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Books > Medicine > Pre-clinical medicine: basic sciences > Medical genetics
Understanding the genetic architecture underlying complex multigene disorders is one of the major goals of human genetics in the upcoming decades. Advances in whole genome sequencing and the success of high throughput functional genomics allow supplementing conventional reductionist biology with systems-level approaches to human heredity and health as systems of interacting genetic, epigenetic, and environmental factors. This integrative approach holds the promise of unveiling yet unexplored levels of molecular organization and biological complexity. It may also hold the key to deciphering the multigene patterns of disease inheritance.
Good health and medical care in childhood and adolescence are essential for the ability to neutralize health threats later in life and to extend longevity. Thus, pediatric diseases, diagnostics and treatment justifiably draw ever increasing attention. The book highlights recent advances and innovations in gastroesophageal ailments, often missed in children, respiratory infections, and in genetically determined immune malfunctions such as familial hemophagocytic lymphohistiocytosis, known as a cytokine storm, renal vasculitis, or thyroid and growth anomalies. Functional genomics has become part of genetic counseling aimed at early diagnosis and treatment of chromosomal aberrations underlying congenital malformations. Deeper insights into childhood morbidity require identification of the pathways and biological processes most affected which could become drug targets. This book is dedicated to practical aspects of multifactorial disease processes of young age. It will be of interest to pediatricians, family doctors, and clinical researchers.
Effective care of the cancer patient increasingly involves systemic treatment, and as the range of available therapeutic agents continues to expand, the medical oncologist must be fully aware of the rationale for choosing specific drugs and combinations. Textbook of Medical Oncology, 4th edition, is written by a highly acclaimed list of international authors and is a key source of reference for all working in the field of oncology.
Presents the State-of-the-Art in Fat Taste Transduction A bite of cheese, a few potato chips, a delectable piece of bacon a small taste of high-fat foods often draws you back for more. But why are fatty foods so appealing? Why do we crave them? Fat Detection: Taste, Texture, and Post Ingestive Effects covers the many factors responsible for the sensory appeal of foods rich in fat. This well-researched text uses a multidisciplinary approach to shed new light on critical concerns related to dietary fat and obesity. Outlines Compelling Evidence for an Oral Fat Detection System Reflecting 15 years of psychophysical, behavioral, electrophysiological, and molecular studies, this book makes a well-supported case for an oral fat detection system. It explains how gustatory, textural, and olfactory information contribute to fat detection using carefully designed behavioral paradigms. The book also provides a detailed account of the brain regions that process the signals elicited by a fat stimulus, including flavor, aroma, and texture. This readily accessible work also discusses:
Providing a comprehensive review of the literature from the leading scientists in the field, this volume delivers a holistic view of how the palatability and orosensory properties of dietary fat impact food intake and ultimately health. Fat Detection represents a new frontier in the study of food perception, food intake, and related health consequences.
The advances in human genetics that have ocurred during the past 20 years have revolutionized our knowledge of the role played by inheritance in health and disase. It is clear that our DNA determines not only the emergence of catastrophic single-gene disorders, which affect millions of persons worldwide, but also interacts with environments to predispose individuals to cancer, allergy, hypertension, heart disease, diabetes, psychiatric disorders and even to some infectious diseases. Overall, the study of longevity and the demonstration of genes favouring a long lifespan suggest that such protective systems exist. In recent years, the study of genetic polymorphisms has made clear that some alleles have beneficial effects. These discoveries can substantially improve our understanding of the interactions between genetics and the environment, between pathogenetic mechanisms and new treatments.
This volume offers readers an opportunity to learn about how genomes are sequenced, what discoveries have so far come out of this scientific revolution, and about the ethical dimensions of this advancing technology. The revised edition focuses on the new advances in genome technology and builds upon the strong basic biological format that was established in the original publication. It also takes advantage of the recent major advances in genome level sequencing and analysis to demonstrate the vast increase in biological knowledge over the past decade.
Disease Pathways: An Atlas of Human Disease Signaling Pathways is designed to fill a void of illustrated reviews about the cellular mechanisms of human diseases. It covers 42 of the most common non-oncologic diseases and illustrates the connections between the molecular causes of the disease and its symptoms. This resource provides readers with detailed information about the disease molecular pathways, while keeping the presentation simple. Pathway models that aggregate the knowledge about protein-protein interactions have become indispensable tools in many areas of molecular biology, pharmacology, and medicine. In addition to disease pathways, the book includes a comprehensive overview of molecular signaling biology and application of pathway models in the analysis of big data for drug discovery and personalized medicine. This is a must-have reference for general biologists, biochemists, students, medical workers, and everyone interested in the cellular and molecular mechanisms of human disease.
New technologies allow us to handle increasingly large datasets, while monitoring devices are becoming ever more sophisticated. This high-tech progress produces statistical units sampled over finer and finer grids. As the measurement points become closer, the data can be considered as observations varying over a continuum. This intrinsic continuous data (called functional data) can be found in various fields of science, including biomechanics, chemometrics, econometrics, environmetrics, geophysics, medicine, etc. The failure of standard multivariate statistics to analyze such functional data has led the statistical community to develop appropriate statistical methodologies, called Functional Data Analysis (FDA). Today, FDA is certainly one of the most motivating and popular statistical topics due to its impact on crucial societal issues (health, environment, etc). This is why the FDA statistical community is rapidly growing, as are the statistical developments . Therefore, it is necessary to organize regular meetings in order to provide a state-of-art review of the recent advances in this fascinating area. This book collects selected and extended papers presented at the second International Workshop of Functional and Operatorial Statistics (Santander, Spain, 16-18 June, 2011), in which many outstanding experts on FDA will present the most relevant advances in this pioneering statistical area. Undoubtedly, these proceedings will be an essential resource for academic researchers, master students, engineers, and practitioners not only in statistics but also in numerous related fields of application. "
Given this pervasiveness and importance of miRNA-mediated gene regulation, it should come as little surprise that miRNAs themselves are also highly regulated. However, the recent explosion of knowledge on this topic has been remarkable, providing a primary motivation for publication of this book. As miRNAs are transcribed by RNA polymerase II, the enzyme that also generates mRNAs, it was perhaps not unexpected that miRNA transcription would be subject to regulation, and we have willfully mitted this aspect from this monograph. However, what has been unexpected is the extent of post-transcriptional regulation of miRNAs that is illustrated in this book.
This book offers a valuable contribution to contemporary legal literature, providing deep insights into the interface between law and genetics, highlighting emerging issues and providing meaningful solutions to current problems. It will be of interest to a broad readership, including academics, lawyers, policy makers and scholars engaged in interdisciplinary research. In the context of examining and analyzing the legal and social implications arising from the recent conjunction of biotechnology and intellectual property rights, the book particularly focuses on human genes and gene variations. Emphasis is placed on "patent law," as a considerable percentage of genetic inventions are covered by patents. The book presents a comparative and critical examination of patent laws and practices related to biotechnology patents in the United States, Canada, European Union and India, in order to gather the common issues and the differences between them. The international patent approach regarding biotechnology is also analyzed in light of the constant conflict between differentiation and harmonization of patent laws. The book highlights the potential gaps and uncertainties as to the scope of numerous terms such as invention, microorganisms, microbiological processes, and essential biological processes under TRIPS. Also analyzed are the social and policy implications of patents relating to genetic research tools and genetic testing. The intricacies involved in providing effective intellectual property protection to bioinformatics and genomic databases are also examined. Bearing in mind the collaborative nature of bioinformatics and genomic databases, the book evaluates the pros and cons of open biotechnology and assesses the implications of extending intellectual property rights to human genetic resources, before explaining the ownership puzzle concerning human genetic material used in genetic research.
Standing at the forefront of neurogenetic medicine, Neurogenetics: Scientific and Clinical Advances supplies the tools and information clinicians need to become familiar with modern neurogenetic approaches and apply the data gleaned from these technologies to the diagnosis and treatment of neurogenetic disorders, as well as traditionally non-genetic conditions such as Parkinson's and Alzheimer's disease.
New discoveries about the genetic underpinnings of many kinds of human experience are now continually being made. This book explores the impact of these discoveries on the ways in which the common mental disorders are best conceptualized and treated. Most people think of research in genetics as the search for genes. This is only one focus of effort, and even with the reliable identification of susceptibility genes, the clinical applications of their discovery, such as gene therapies and new drug development, are a long way off. For the present, the impact of genetic research on our understanding of mental illness is tied to our ability to estimate the effect of all genes by means of family, twin, and adoption studies. The results of these studies challenge some deeply cherished ideas and theories, and support others. Of course, the effect of genes is only half the equation. The role of experience, environment, and living conditions accounts for as much, often considerably more, of the variability in psychopathology. In this book, Kerry Jang attempts not to answer questions about what is "genetic" and what is not, but about what a knowledge of the relative influence of genes versus environment means at a psychological level of analysis--to show how it changes common assumptions about classification, etiology, diagnosis, and intervention. He first offers an overview of contemporary behavioral genetics, dispels common misconceptions, responds to the criticisms that have been leveled at this new field, and describes in basic terms how genetic and environmental effects are estimated and how susceptibility genes are pinpointed. He then points to new directions in which standard nosological systems are likely to evolve as new information about vulnerabilities and covariances emerges. Finally, he synthesizes and evaluates the consistency of the last decade's findings for the most common categories of psychopathology that have been studied by behavior geneticists: mood, personality, and anxiety disorders, substance abuse; and schizophrenia and the psychotic disorders. Clinicians and researchers alike need to understand the genetic influences on the feelings and behaviors they are seeking to change or study if they are to be effective in their work. The Behavioral Genetics of Psychopathology: A Clinical Guide empowers them with this understanding.
New discoveries about the genetic underpinnings of many kinds of human experience are now continually being made. This book explores the impact of these discoveries on the ways in which the common mental disorders are best conceptualized and treated. Most people think of research in genetics as the search for genes. This is only one focus of effort, and even with the reliable identification of susceptibility genes, the clinical applications of their discovery, such as gene therapies and new drug development, are a long way off. For the present, the impact of genetic research on our understanding of mental illness is tied to our ability to estimate the effect of all genes by means of family, twin, and adoption studies. The results of these studies challenge some deeply cherished ideas and theories, and support others. Of course, the effect of genes is only half the equation. The role of experience, environment, and living conditions accounts for as much, often considerably more, of the variability in psychopathology. In this book, Kerry Jang attempts not to answer questions about what is "genetic" and what is not, but about what a knowledge of the relative influence of genes versus environment means at a psychological level of analysis--to show how it changes common assumptions about classification, etiology, diagnosis, and intervention. He first offers an overview of contemporary behavioral genetics, dispels common misconceptions, responds to the criticisms that have been leveled at this new field, and describes in basic terms how genetic and environmental effects are estimated and how susceptibility genes are pinpointed. He then points to new directions in which standard nosological systems are likely to evolve as new information about vulnerabilities and covariances emerges. Finally, he synthesizes and evaluates the consistency of the last decade's findings for the most common categories of psychopathology that have been studied by behavior geneticists: mood, personality, and anxiety disorders, substance abuse; and schizophrenia and the psychotic disorders. Clinicians and researchers alike need to understand the genetic influences on the feelings and behaviors they are seeking to change or study if they are to be effective in their work. The Behavioral Genetics of Psychopathology: A Clinical Guide empowers them with this understanding.
This book provides an illustrative overview of some of the key
methodological and technical innovations that form the cutting edge
of current research in behavioral medicine. |
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