endocrine Neoplasia Type 1 and Type 2 Syndromes; Genetics of Hypogonadotrophic Hypogonadism and Kallman Syndrome; Disorders of Sex Development; Genetics of Lipodystrophy; and PTEN-Spectrum Disorders.

Brugada Phenocopy: The Art of Recognizing the Brugada ECG Pattern details all aspects associated with alternative diagnosis to Brugada Syndrome (BrS). Coverage includes how to identify the proper ECG pattern, what to do to investigate for BrP, and how to avoid misinterpretations and the use of unnecessary and expensive treatments. Chapters are written by experienced professionals, many of whom are colleagues that initially described this condition. This easy to use volume is a must have reference for researchers of cardiology, cardiologists, electrocardiologists, internists, emergency care doctors and students, residents and fellows.

This issue of Physical Medicine and Rehabilitation Clinics of North America will cover regenerative medicine. Rapid advances in stem cell science are opening new avenues for drug discovery and may lead to new uses of stem cells for other musculoskeletal disorders. Artcles to be included are: Evidence-Based Regenerative Prolotherapy and Perineural Injection Approaches; Platelet Rich Plasma; Autologous Conditioned Serum; Stem Cell Considerations for the Clinician; Adipose Derived Stromal Vascular Faction and Stem Cell Use, as well as many others.

Metagenomics: Perspectives, Methods, and Applications provides thorough coverage of the growing field of metagenomics. A diverse range of chapters from international experts offer an introduction to the field and examine methods for metagenomic analysis of microbiota, metagenomic computational tools, and recent metagenomic studies in various environments. The emphasis on application makes this text particularly useful for applied researchers, practitioners, clinicians and students seeking to employ metagenomic approaches to advance knowledge in the biomedical and life sciences. Case-study based application chapters examine topics ranging from viral metagenome profiling, metagenomics in oral disease and health, metagenomic insights into the human gut microbiome and metabolic syndromes, and more. Additionally, perspectives on future potential at the end of each chapter provoke new thought and motivations for continued study in this exciting and fruitful research area.

Neurogenetics, Part II, Volume 148, the latest release in the Handbook of Clinical Neurology, provides the latest information on the genetic methodologies that are having a significant impact on the study of neurological and psychiatric disorders. Using genetic science, researchers have identified over 200 genes that cause or contribute to neurological disorders. Still an evolving field of study, defining the relationship between genes and neurological and psychiatric disorders is expected to dramatically grow in scope. Part II builds on the foundation of Part I, expanding the coverage to dementias, paroxysmal disorders, neuromuscular disorders, white matter and demyelination diseases, cerebrovascular diseases, adult psychiatric disorders and cancer and phacomatoses.