Albinism in Africa: Historical, Geographic, Medical, Genetic, and Psychosocial Aspects provides the first in-depth reference for understanding and treating patients of human albinism in Africa. Leading international contributors examine the historical, geographic, psychosocial, genetic and molecular considerations of importance in effectively and sensitively managing this genetic disorder. Foundational chapters covering the historical and psychosocial aspects of albinism are supplemented by discussions of the pathobiology of the disease, as well as a thorough analysis of the genetics of skin pigmentation, eye pigmentation, hair pigmentation, and incidents of skin cancer involved in the manifestations of this disorder. New prenatal diagnostics and genetic testing methods, genetic risk assessment for individuals, families, and communities, and novel genetic markers that may be used for developing new therapeutics for treating albinism are also discussed in detail. The book provides care management approaches that may be applied to instances of albinism in other regions, along with guiding principles for treating rare genetic disorders and stigmatized patient populations across the globe.

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.

Epigenetics of Aging and Longevity provides an in-depth analysis of the epigenetic nature of aging and the role of epigenetic factors in mediating the link between early-life experiences and life-course health and aging. Chapters from leading international contributors explore the effect of adverse conditions in early-life that may result in disrupted epigenetic pathways, as well as the potential to correct these disrupted pathways via targeted therapeutic interventions. Intergenerational epigenetic inheritance, epigenetic drug discovery, and the role of epigenetic mechanisms in regulating specific age-associated illnesses-including cancer and cardiovascular, metabolic, and neurodegenerative diseases-are explored in detail. This book will help researchers in genomic medicine, epigenetics, and biogerontology better understand the epigenetic determinants of aging and longevity, and ultimately aid in developing therapeutics to extend the human life-span and treat age-related disease.

Epigenetic Mechanisms in Cancer provides a comprehensive analysis of epigenetic signatures that govern disease development, progression and metastasis. Epigenetic signatures dictating tumor etiologies present an opportunity for biomarker identification which has broad potential for improving diagnosis, prognosis, prediction, and risk assessment. This volumes offers a unique evaluation of signature differences in childhood, sex-specific and race-specific cancers, and in doing so broadly illuminates the scope of epigenetic biomarkers in clinical environments. Chapters detail the major epigenetic process in humans consisting of DNA methylation, histone modifications and microRNAs (miRNAs) involved in the initiation, progression and metastasis of tumors. Also delineated are recent technologies such as next generation sequencing that are used to identify epigenetic profiles (primarily methylation analysis) in samples (normal, benign and cancerous) and which are highly important to the analysis of epigenetic outcomes.

Statistical Methods for Survival Trial Design: With Applications to Cancer Clinical Trials Using R provides a thorough presentation of the principles of designing and monitoring cancer clinical trials in which time-to-event is the primary endpoint. Traditional cancer trial designs with time-to-event endpoints are often limited to the exponential model or proportional hazards model. In practice, however, those model assumptions may not be satisfied for long-term survival trials. This book is the first to cover comprehensively the many newly developed methodologies for survival trial design, including trial design under the Weibull survival models; extensions of the sample size calculations under the proportional hazard models; and trial design under mixture cure models, complex survival models, Cox regression models, and competing-risk models. A general sequential procedure based on the sequential conditional probability ratio test is also implemented for survival trial monitoring. All methodologies are presented with sufficient detail for interested researchers or graduate students.

This detailed volume explores the methods used for most of the recent approaches to suicide gene therapy of cancer, which exploits promoters that are specific to cancer cells, thereby ensuring (or greatly increasing the likelihood) that the therapeutic gene is expressed only in cancer cells. The book also contains chapters describing methods to improve the safety of cell therapy and techniques utilizing bone marrow mesenchymal cells. 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, Suicide Gene Therapy: Methods and Protocols serves as an ideal guide for researchers expanding upon our knowledge and application of this vital form of cancer therapy.

Endocrine Biomarkers: Clinical Aspects and Laboratory Determination covers all the pre-analytical variables that can affect test results, both in the clinic and laboratory. Biomarkers of endocrine and bone diseases are discussed from both clinical and laboratory perspectives, and the authors elaborate on the teamwork-based app+roach between the clinician and the laboratory professional in the diagnosis and management of endocrine and bone disorders. Discussions include test utilization, laboratory measurement methods, harmonization and standardization, interpretation of results, and reference intervals. Each chapter ends with a discussion of one or two relevant cases with shared opinions from both a clinician and a clinical chemist. Each chapter also includes a summary box outlining key points and common pitfalls in the use of specific disease biomarkers and tests.

miRNA and Cancer, Volume 135, the latest volume in the Advances in Cancer Research series, provides invaluable information on the exciting and fast-moving field of cancer research. This volume presents original reviews on research bridging oncology and gene expression, and includes specific chapters on Non-coding RNAs as Biomarkers of Cancer, The Enigma of microRNA Regulation in Cancer, Animal Models to Study microRNA functions, Non-coding RNAs and Cancer, microRNAs in Cancer Susceptibility, ts-RNAs versus microRNAs, microRNAs and AML, and microRNAs and Epigenetics.

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.

Genomic and Precision Medicine: Cardiovascular Disease, Third Edition, focuses on the applications of genome discovery on the broad spectrum of cardiovascular disorders. Each chapter is organized for the application of genomics and personalized medicine tools and technologies to a) Risk Assessment and Susceptibility, b) Diagnosis and Prognosis, c) Pharmacogenomics and Precision Therapeutics, and d) Emerging and Future Opportunities in the field.

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.

Genetics of Bone Biology and Skeletal Disease, Second Edition, is aimed at students of bone biology and genetics and includes general introductory chapters on bone biology and genetics. More specific disease orientated chapters comprehensively summarize the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder. The book is organized into five sections that each emphasize a particular theme, general background to bone biology, general background to genetics and epigenetics, disorders of bone and joint, parathyroid and related disorders, and vitamin D and renal disorders. The first section is specifically devoted to providing an overview of bone biology and structure, joint and cartilage biology, principles of endocrine regulation of bone, and the role of neuronal regulation and energy homeostasis. The second section reviews the principles and progress of medical genetics and epigenetics related to bone disease, including genome-wide association studies (GWAS), genomic profiling, copy number variation, prospects of gene therapy, pharmacogenomics, genetic testing and counseling, as well as the generation and utilizing of mouse models. The third section details advances in the genetics and molecular biology of bone and joint diseases, both monogenic and polygenic, as well as skeletal dysplasias, and rarer bone disorders. The fourth section highlights the central role of the parathyroids in calcium and skeletal homeostasis by reviewing the molecular genetics of: hyperparathyroidism, hypoparathyrodism, endocrine neoplasias, and disorders of the PTH and calcium-sensing receptors. The fifth section details molecular and cellular advances across associated renal disorders such as vitamin D and rickets.

Advances in genetics and related biotechnologies are having a profound effect on sport, raising important ethical questions about the limits and possibilities of the human body. Drawing on real case studies and grounded in rigorous scientific evidence, this book offers an ethical critique of current practices and explores the intersection of genetics, ethics and sport. Written by two of the world's leading authorities on the ethics of biotechnology in sport, the book addresses the philosophical implications of the latest scientific developments and technological data. Distinguishing fact from popular myth and science fiction, it covers key topics such as the genetic basis of sport performance and the role of genetic testing in talent identification and development. Its ten chapters discuss current debates surrounding issues such as the shifting relationship between genetics, sports medicine and sports science, gene enhancement, gene transfer technology, doping and disability sport. The first book to be published on this important subject in more than a decade, this is fascinating reading for anyone with an interest in the ethics of sport, bioethics or sport performance.

In recent years, the development of new technologies capable of monitoring genome function has resulted in fewer hopeful estimates and increasingly solid depictions of genome output from individual samples. Genomics in Endocrinology focuses on exciting new advances in endocrinology resulting from DNA microarray studies and includes a comprehensive introduction to the use of DNA microarrays in endocrinology. The volume provides the basis for further understanding of the usefulness of microarray analyses in endocrinology research. Topics discussed are the methodology of DNA microarrays and general methods for the analysis of microarray data, as well as studies of a wide variety of normal and abnormal endocrine cells.

In the introductory chapter, the volumea (TM)s editors describe several issues in hypothesis formulation, experimental design, data analysis, and follow-up studies that may corroborate, validate, and extend hypotheses gained through microarray analyses. The contributed chapters span a variety of applications that we have divided into the areas of (1) genomic insights into molecular mechanisms responsible for hormone action, (2) genomic characterizations of endocrine producing tissues, and (3) genomic manifestations of diseases of hormonal systems.

A volume on the cutting-edge of technology, Genomics in Endocrinology will provide researchers with an authoritative volume on the most recent advances in monitoring genome function.

Central to the synthesis of proteins, the performance of catalysis, and many other physiological processes, the aberrant expression of which can be linked to human diseases including cancers, RNA has proven to be key target for therapeutics as well as a tool for therapy. In RNA Therapeutics: Function, Design, and Delivery, expert contributors from a broad spectrum of scientific backgrounds highlight the roles that messenger RNAs and small RNAs can play in biology and medicine. While covering the five major RNA-based drugs, namely the use of ribozymes to cleave and/or correct mRNA transcript, the use of siRNA for targeted silencing of gene transcripts, the use of aptamers, like short RNA molecules, for neutralizing the protein functions, the use mRNA-transfected DCs to activate immune system against tumor cells, as well as the use of RNA to reprogram T and/or DC cell function, this extensive volume brings together the fields of coding (mRNA) and non-coding RNA such as ribozymes, RNAse P, siRNAs, and miRNAs into one convenient source. Written in the highly successful Methods in Molecular Biology (TM) series format, the cutting-edge protocol chapters contain introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and practical tips on troubleshooting and avoiding known pitfalls. Also, the book contains several excellent reviews for teaching purposes. Authoritative and comprehensive, RNA Therapeutics: Function, Design, and Delivery provides key models and tools which will assist researchers in increasing our understanding of RNA functions, modifications, and their involvement in diseases in order to lead to the design of vital new RNA-based therapeutics.

Profound mortality rates, due to cardiovascular disease, are a worldwide problem. Cardiovascular disease results from complications of a silent and chronic arterial disease: atherosclerosis. The challenge for the practitioner is adapting diagnostic and therapeutic responses to prevent this common and complex disease. Dyslipidemia, are disorders of the metabolism of soluble transporters of lipids in extracellular spaces of the human body (including blood), called lipoproteins. They are major cardiovascular risk factors, causally related with atherosclerosis and are themselves multifactorial diseases, resulting from interactions between genetic and environmental factors. The study of genetic factors has recently taken a new path with the study of DNA as an experimental object. More than fifty genes of lipoprotein metabolism have been identified in both their physiological actions and their contribution to the pathogenesis of human dyslipidemia. The diversity of observations has refined our current knowledge of the control of lipid metabolism and energy homeostasis in living organisms beyond the limits of the cardiovascular system (e.g., brain, immune system, and development). These studies have given way to a shake-up of former phenotypic classifications, distinguishing new entities, defining targeted therapeutic strategies, providing a basis for different patterns of disease distribution in human populations.

This book presents clinical and research aspects of medicine and social dimensions of healthcare. It is designed for an audience with interest in health and societal factors. It is in part autobiographical, based on different phases of the author's life in medicine over 50 years, who revisited cases and problems encountered as she worked in different countries, including South Africa, Scotland, England and North America. Essays encompass aspects of clinical medicine and aspects of research, particularly in Genetics and Genomic Medicine. New information on the topic or disorder and current opinions and approaches to finding solutions are reviewed.

Delivers complex information in an easy-to-read, step-by-step format. The genomic era encompasses the entire spectrum of DNA - all of the genes, and the interaction and inter-relationship of genes (genome) to the environment. Rapidly changing research has led to numerous advances in genetic testing, diagnosis, and treatments, and it is essential that APRNs be able to integrate genetic risk assessment into clinical care. This quick reference delivers complex information in an easy-to-read, step-by-step format with bitesize info boxes and bulleted information to provide the tools necessary to understand genetics/genomics and identify ""red flags"" that can appear in patient assessments. In an age of personalized and precision medicine, genetic risk assessment has never been more important. Genetics and Genomics in Nursing begins with an overview of genetics and the science behind inheritance. Chapters then break down the processes that make up risk assessment, and walk the reader through data collection and review, identification and calculation of risk, and patient communication. Finally, the last section of this text discusses special populations and key facts nurses need to know about their risk assessment. Key Features: Provides a clear introduction to a complex topic Describes important elements of the genomic risk assessment process for use in clinical settings when evaluating patients Illustrates how to develop a three-generation pedigree Applies commonly-used standardized pedigree symbols and familial patterns to aid in risk interpretation Discusses the challenges and limitations of pedigree interpretation Explains common concepts and includes helpful genomic resources Incorporates genomic risk assessment into patient evaluation

This book gives an overview of the potential and the practical details that need to be resolved in order to make human germline engineering possible. It presents the ethical and social concerns, and implications of our fast-approaching capability to alter our own germline and take an active role in the future evolution of our own species. It provides explanations of how we have arrived at the capability to clone higher animals, and discusses the implications for human therapies and for our own future when these techniques are applied to the human germline.

Aging of somatic stem cells reduces cell function and results in dysfunctional organs and tissues, making it an underlying cause of diseases associated with aging. It might even be the primary cause for age-associated attrition of tissue function in organs that heavily rely on stem cells for maintaining homeostasis, like the skin, blood and intestines. Understanding the molecular and cellular mechanisms involved is critical for developing approaches to attenuate stem cell aging and could pave the way for improved quality of life among the elderly. Written by highly prominent experts in the field, this book presents the current state of knowledge on these mechanisms. It offers insights into stem cell function, explains in detail the mechanisms of stem cell aging in model organisms as well as mammalian systems and describes related diseases and approaches to attenuating stem cell aging or achieving rejuvenation. The book is intended for all scientists and clinicians working with stem cells, aging mechanisms or age-related diseases.

The adipokines (also called adipocytokines), are a group of peptides secreted by adipose tissue. They have diverse roles, from the cell to the whole body. The book is designed for health scientists, doctors, physiologists, immunologists, biochemists, college and university teachers and lecturers, undergraduates and graduates. The chapters are written either by experts or specialists in their field.

Development of cancer, a dreadful disease of mankind, is a multi-stage process involving numerous molecular alterations at both genomic and proteomic levels. Immense research for the past several decades in the field of cancer identified many such mutations and their role in carcinogenesis. Concept of 'fusion genes' seeded way back in 20th century has now grown into a new field of cancer research. However, there is a lack of knowledge among scientists about these fusion genes and their importance in cancer, which can be mainly attributed to unavailability of a comprehensive book on this topic. Therefore, this book is first of its kind and aims at giving a detailed idea on the formation of gene fusions and their importance in the development and progression of cancer; techniques to identify novel gene fusions; and therapeutics available to target various fusion proteins and their impact in cancer therapy by compiling the information from the literature available till date.

Much research has focused on the basic cellular and molecular biological aspects of stem cells. Much of this research has been fueled by their potential for use in regenerative medicine applications, which has in turn spurred growing numbers of translational and clinical studies. However, more work is needed if the potential is to be realized for improvement of the lives and well-being of patients with numerous diseases and conditions. This book series 'Cell Biology and Translational Medicine (CBTMED)' as part of SpringerNature's longstanding and very successful Advances in Experimental Medicine and Biology book series, has the goal to accelerate advances by timely information exchange. Emerging areas of regenerative medicine and translational aspects of stem cells are covered in each volume. Outstanding researchers are recruited to highlight developments and remaining challenges in both the basic research and clinical arenas. This current book is the ninth volume of a continuing series.