This book provides a full and practical account of management of myotonic dystrophy, the commonest muscular dystrophy of adult life and a condition of exceptional variability. Written for neurologists, clinical geneticists and other clinical geneticists and other clinical specialties involved with the disorder, it deals with both the neurological aspects and also the wide range of systematic complications that may occur. In addition it provides details of information and support available to patients and families and gives a summary of the present state of clinical trials of therapeutic agents. These sections are preceded by general introductory chapters describing both the clinical features and also the current state of research into understanding the underlying mechanisms.

Onora O'Neill suggests that the conceptions of individual autonomy (so widely relied on in bioethics) are philosophically and ethically inadequate; they undermine rather than support relationships based on trust. Her arguments are illustrated with issues raised by such practices as the use of genetic information by the police, research using human tissues, new reproductive technologies, and media practices for reporting on medicine, science and technology. The study appeals to a wide range of readers in ethics, bioethics and related disciplines.

In the past, medical researchers and practicing clinicians have lacked a single, comprehensive resource on chromosome disorders, the cause of a wide variety of growth abnormalities and miscarriages. As new syndromes are being defined and known syndromes better described, patients with chromosomal abnormalities and their families are making greater demands on professionals for more extensive information. Consisting of more than 200 chromosomal aneuploidy syndromes, the Handbook of Chromosomal Syndromes is the most up-to-date reference to focus exclusively on clinical syndromes due to chromosomal abnormalities.

This fully illustrated guide is ideal for clinicians to use as a ready reference and for treatment and counseling of families and expectant parents facing abnormal prenatal tests. For each syndrome, this easy-to-use guide offers a complete description of clinical presentation, with illustrations, as well as information on behavioral aspects, life expectancy, diagnosis, and cytogenetics. Features of the text include:

• A section devoted to the nomenclature of chromosome abnormalities
• Pictorial material suitable to be shown to patient populations
• Descriptions of the phenotype in tabular and text form for quick and easy reference
• Ideograms for each entry
• A list of key references

Practicing clinicians–including primary care providers, pediatricians, and obstetricians–genetic counselors, researchers, and clinical and medical geneticists will find the Handbook of Chromosomal Syndromes to be an indispensable resource.

Radiology to me is an art more than a science; an art of imaging the human body, and an art of extracting information from an image. Radiology today is a vital specialty that almost no other medical specialty can work without. Congenital anomalies and syndromes are complex subjects in all medical specialties. They require knowledge of the normal anatomy and of the embryological basis of organogenesis. The importance of recognizing a congenital malformation or an anomaly, which can be the tip of an iceberg of a more complex syndrome, is to prevent future manifestations of a s- drome if possible or to reduce its severity. Due to this concept, I had an interest in studying how to use the radiological modalities in diagnosing congenital malfor- tions as early as possible. Although radiology offers very powerful tools for diag- sis, the basics of medicine are still the main tools to be used for diagnosis. History, observation, clinical examination, and laboratory investigations are essential elements for diagnosis, which need to be used before radiology investigations are initiated. The idea of this book is based on a simple principle: it is to link radiology to these basic medical tools. The book is written for junior radiologists, radiology students, and doctors interested in congenital malformations and syndromes in any specialty. Each disease is represented with a de? nition, description, etiology, diagnostic cri- ria, main symptoms, and its typical diagnostic radiological features on the modern radiological modalities available today.

This valuable handbook provides a detailed step-by step solution or lengthy discussion for every problem in the text. The handbook also features additional study aids, including extra study problems, chapter outlines, vocabulary exercises, and an overview of how to study genetics.

Gene Therapy describes the delivery systems now available to target a given tissue with specific gene or oligonucleotide sequences, and explores the utility of animal modules as test systems. In the context of selected disease states, it summarises in vitro and in vivo studies and clinical trials performed to date.

This book is being planned as a tribute to Dr. Victor A. McKusick (1921-2008), who is well known as the "father of medical genetics". He was long associated with the Johns Hopkins University School of Medicine, first as a student in the 1940s, and later as a faculty member, becoming the Chairman of the Department of Medicine at Johns Hopkins. He was a co-founder of GENOMICS and founder and lifelong editor of Mendelian Inheritance in Man, a massive compendium of human syndromes and genetic variants. Dr. McKusick made distinguished contributions to all branches of medical genetics. He was a member of the U.S. National Academy of Sciences and many other academies in the world. He was awarded the National Medal of Science in 2002. He received many other honors including several honorary doctorates. The proposed book will reflect all the fields touched upon by Dr. McKusick's contributions. It will be a valuable source of the latest progress in medical genetics. The contributors are internationally distinguished in their chosen specialties. Besides professional distinction, they are being selected because of their past association with Dr. McKusick, as former students or colleagues who extended his research in some fashion. The proposed book will reflect all the fields touched upon by Dr. McKusick's contributions. It will be a valuable source of the latest progress in medical genetics. The contributors are internationally distinguished in their chosen specialties. Besides professional distinction, they are being selected because of their past association with Dr. McKusick, as former students or colleagues who extended his research in some fashion.

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 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 new edition explores current and emerging mutagenesis methods focusing specifically on mammalian systems and commonly used model organisms through comprehensive coverage and detailed protocols. Since the first edition, major advances and discoveries have made chromosomal mutagenesis a widely used technique and one that is available to any molecular biology laboratory, and this collection provides detailed protocols, case-studies, and reviews from thought-leaders in the field. 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 fully updated, Chromosomal Mutagenesis, Second Edition aims to help speed scientific discovery and aid in the next advances in the field.

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 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.

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.

Overall, this book illustrates the complexities of the regulation and deregulation of genes mediated through epigenetics in the development and progression of human malignancies. All the articles have been carefully chosen to represent several cancer systems with state of our knowledge on the role of epigenetic deregulation of microRNAs (miRNAs) and their target mRNAs along with epigenetic deregulation of mRNAs. This book also illustrates the role of several dietary agents, collectively called nutraceuticals or natural agents in modulating the epigenetic reprogramming of miRNAs and mRNAs for the prevention and/or treatment of human malignancies. It is well known that genetic aberrations, especially inherited through parents (somatic genetic alterations) contribute to the development of less than 10% of all cancer yet epigenetic alterations in genes especially through selective methylation and acetylation appears to be responsible for the development and progression of the vast majority of all cancers. Therefore, understanding the role of epigenetics in the regulation of genes especially through deregulated expression of miRNAs as presented in this book will allow scientists to devise targeted therapeutic strategies for re-expression of the lost genes or down-regulate the genes that are over-expressed in order to eradicate cancer. It is hoped that targeting epigenetics will not only target cancer cells but it will also target the tumor microenvironment (more like the entire tumor environment such as the entire host) for achieving better treatment outcomes for patients diagnosed with cancer which will lead to achieve the long-term objective for complete eradication of cancer. This book contains fifteen chapters which begins with the concept of systems and network biology for investigating the epigenetics of cancer followed by a series of articles on the role of miRNAs and their target genes in the biology of pancreatic cancer and other cancers such as breast, kidney, prostate and and colon. Since it is becoming increasingly clear that cancer stem cells (CSCs) are important in the development and progression of cancer, and CSCs are important in therapeutic resistance, treatment failure and tumor recurrence, thus the importance of CSCs and epigenetics has been highlighted by a very timely article on epigenetic variations of stem cell markers in cancer including miRNAs. Moreover, just targeting heterogeneous cancer cell populations may not be optimal to eradicate tumors and for which one must take a holistic approach for developing drugs that could also target the tumor microenvironment and tumor dormancy that are regulated through epigenetics. Keeping abreast with this thought process the concluding chapter provides a concept towards curative cancer therapy with maspin, which could be a unique window of opportunity to target tumor dormancy. Therefore, it suggest that targeting the tumor dormancy and the tumor microenvironment using novel therapeutics specifically by targeting epigenetics would become the future of medicine.

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 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 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.

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."

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 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.

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.