Genome Plasticity In Health And Disease

Book Description :

Genome Plasticity in Health and Disease provides a fully up-to-date overview on genome plasticity and its role in human physiology and disease. Following an introduction to the field, a diverse range of chapters cover genomic and epigenomic analysis and the use of model organisms and genomic databases in studies. Specific molecular and biochemical mechanisms of genome plasticity are examined, including somatic variants, De Novo variants, founder variations, isolated populations dynamics, copy-number variations, mobile elements, DNA methylation, histone modifications, transcription factors, non-coding RNAs, telomere dynamics and RNA editing. Later chapters explore disease relevance for cancer, as well as cardiovascular, neuropsychiatric, inflammatory, and endocrine disease, and associated pathways for drug discovery. Examines the role of genome plasticity across a range of disease types, from cardiovascular disease, to cancer and neuropsychiatric disorders Adopts an interdisciplinary approach, with expert contributions across the spectrum of basic science and disease relevance to drug discovery

Book Description :

Medical Genetics and Genomics A comprehensive question-and-answer book for those preparing for board examinations on clinical genetics Medical Genetics and Genomics: Questions for Board Review provides more than 350 high-yield multiple choice questions (MCQs) to help readers prepare for standardized examinations for accreditation and ongoing certification in the various fields of medical genetics and genomics, as well as other trainees and learners who want to understand more about the field. Written by a leading authority in clinical genetics with extensive teaching experience in academia, government, biotech, and in healthcare, this invaluable study aid covers essential terminology, clinical diagnosis and manifestations of specific conditions, laboratory and testing approaches, management of genetic conditions, and more. The questions are organized into thematic areas to help readers focus on specific areas within the field of genetics and genomics. Each section of questions is followed by fully annotated answers with concise explanations and up-to-date references. Throughout the book, high-quality illustrations are presented to enhance understanding of all key concepts. Contains more than 350 multiple choice questions covering multiple areas of genetics Provides clear and concise answers with brief and focused explanations Helpful for preparation for American Board of Medical Genetics and Genomics (ABMGG) and American Board of Genetic Counseling (ABGC) board examinations, as well as for general study of medical genetics and genomics Includes full references to scientific and medical articles, traditional textbooks, online articles, and other internet resources Medical Genetics and Genomics: Questions for Board Review is a must-have for clinical trainees, physicians, laboratory geneticists, genetic counselors, and allied health professionals working in medical genetics.

Book Description :

This landmark publication provides the first definitive account of how and why subtle influences on the fetus and during early life can have such profound consequences for adult health and diseases. Although the epidemiological evidence for this link has long proved compelling, it is only much more recently that the scientific and physiological basis has begun to be studied in depth and fully understood. The compilation, written by many of the world's leading experts in this exciting field, summarizes these scientific and clinical advances.

Book Description :

The second edition of this textbook written for undergraduate students, graduate students and medical researchers, Genetics and Genomics in Medicine explains the science behind the uses of genetics and genomics in medicine today, and how it is being applied. Maintaining the features that made the first edition so popular, this second edition has been thoroughly updated in line with the latest developments in the field. DNA technologies are explained, with emphasis on the modern techniques that are revolutionizing the use of genetic information in medicine and indicating the role of genetics in common diseases. Epigenetics and non-coding RNA are covered in-depth as are genetic approaches to treatment and prevention, including pharmacogenomics, genetic testing, and personalized medicine. A dedicated chapter charts the latest insights into the molecular basis of cancers, cancer genomics and novel approaches to cancer detection. Coverage of genetic testing at the level of genes, chromosomes and genomes has been significantly expanded and updated. Extra prominence has been given to additional genomic analyses, ethical aspects, and novel therapeutic approaches. Various case studies illustrate selected clinical applications. Key Features Comprehensive and integrated account of how genetics and genomics affect the entire spectrum of human health and disease Exquisite artwork illuminates the key concepts and mechanisms Summary points at the end of each chapter help to consolidate learning For each chapter, an abundance of further reading to help provide the reader with direction for further study Inclusive online question bank to test understanding Standard boxes summarizing certain key principles in genetics Clinical boxes summarizing selected case studies, pathogenesis mechanisms or novel therapies for selected diseases This book is equally suited for newcomers to the field as well as for engineers and scientists that have basic knowledge in this field but are interested in obtaining more information about specific future applications..

Book Description :

This unique book explores the role of retrotransposons in human health and disease. The ability of retrotransposons to affect the structure of human genes is recognized since the late 80’s. However, the advances of deep-sequencing technologies have shed new light on the extent of retrotransposon-mediated genome variations. These progresses have also led to the discovery that retrotransposon activity is not restricted to the germline - resulting in inheritable genetic variations - but can also mobilize in somatic tissues, such as embryonic stem cells, neuronal progenitor cells, or in many cancers. This book covers topics related to the effects of retrotransposon insertions, and their consequences on germline and somatic genome dynamics, but also discuss the role and impact of retrotransposons sequences in a broader context, including a number of novel topics that emerged recently (long non-coding RNA, neuronal disorders, exaptation) with unexpected connections between retrotransposons, stem cell maintenance, placentation, circadian cycles or aging.

Book Description :

The Flax Genome is a comprehensive compilation of most recent studies focused on reference genome, genetic resources and molecular diversity, breeding, QTL mapping, gene editing tools, functional genomics and metabolomics, molecular breeding via genomic selection, and genomic resources. The flax genome reference sequences and the new genome assemblies are presented. A list of flax QTL and candidate genes associated with more than 35 traits, including yield and agronomic, seed quality and fatty acid composition, fibre quality and yield, abiotic stress, and disease resistance traits, are summarized. A QTL- based genomic selection strategy and genome–editing tools are systematically introduced. In addition, huge amounts of flax genomic resources generated in the last decade are summarized. The book contains 13 chapters with about 390 pages authored by globally reputed researchers in the relevant fields to this crop The book is intended to be useful to students, teachers, and researchers interested in traditional and molecular breeding, pathology, molecular genetics and breeding, bioinformatics and computational biology, and functional genomics

Book Description :

DNA Methylation and Complex Human Disease reviews the possibilities of methyl-group-based epigenetic biomarkers of major diseases, tailored epigenetic therapies, and the future uses of high-throughput methylome technologies. This volume includes many pertinent advances in disease-bearing research, including obesity, type II diabetes, schizophrenia, and autoimmunity. DNA methylation is also discussed as a plasma and serum test for non-invasive screening, diagnostic and prognostic tests, as compared to biopsy-driven gene expression analysis, factors which have led to the use of DNA methylation as a potential tool for determining cancer risk, and diagnosis between benign and malignant disease. Therapies are at the heart of this volume and the possibilities of DNA demethylation. In cancer, unlike genetic mutations, DNA methylation and histone modifications are reversible and thus have shown great potential in the race for effective treatments. In addition, the authors present the importance of high-throughput methylome analysis, not only in cancer, but also in non-neoplastic diseases such as rheumatoid arthritis. Discusses breaking biomarker research in major disease families of current health concern and research interest, including obesity, type II diabetes, schizophrenia, and autoimmunity Summarizes advances not only relevant to cancer, but also in non-neoplastic disease, currently an emerging field Describes wholly new concepts, including the linking of metabolic pathways with epigenetics Provides translational researchers with the knowledge of both basic research and clinic applications of DNA methylation in human diseases

Book Description :

Comprehensive examination of the current understanding of pathogen adaptation and microevolution. • Introduces the rapidly evolving field of genome plasticity, presents the latest research findings, and explores the relevance of these findings to infection and infection control. • Compiles and analyzes current investigations on the genome fluidity of pathogenic microbes. • Explores bacteria, viruses, fungi, and parasites from the aspect of host genome plasticity and its impact on infection.

Book Description :

This book addresses the role of tandem repeat polymorphisms (TRPs) in genetic plasticity, evolution, development, biological processes, neural diversity, brain function, dysfunction and disease. There are hundreds of thousands of unique tandem repeats in the human genome and their polymorphic distributions have the potential to greatly influence functional diversity and disease susceptibility. Recent discoveries in this expanding field are critically reviewed and discussed in a range of subsequent chapters, with a focus on the role of TRPs and their various gene products in evolution, development, diverse molecular and cellular processes, brain function and disease.

Book Description :

This work explores and analyses the ways in which our ancient genes contend with, and influence, modern human life. It offers coverage of the points of contact between evolutionary biology and medical science.

Book Description :

Download Advances in Diagnostics and Treatment of Functional Neurological Disorders Neurogenomics Neuromodulation and Machine Learning book written by Guohui Lu,Chencheng Zhang,Giovanni Mirabella,Yiwen Wu, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Book Description :

Over 98% of the human genome contains non-coding DNA sequences. For many years molecular biologists referred to this component of the genome as the “junk” DNA since it does not code for any “useful” protein product. Over the last years this notion changed significantly as scientists discovered that a large part of this DNA contains various genomic elements that have important roles in cell physiology. Genomic elements such as non-coding RNAs, transposons, splicing RNAs, DNA repeats and others were shown to play a significant role in regulating gene expression. In addition, all these elements were implicated to contribute in the pathogenesis or progression of various human diseases. In this book, the editor will attempt to describe all these genomic elements that constitute the junk DNA of the genome. For every genomic element, the physiologic role in the organism, its role in evolution and any possible involvement in human diseases will be discussed. Additionally, interaction between these elements in normal or pathologic condition will be discussed. Since a large amount of new knowledge is generated daily in regards to these genomic elements, this book will attempt to combine all the information in a single publication that can serve as a reference for future studies. The first part will discuss RNA elements such as microRNAs, long non-coding RNAs, piRNAs and splicing RNAs. The second part of the book will deal with transposons, retrotransposons and DNA transposons. Finally the third part of the book will discuss DNA elements that include DNA repeats, conserved non-coding sequences, distal genomic elements, introns, pseudogenes, CpG islands and telomeres. For miRNAs and CNVs a separate chapter will be dedicated to their role in human diseases since an extensive amount of information exists about these two elements.

Book Description :

Medicine is grounded in the natural sciences, among which biology stands out with regard to the understanding of human physiology and conditions that cause dysfunction. Ironically though, evolutionary biology is a relatively disregarded field. One reason for this omission is that evolution is deemed a slow process. Indeed, macroanatomical features of our species have changed very little in the last 300,000 years. A more detailed look, however, reveals that novel ecological contingencies, partly in relation to cultural evolution, have brought about subtle changes pertaining to metabolism and immunology, including adaptations to dietary innovations, as well as adaptations to the exposure to novel pathogens. Rapid pathogen evolution and evolution of cancer cells cause major problems for the immune system to find adequate responses. In addition, many adaptations to past ecologies have turned into risk factors for somatic disease and psychological disorder in our modern worlds (i.e. mismatch), among which epidemics of autoimmune diseases, cardiovascular diseases, diabetes and obesity, as well as several forms of cancer stand out. In addition, depression, anxiety and other psychiatric conditions add to the list. The Oxford Handbook of Evolutionary Medicine is a compilation of cutting edge insights into the evolutionary history of ourselves as a species, and how and why our evolved design may convey vulnerability to disease. Written in a classic textbook style emphasising physiology and pathophysiology of all major organ systems, the Oxford Handbook of Evolutionary Medicine will be valuable for students as well as scholars in the fields of medicine, biology, anthropology and psychology.

Book Description :

Preceded by Genomics and clinical medicine / edited by Dhavendra Kumar. [First edition]. 2008.

Book Description :

Cellular Endocrinology in Health and Disease describes the underlying basis of endocrine function, providing an important tool to understand the fundamentals of endocrine diseases. Delivering a comprehensive review of the basic science of endocrinology, from cell biology to human disease, this work explores and dissects the function of a number of cellular systems. Among these are those whose function was not obvious until recently, including the endocrine functions of bone and the adipose tissue. Providing content that crosses disciplines, Cellular Endocrinology in Health and Disease details how cellular endocrine function contributes to system physiology and mediates endocrine disorders. A methods section proves novel and useful approaches across research focus that will be attractive to medical students, residents, and specialists in the field of endocrinology, as well as to those interested in cellular regulation. Editors Alfredo Ulloa-Aguirre and P. Michael Conn, experts in molecular and cellular aspects of endocrinology, deliver contributions carefully selected for relevance, impact, and clarity of expression from leading field experts. Covers systemic endocrine action at the cellular level in both health and disease Delivers information on the integration of cell identity and endocrinology Incorporates recent developments in endocrinology to provide an up-to-date reference to researchers

Book Description :

Neuroscience has made phenomenal advances over the past 50 years and the pace of discovery continues to accelerate. On June 25, 2008, the Institute of Medicine (IOM) Forum on Neuroscience and Nervous System Disorders hosted more than 70 of the leading neuroscientists in the world, for a workshop titled "From Molecules to Minds: Challenges for the 21st Century." The objective of the workshop was to explore a set of common goals or "Grand Challenges" posed by participants that could inspire and rally both the scientific community and the public to consider the possibilities for neuroscience in the 21st century. The progress of the past in combination with new tools and techniques, such as neuroimaging and molecular biology, has positioned neuroscience on the cusp of even greater transformational progress in our understanding of the brain and how its inner workings result in mental activity. This workshop summary highlights the important issues and challenges facing the field of neuroscience as presented to those in attendance at the workshop, as well as the subsequent discussion that resulted. As a result, three overarching Grand Challenges emerged: How does the brain work and produce mental activity? How does physical activity in the brain give rise to thought, emotion, and behavior? How does the interplay of biology and experience shape our brains and make us who we are today? How do we keep our brains healthy? How do we protect, restore, or enhance the functioning of our brains as we age?

Book Description :

Genetics and Evolution of Infectious Diseases is at the crossroads between two major scientific fields of the 21st century: evolutionary biology and infectious diseases. The genomic revolution has upset modern biology and has revolutionized our approach to ancient disciplines such as evolutionary studies. In particular, this revolution is profoundly changing our view on genetically driven human phenotypic diversity, and this is especially true in disease genetic susceptibility. Infectious diseases are indisputably the major challenge of medicine. When looking globally, they are the number one killer of humans and therefore the main selective pressure exerted on our species. Even in industrial countries, infectious diseases are now far less under control than 20 years ago. The first part of this book covers the main features and applications of modern technologies in the study of infectious diseases. The second part provides detailed information on a number of the key infectious diseases such as malaria, SARS, avian flu, HIV, tuberculosis, nosocomial infections and a few other pathogens that will be taken as examples to illustrate the power of modern technologies and the value of evolutionary approaches. Takes an integrated approach to infectious diseases Includes contributions from leading authorities Provides the latest developments in the field

Book Description :

New Horizons in Health discusses how the National Institutes of Health (NIH) can integrate research in the social, behavioral, and biomedical sciences to better understand the causes of disease as well as interventions that promote health. It outlines a set of research priorities for consideration by the Office of Behavioral and Social Sciences Research (OBSSR), with particular attention to research that can support and complement the work of the National Institutes of Health. By addressing the range of interactions among social settings, behavioral patterns, and important health concerns, it highlights areas of scientific opportunity where significant investment is most likely to improve nationalâ€"and globalâ€"health outcomes. These opportunities will apply the knowledge and methods of the behavioral and social sciences to contemporary health needs, and give attention to the chief health concerns of the general public.

Book Description :

Download Molecular Biology of the Cell book written by Bruce Alberts, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Book Description :

WHAT IS EPIGENETICS? Epigenetics is an emerging field of science that studies alterations in gene expression caused by factors other than changes in the DNA sequence. Epigenetics: The Death of the Genetic Theory of Disease Transmission is the result of decades of research and its findings that could be as critical to our understanding of human health as Pasteur’s research in bacteriology. Dr. Joel “Doc” Wallach has dedicated his life work to identifying connections between certain nutritional deficiencies and a range of maladies, formerly thought to be hereditary, including Cystic Fibrosis and Muscular Dystrophy. This nexus between nutrition and so-called genetic disease has been observed in both humans and primates, and it is the central theme of Epigenetics. To bring us Epigenetics, Wallach has teamed with noted scholars Dr. Ma Lan and Dr. Gerhard N. Schrauzer. Their collective expertise gives this book its far reaching perspective. Epigenetics is of vital importance to anyone who wants real knowledge about how the human body functions, and it provides a path for better health. Epigentics dispels the dogma and misinformation propagated by medical institutions and doctors resistant to change. Epigenetics is the beginning of a new era of well-being on this planet.