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 book provides a comprehensive compilation of the evidence available regarding the role of genetic differences in the etiology of human obesities and their health and metabolic implications. It also identifies the most promising research areas, methods, and strategies for use in future efforts to understand the genetic basis of obesities and their consequences on human health. Leading researchers in their respective fields present contributed chapters on such topics as etiology and the prevalence of obesities, nongenetic determinants of obesity and fat topography, and animal models and molecular biological technology used to delineate the genetic basis of human obesities. A major portion of the book is devoted to human genetic research and clinical observations encompassing adoption studies, twin studies, family studies, single gene effects, temporal trends and etiology heterogeneity, energy intake and food preference, energy expenditure, and susceptibility to metabolic derangements in the obese state. Future directions of research in the field are covered in the book as well.

This volume discusses the latest technologies used to study all aspects of Fragile-X Syndrome (FXS). The chapters in this book cover topics such as monitoring for epigenetic modifications at the FMR1 locus; modeling FXS with human pluripotent stem cells, mouse neural progenitors; mouse versus human-based models for FXS pre-clinical research; and Fragile-X associated with Tremor/Ataxia Syndrome (FXTAS). 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. Cutting-edge and thorough, Fragile-X Syndrome: Methods and Protocols is a valuable tool to help scientists working towards one day developing a therapeutic solution to improve the symptoms of FXS. Chapter "Induced Neurons for the Study of Neurodegenerative and Neurodevelopmental Disorders" is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com.

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.

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.

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.

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 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.

The burgeoning new science of epigenetics offers a cornucopia of insights some comforting, some frightening. For example, the male fetus may be especially vulnerable to certain common chemicals in our environment, in ways that damage not only his own sperm but also the sperm of his sons. And it s epigenetics that causes identical twins to vary widely in their susceptibility to dementia and cancer. But here s the good news: unlike mutations, epigenetic effects are reversible. Indeed, epigenetic engineering is the future of medicine."

Long recognized as a leading textbook in this fast-moving field, Emery's Elements of Medical Genetics and Genomics offers current, complete information with a strong basis in practical clinical genetics and genomics for medical school and beyond. The 16th Edition of this award-winning text has been thoroughly updated throughout and includes case-based and multiple-choice questions, end-of-chapter summaries, an extensive glossary, and convenient online access, making it an ideal choice for all medical undergraduates as well as postgraduates seeking to improve their understanding and knowledge. Includes new case-based studies with questions and answers throughout, in addition to multiple-choice self-assessment questions for study and review. Covers key topics such as pharmacogenetics, personalized medicine, prenatal testing, reproductive genetics, and ethical and legal issues in medical genetics. Divides the text into three easy-to-use sections: The Scientific Basis of Human Genetics, Genetics in Medicine and Genomic Medicine, and Clinical Genetics, Counseling and Ethics Features full-color illustrations and other images that help readers visualize the appearance of genetic disorders and assist with the understanding of complex genetic structures. Contains learning features such as summary boxes, an extensive glossary of terms, online hyperlinks to important genetics websites and clinical databases, and more. Presents the extensive knowledge and experience of distinguished editors Peter D. Turnpenny and Sian Ellard, as well as new editor Ruth Cleaver. Enhanced eBook version included with purchase. Your enhanced eBook allows you to access all of the text, figures, and references from the book on a variety of devices.

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.

This book describes the identification and characterization of genetic loci that determine susceptibility to liver, mammary, or skin carcinogenesis in rodents. It focuses on protein kinases and phospholipases, and stress-related signal transduction.

Very Short Introductions: Brilliant, Sharp, Inspiring In this exploration of the concept of the gene, Jonathan Slack looks at the discovery, nature, and role of genes in both evolution and development. By explaining the nature of genetic variation in the human population, how hereditary factors were identified as molecules of DNA, and how certain specific mutations can lead to disease, Slack highlights how DNA variants are used to trace human ancestry and migration, and can also be used by forensic scientists to identify individuals in crime. He also explores issues such as the role of genetic heritability and IQ as well as the changes that occur in the genes of populations during evolution. An ideal guide for anyone curious about what genes are and how genetics can be put to use, this Very Short Introduction demonstrates the ways in which the gene concept has been understood and used by molecular biologists, population biologists, and social scientists around the world. This second edition has been fully updated and contains new sections on the CRISPR method for targeted genetic modification, on DNA profiling, and developments in our understanding of human ancestry using ancient DNA. ABOUT THE SERIES: The Very Short Introductions series from Oxford University Press contains hundreds of titles in almost every subject area. These pocket-sized books are the perfect way to get ahead in a new subject quickly. Our expert authors combine facts, analysis, perspective, new ideas, and enthusiasm to make interesting and challenging topics highly readable.

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.

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.

"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.

"

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.

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.

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."

The analysis and interpretation of data is fundamental to the subject of genetics and forms a compulsory part of the undergraduate genetics curriculum. Indeed, the key skills that a genetics student requires are an ability to design and understand experimental strategies and to use problem-solving skills to interpret experimental results and data. Genetics? No Problem! provides students with a graded set of problems that aim to enthuse, challenge and entertain the reader. The book is divided into three sections introductory; intermediate and advanced each with 10 problems. For first level students there will be short genetics problems embedded in a wide range of scenarios, such as murder mysteries. As the book progresses, the stories will get longer and the science will get progressively more complex to challenge final year students and enable the reader to identify genetic disease in obscure organisms as well as designing and testing treatments and cures. Genetics? No Problem!: * Takes a unique, innovative approach that provides students with a set of graded problems designed to develop both their skills, and their ability to tackle problems with confidence * Includes problems embedded in a narrative, written in an interesting, informative and entertaining style by an Author with a proven track record in teaching, research and communication * Is well illustrated in full colour throughout. The book will prove invaluable to all students of genetics across a range of disciplines needing to get to grips with the analysis and interpretation of data that is fundamental to the subject.

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.

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.