To understand the ethical issues raised by genetic counselling, it is necessary for the practitioner, the detached observer and the student to be aware of different perspectives. This work includes contributions from health professionals engaged in genetic counselling, and also from observers and critics of genetic counselling who have backgrounds in law, philosophy, biology, social science, and in advocacy on behalf of those with mental handicap. This diversity is designed to assist health professionals in examining their activities with a fresh eye; it may also help the observer-critic to understand the ethical problems that arise in genetic counselling practice. It is natural for health professionals to focus their concern on the immediate questions raised by individual clients, and for detached observers to consider the broader social implications of the subject.

To understand the ethical issues raised by genetic counselling, it is necessary for the practitioner, the detached observer and the student to be aware of different perspectives. This work includes contributions from health professionals engaged in genetic counselling, and also from observers and critics of genetic counselling who have backgrounds in law, philosophy, biology, social science, and in advocacy on behalf of those with mental handicap. This diversity is designed to assist health professionals in examining their activities with a fresh eye; it may also help the observer-critic to understand the ethical problems that arise in genetic counselling practice. It is natural for health professionals to focus their concern on the immediate questions raised by individual clients, and for detached observers to consider the broader social implications of the subject.

This volume provides a comprehensive review of established and novel biomarkers across the continuum of breast cancer. The volume covers topics related to breast cancer risk and prevention, prediction of response to today's standard therapies, and markers capable of influencing treatment decisions in the near future. Chapter authors combine their wide-ranging expertise to review the current status of the biomarker and to offer their individual perspectives on how biomarkers may be used in future treatments and research. Breast cancer continues to be the most common malignancy diagnosed in women in the Western world. While there are multiple treatment approaches for breast cancer, today more than ever we recognize that each tumor is unique. The challenge ahead is to consider how to best use validated and novel biomarkers to select the most appropriate treatment(s) for individual patients.

This book focuses on histone mutations, especially those mutations closely related to cancer. Genetic mutations and epigenetic alterations contribute to the development of a variety of cancers: recent genetic studies have identified e.g. H3K27M and H3G34R/V mutation in over 75% of DIPG cases, H3.3K36M mutation in more than 90% of chondroblastoma cases, and H3G34W/L mutation in over 90% of giant cell tumors of bone. Given the high incidence and tumorigenesis effects of histone H3 mutations, they are also referred to as oncohistones. This book highlights the advances made in the area over the past 10 years, and offers a state-of-the-art summary of epigenetic alternation, gene expression, protein structure, drug discovery, immunotherapy, and mouse modeling of histone H3 mutations in various tumors. Chiefly intended to provide researchers and graduate students with an overall picture of these mutations, it will also be of interest to researchers in basic oncology, clinical oncology, and epigenetics, as well as academics and clinical oncology practitioners.

This collection of essays, with an extended commentary by the editor, is concerned with developments in reproductive technology and the possibilities of genetic engineering. The volume provides a forum for debate between science and society. Leading scientists in the field explain the nature and goals of "test tube" reproduction and genetic engineering, and their eugenic implications. Other papers draw out the legal and ethical problems raised by these developments. The ethical dilemmas are discussed both from the point of view of secular moral philosophy and from a theological perspective. The extended commentary attempts to place these questions in the context of a social ethic, rather than an individualist one, in contrast to the approach adopted by the Warnock Report.

Non-coding, inhibitory microRNAs have emerged as important modulators of cellular gene expression, through a process called RNA interference (RNAi). To date, hundreds of conserved and species-specific microRNAs have been identified in organisms ranging from single-celled algae to humans. Many of these tiny RNAs are now known to play fundamental roles in developmental biology and disease pathogenesis. In addition, RNAi has emerged as a technology useful for manipulating gene expression. In "RNA Interference Techniques," expert researchers present detailed methods for designing and delivering artificial inhibitory RNAs to neural tissue and for detecting or cloning endogenous microRNAs, all in order to aid investigators' attempts to ask basic biological questions or develop therapeutics for dominant neurogenetic disorders, cancer, or viral infection. As a volume in the successful "Neuromethods" series, the chapters provide authoritative accounts of the most commonly used approaches in the field today.

Cutting-edge and concise, "RNA Interference Techniques" promises to support the vital research in the field of RNAi and miRNAs, ever-continuing to grow rapidly and gain increasing importance in basic and translational biology.

Originally published in 1976, this volume reports research that will help us to understand the causes of psychogenic diseases. It deals both experimentally and theoretically with the question of symptom specificity in psychosomatic research - why some individuals respond to psychological stress with gastric disorders, others with sexual impotence, and still others with high blood pressure. As the author notes in summarizing his conclusions, "The repeated pairing of activation of a given organic system with intense nervous stress directs the pathological influence of the stressor primarily upon the system activated; subsequently the natural stimuli which would ordinarily activate the system in a normal manner sustain the pathological stressor's effect as a conditioned stimulus for the stressor effect." The translation of this work from the original Russian brings to the attention of Western investigators new and useful models of stress-induced disorders, and sheds new light on the pervasive problem of psychosomatic disease.

This book provides a comprehensive overview of the genetic basis underlying endocrine diseases. It covers both the molecular and clinical consequences of these genetic defects, as well as the relevance for clinical care, highlighting issues of genetic counseling. Several endocrine diseases have a genetic background, and contemporary research in the field plays a crucial role in the clinical care of endocrine diseases. In recent years, there have been major developments in our understanding of the genetic basis of endocrine diseases. Several novel genes and mutations predisposing individuals to monogenic endocrine diseases have been discovered, and with the advent of next generation sequencing, a huge amount of new data has become available. Further, novel molecular mechanisms, such as genomic imprinting, have been implicated in the pathogenesis of endocrine diseases. A better understanding of the genetic background of these diseases is relevant not only from the research perspective, but also in terms of clinical care. As such, this book is an essential read for both researchers and clinicians working in the field.

This book demonstrates that a pandemic of coronary heart disease occurred in North America, western and northern Europe, and Australia and New Zealand from the 1930s to about 2000. At its peak it caused more deaths than any other disease. The book examines and compares trends in coronary heart disease mortality rates for individual countries. The most detailed analyses are for the United States, where mortality rates are examined for race, sex, and age groups and for geographic regions. Popular explanations for the rise and fall of coronary heart disease mortality rates are examined.

This book explains current strategies for mapping genomes of higher organisms and explores applications of gene mapping to agriculturally important species of plants and animals. It also explores the experimental techniques used for genetic and physical mapping of genes.

This second edition explores techniques involving pseudogenic DNA, RNA, and proteins. Chapters describe how to identify pseudogenes and how to study the functions and alterations of pseudogenic RNA and proteins, both in vitro, and in vivo. Written in the highly successful Methods in Molecular Biology series format, methodological 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 while avoiding known pitfalls. Authoritative and cutting-edge, Pseudogenes: Functions and Protocols, Second Edition aims to be a practical guide to researches, useful to help further their study in this field.

Sickle cell and thalassaemia are among the world's most common genetic conditions. They are especially common in Africa, Brazil, the Caribbean, the Middle East and Asia. They affect all ethnic groups but they particularly impact on minority ethnic groups in North America, Europe and Australasia. Much research has focused on clinical, laboratory and genetic studies of these conditions. Through a wide-ranging selection of readings based on social scientific research into sickle cell and thalassaemia, this book seeks to redress this imbalance. This is important as, through an examination of the different social, economic and cultural contexts of the lives of people living with sickle cell or thalassaemia, the contributors demonstrate that people are more than the sum of their genes and that their life experiences are rarely derived solely from the clinical severity of their condition but depend on the social context of their lives. Genetics and Global Public Health presents a new concluding chapter which highlights the critical nature of social science research for sickle cell and thalassaemia communities, providing key insights into the social contexts of human behaviour and analysing how societal arrangements could change to assist people living with either condition. It will be of great interest to postgraduate and research students as well as professionals working in the field of public health. This book was originally published as a special issue of the journal Ethnicity and Health.

The thymus is an evolutionarily ancient primary lymphoid organ common to all vertebrates in which T cell development takes place. Failing thymus function is associated with immunodeficiency and/or autoimmunity. In this volume, leading experts provide a comprehensive overview of recent advances in thymopoiesis research. The chapters cover the development of the thymic epithelial microenvironment, address the formation of a diverse and self-tolerant repertoire of T cell receptors as the basis for cellular immunity, discuss the mechanisms by which progenitor cells colonize the thymus and detail the molecular basis for T lineage decisions. The reviews illustrate the important role of the multifaceted process of thymopoiesis for adaptive immunity.

Personalized Medicine: Promises and Pitfalls broadly explores the tailoring of medical treatment to a patient's characteristics, needs, and preferences during all stages of care, including prevention, diagnosis, treatment, and follow-up. The book's goal is to explain the science behind personalized medicine, what impact it may have on specific diseases, and some of the repercussions of a personalized medical approach on our medical institutions. Novel personalized therapeutic treatments and their scientific basis are discussed by covering topics as diverse as genomics, proteomics, epigenetics, integrative medicine, stem cells, and the factors that influence personal health. A personalized medical system also requires patient involvement in developing a healthy lifestyle, and so this book touches on topics such as the individual's family history, present and past lifestyle, nutrition, exercise levels, and stress factors. By explaining these broad topics in personalized medicine and the science behind them, we discover how personalized medicine can have a positive impact on an individual's health.

"Molecular Beacons" explains working principle of molecular beacons, discusses their design, synthesis, purification and characterization, explores their thermodynamic and kinetic properties, and more importantly, reviews their in vivo and in vitro applications with the emphasis on the design and modification of molecular beacons for in vivo mRNA imaging applications.

This book is designed to bring together in a single resource an organized and comprehensive view of molecular beacons and will be a valuable resource for academic, clinical and industrial scientists and graduate students who may consider exploring molecular beacons in their research or practice.

Chaoyong James Yang is the Lu Jiaxi Professor of Chemistry at Xiamen University, China.

Weihong Tan is a Distinguished Professor of Chemistry and Biomedical Engineering at Hunan University, China and also a University of Florida Distinguished Professor and V. T. and Louis Jackson Professor of Chemistry at the University of Florida, USA.

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The existence of genes for RNA molecules not coding for proteins (ncRNAs) has been recognized since the 1950's, but until recently, aside from the critically important ribosomal and transfer RNA genes, most focus has been on protein coding genes. However, a long series of striking discoveries, from RNA's ability to carry out catalytic function, to discovery of riboswitches, microRNAs and other ribo-regulators performing critical tasks in essentially all living organisms, has created a burgeoning interest in this primordial component of the biosphere. However, the structural characteristics and evolutionary constraints on RNA molecules are very different from those of proteins, necessitating development of a completely new suite of informatic tools to address these challenges. In RNA Sequence, Structure, Function: Computational and Bioinformatic Methods, expert researchers in the field describe a substantial and relevant fraction of these methodologies from both practical and computational/algorithmic perspectives. Focusing on both of these directions addresses both the biologist interested in knowing more about RNA bioinformatics as well as the bioinformaticist interested in more detailed aspects of the algorithms. Written in the highly successful Methods in Molecular Biology series format, the chapters include the kind of detailed description and implementation advice that is crucial for getting optimal results. Thorough and intuitive, RNA Sequence, Structure, Function: Computational and Bioinformatic Methods aids scientists in continuing to study key methods and principles of RNA bioinformatics.

The postgenomic era presents a multitude of challenges for scientists in all areas of science. The information overload from new discoveries in genomics and proteomics highlight how little we really know about the functioning of a cell. The advent of Next-Generation Sequencing technologies promises to make our genetic blueprint available to the common man. The availability of the plethora of biological information has lead to the devel- ment of new areas of science and the coining of new "omics" terms including transcr- tomics, methylomics, toxicogenomics, pharmacogenomics, metabolomics, lipidomics, and so on. Remarkable research is being conducted to understand the various aspects of human health and how processes like histone modifcations, promoter usage, alternative splicing, posttranscriptional, and posttranslational modifcations contribute to disease. The advent of systems biology has unifed chemists and biochemists alike in the struggle to eradicate or treat human disease. Microarrays have blossomed into a fast developing and cutting-edge technology that promises to become a major component of personalized medicine. The 1990s witnessed a boom in many areas including genome sequencing, combinatorial chemistry, and c- puters, all of which have contributed to the development of microarray technology from its infancy into a mature tool. The growing potential of this tool is evident from the n- ber of publications since 1991 when Fodor et al. of Affymax (now Affymetrix) frst described the microarray prototype.

Neuropsychiatric disorders such as schizophrenia, mood disorders, Alzheimer s disease, epilepsy, alcoholism, substance abuse and others are some of the most debilitating illnesses worldwide characterizing by the complexity of the causes, and lacking the laboratory tests that may promote diagnostic and prognostic procedures. Recent advances in neuroscience, genomic, genetic, proteomic and metabolomic knowledge and technologies have opened the way to searching biomarkers and endophenotypes, which may offer powerful and exciting opportunity to understand the etiology and the underlying pathophysiological mechanisms of neuropsychiatric disorders. The challenge now is to translate these advances into meaningful diagnostic and therapeutic advances.

This book offers a broad synthesis of the current knowledge about diverse topics of the biomarker and endophenotype strategies in neuropsychiatry. The book is organized into four interconnected volumes: Neuropsychological Endophenotypes and Biomarkers (with overview of methodological issues of the biomarker and endophenotype approaches in neuropsychiatry and some technological advances), Neuroanatomical and Neuroimaging Endophenotypes and Biomarkers, Metabolic and Peripheral Biomarkers and Molecular Genetic and Genomic Markers . The contributors are internationally and nationally recognized researchers and experts from 16 countries.

This four-volume handbook is intended for a broad spectrum of readers including neuroscientists, psychiatrists, neurologists, endocrinologists, pharmacologists, clinical psychologists, general practitioners, geriatricians, health care providers in the field of neurology and mental health interested in trends that have crystallized in the last decade, and trends that can be expected to further evolve in the coming years. It is hoped that this book will also be a useful resource for the teaching of psychiatry, neurology, psychology and mental health."

Overgrowth Syndromes is a comprehensive clinical guide to the well-defined genetic disorders (and others that are less well-defined) for which somatic overgrowth is a major manifestation. It details the unique characteristics and known causative genes for this class of disorders, offering clinicians an expert resource for both clinical diagnosis and laboratory confirmation. Assembled by the world's leading experts on overgrowth, this volume maximizes clinical utility without sacrificing nuance or rigor. It codifies the last decade's sweeping advances in understanding general and segmental overgrowth, including the latter's mosaic nature and phenotypic variability. It is an essential resource for clinicians navigating this set of conditions from clinical presentation all the way to counseling and anticipatory management.

This book reaches out to a wide variety of professionals in the biomedical field with an interest in inflammatory bowel disease (IBD). Enormous progress has been made in the last few years since the publication of the first edition in the study of complex diseases and IBD, with hundreds of genomic regions identified that are associated with increased risk. Authored by leading clinical and research scientists in the field, the book includes state-of-the art synopses of recent genetic findings, and their interpretation for current and future exploitation in translational approaches to personalized medicine in IBD. The book also covers risk prediction, improved diagnostic and therapeutic precision, dissection of disease phenotypes and subtypes, identification of biomarkers, and host gene-microbiota interactions of clinical relevance.

This volume presents detailed laboratory procedures in an easy to follow format that can be carried out with success by investigators lacking previous exposure to a specific research method. Chapter guide readers through the application of molecular approaches to disease gene identification and overviews, and case studies are also presented. Written in the highly successful Methods in Molecular Biology series format, 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, Disease Gene Identification: Methods and Protocols, Second Edition aims to help with the identification and characterization of many more disease-related genes and provide novel, and effective strategies for disease treatment and prevention.

This book provides a current and integrated approach to the subject of genetic determinants of pulmonary disease with emphasis on physiologic derangements and genetic mechanisms. It describes the epidemiologic-genetic approach to chronic pulmonary disease.

Over the past two decades, spectacular advances have been made in our understanding of the molecular genetics of cancer, leading to the pursuit of identifying genes that, when mutated, result in an increased susceptibility to the disease. In Cancer Susceptibility: Methods and Protocols, experts in the field bring together the most recent technological developments for identifying and screening cancer susceptibility genes. Divided into two clear sections, the book begins with gene identification, which updates and informs scientists working at identifying novel cancer susceptibility genes, while the second part deals with mutation screening technologies that aid scientists and clinicians working to translate this knowledge into the clinic. Written in the highly successful Methods in Molecular Biology (TM) series format, chapters contain introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and notes on troubleshooting and avoiding known pitfalls. Authoritative and cutting-edge, Cancer Susceptibility: Methods and Protocols is a timely collection that seeks to provide researchers with the tools to predict and combat this terrible disease.

Outlines the laboratory diagnosis of a selected number of diseases which have relatively high incidence and existing screening programs.

The book provides an in-depth and comprehensive overview of the essential role of non-coding RNAs (ncRNAs) in bone formation. In combination with researches from multiple scholars in this field, the book reviews the mechanisms of ncRNA-related bone diseases, as well as the potential applications of RNA synthesis technology in bone disorder treatments. This volume covers the following topics: 1) basic introduction of non-coding RNA and bone development, how 2) microRNAs and 3) long noncoding RNAs (LncRNAs) regulate bone formation, 4) how ncRNAs and the corresponding pathways participate in bone metabolism diseases, 5) RNA synthesis technology and the possible RNA therapies in bone disease. Researchers and students in the fields of human genetics, human physiology, developmental biology and biomedical engineering, as well as professionals and scientists in Orthopedics, will particularly find this book helpful.