Download and read online Genetics of Complex Human Diseases in PDF and EPUB A handbook explaining suitable study designs, measurement of risk factors, and data reduction in the genetic analysis of human disorders.
Download and read online Approaches to Gene Mapping in Complex Human Diseases in PDF and EPUB Approaches to Gene Mapping in Complex Human Diseases Edited by Jonathan L. Haines and Margaret A. Pericak-Vance Recent years have seen a tremendous growth in statistical and laboratory methods for genetic mapping -a process by which we discover genes that contribute to heart disease, hypertension, diabetes, asthma, cancer, and other complex genetic disorders not controlled by a single gene. Approaches to Gene Mapping in Complex Human Diseases is the first book devoted to the analysis of such common, inherited diseases. This text helps the reader sort through the plethora of available resources, choose the best methodology for a given problem, and design successful gene mapping projects from the ground up. In eighteen chapters, compiled by two of the leading figures in the field, this book covers a wide range of topics -from the process of selecting families to the testing of candidate genes. It provides indispensable information on: * Genetic concepts and statistics pertaining to mapping genetic disease * Issues involved in collecting and handling biological samples and data * Strategies for generating data in the lab * Methods of analysis such as Lod score, Sib-pair, or Affected Relative-Pair * Public databases and mapping resources * Sources of statistical and genetic information, software, and documentation. Approaches to Gene Mapping in Complex Human Diseases clearly explains concepts and design procedures while keeping technical details to a minimum. For geneticists, clinicians, molecular biologists, epidemiologists, and anyone interested in the pursuit of genes, it provides a solid grounding in the fundamentals and facilitates a firm grasp of the most advanced procedures and techniques available.
Download and read online Current Topics in Human Genetics in PDF and EPUB The sequencing of the human genome has brought human genetics into a new era of study resulting in the generation of an explosive amount of information. Application of genomic, proteomic, and bioinformatics technologies to the study of human genetics has made it possible for human genetic diseases to be studied on an unprecedented scale, both in silico and in the wet lab. This volume provides up-to-date coverage of the broad range of research topics in this fascinating area. In the first part of the book, a whole spectrum of approaches to human genetics research is reviewed for both background and the latest progress. In the second, important topics related to genetic research of various complex human diseases are discussed. The robust content and diverse array of subjects allow the book to serve as both a concise ?encyclopedia? that introduces basic and essential concepts of human genetics and an in-depth review of the current understanding of genetic research in human diseases.
Download and read online Genetic Analysis of Complex Disease in PDF and EPUB Second Edition features the latest tools for uncovering the genetic basis of human disease The Second Edition of this landmark publication brings together a team of leading experts in the field to thoroughly update the publication. Readers will discover the tremendous advances made in human genetics in the seven years that have elapsed since the First Edition. Once again, the editors have assembled a comprehensive introduction to the strategies, designs, and methods of analysis for the discovery of genes in common and genetically complex traits. The growing social, legal, and ethical issues surrounding the field are thoroughly examined as well. Rather than focusing on technical details or particular methodologies, the editors take a broader approach that emphasizes concepts and experimental design. Readers familiar with the First Edition will find new and cutting-edge material incorporated into the text: Updated presentations of bioinformatics, multiple comparisons, sample size requirements, parametric linkage analysis, case-control and family-based approaches, and genomic screening New methods for analysis of gene-gene and gene-environment interactions A completely rewritten and updated chapter on determining genetic components of disease New chapters covering molecular genomic approaches such as microarray and SAGE analyses using single nucleotide polymorphism (SNP) and cDNA expression data, as well as quantitative trait loci (QTL) mapping The editors, two of the world's leading genetic epidemiologists, have ensured that each chapter adheres to a consistent and high standard. Each one includes all-new discussion questions and practical examples. Chapter summaries highlight key points, and a list of references for each chapter opens the door to further investigation of specific topics. Molecular biologists, human geneticists, genetic epidemiologists, and clinical and pharmaceutical researchers will find the Second Edition a helpful guide to understanding the genetic basis of human disease, with its new tools for detecting risk factors and discovering treatment strategies.
Download and read online DNA Methylation and Complex Human Disease in PDF and EPUB 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
Download and read online Genetics of Complex Disease in PDF and EPUB Genetics of Complex Disease examines how the identification of genetic variations that increase or reduce the risk of common, genetically complex, diseases can be used to improve our understanding of the pathology of many common diseases; enable better patient management and care; and help with differential diagnosis. It starts with the questions of "what", "why" and "how," and continues with more specific topics such as HLA and immunogenetics, pharmacogenetics, cancer, and diabetes. It finishes with a discussion of ethical issues, and looks to future developments. Genetics of Complex Disease is designed for advanced undergraduate and graduate students in the biomedical sciences and medicine.
Download and read online An Introduction to Human Molecular Genetics in PDF and EPUB An Introduction to Human Molecular Genetics Second Edition Jack J. Pasternak The Second Edition of this internationally acclaimed text expands its coverage of the molecular genetics of inherited human diseases with the latest research findings and discoveries. Using a unique, systems-based approach, the text offers readers a thorough explanation of the gene discovery process and how defective genes are linked to inherited disease states in major organ and tissue systems. All the latest developments in functional genomics, proteomics, and microarray technology have been thoroughly incorporated into the text. The first part of the text introduces readers to the fundamentals of cytogenetics and Mendelian genetics. Next, techniques and strategies for gene manipulation, mapping, and isolation are examined. Readers will particularly appreciate the text's exceptionally thorough and clear explanation of genetic mapping. The final part features unique coverage of the molecular genetics of distinct biological systems, covering muscle, neurological, eye, cancer, and mitochondrial disorders. Throughout the text, helpful figures and diagrams illustrate and clarify complex material. Readers familiar with the first edition will recognize the text's same lucid and engaging style, and will find a wealth of new and expanded material that brings them fully up to date with a current understanding of the field, including: * New chapters on complex genetic disorders, genomic imprinting, and human population genetics * Expanded and fully revised section on clinical genetics, covering diagnostic testing, molecular screening, and various treatments This text is targeted at upper-level undergraduate students, graduate students, and medical students. It is also an excellent reference for researchers and physicians who need a clinically relevant reference for the molecular genetics of inherited human diseases.
Download and read online Genetics of Diabetes Mellitus in PDF and EPUB Genetics of Diabetes Mellitus is intended to be a resource for both researchers in the field as well as endocrinologists, diabetologists, and geneticists who seek to learn more about this rapidly changing and important field. The text contains chapters from experts in the area who review aspects of the genetics of both type 1 and 2 diabetes mellitus as well as various syndromic forms of diabetes. The chapters are approachable for those who are not experts in the field of genetics but also comprehensive, so as to serve as an important resource for researchers interested in the genetics of diabetes mellitus. A description of basic concepts of the genetics of complex diseases like type 1 and type 2 diabetes is provided as background. Type 1 diabetes is addressed in chapters exploring genetic determinants that affect the autoimmune process characteristic of type 1 diabetes, the role of the insulin gene in the pathogenesis of type 1 diabetes and additional genes that may impact upon the risk of type 1 diabetes. The impact of genetic determinants on the pathophysiology of type 2 diabetes is covered, as are chapters that address specific genes that are important for the development of type 2 diabetes. Finally, syndromic forms of diabetes, including Maturity Onset Diabetes of the Young and mitochondrial diabetes, and the insight that these disorders provide into more common forms of diabetes are reviewed. Thus, this comprehensive and up-to-date text will serve as an important resource for those actively engaged in research in this area and clinicians treating these patients to provide an up-to-date entrée for those seeking to become more knowledgeable in the area.
Download and read online Human Polygenic Diseases in PDF and EPUB Human Polygenic Diseases - Animal Modelsdeals with the emerging role of complex genetic factors in the pathogenesis of common diseases. These diseases include hypertension, diabetes, obesity, and cancer, and cause a large fraction of morbidity and death. Complex genetic factors are difficult to study in humans, and this book will give the reader a concise view of the major experimental models of polygenic inheritance of predisposition to diseases. It emphasizes the use of models as tools for understanding the basis of the complex genetics of human diseases. This timely publication can be used as both a reference tool and as a textbook for specialized university courses. It should be of interest to those involved in basic research in animal genetics, molecular genetics, human genetics, and medicine.
Download and read online Analysis of Complex Disease Association Studies in PDF and EPUB According to the National Institute of Health, a genome-wide association study is defined as any study of genetic variation across the entire human genome that is designed to identify genetic associations with observable traits (such as blood pressure or weight), or the presence or absence of a disease or condition. Whole genome information, when combined with clinical and other phenotype data, offers the potential for increased understanding of basic biological processes affecting human health, improvement in the prediction of disease and patient care, and ultimately the realization of the promise of personalized medicine. In addition, rapid advances in understanding the patterns of human genetic variation and maturing high-throughput, cost-effective methods for genotyping are providing powerful research tools for identifying genetic variants that contribute to health and disease. This burgeoning science merges the principles of statistics and genetics studies to make sense of the vast amounts of information available with the mapping of genomes. In order to make the most of the information available, statistical tools must be tailored and translated for the analytical issues which are original to large-scale association studies. Analysis of Complex Disease Association Studies will provide researchers with advanced biological knowledge who are entering the field of genome-wide association studies with the groundwork to apply statistical analysis tools appropriately and effectively. With the use of consistent examples throughout the work, chapters will provide readers with best practice for getting started (design), analyzing, and interpreting data according to their research interests. Frequently used tests will be highlighted and a critical analysis of the advantages and disadvantage complimented by case studies for each will provide readers with the information they need to make the right choice for their research. Additional tools including links to analysis tools, tutorials, and references will be available electronically to ensure the latest information is available. Easy access to key information including advantages and disadvantage of tests for particular applications, identification of databases, languages and their capabilities, data management risks, frequently used tests Extensive list of references including links to tutorial websites Case studies and Tips and Tricks
Download and read online Encyclopedia of Human Genetics and Disease 2 volumes in PDF and EPUB This two-volume encyclopedia examines the history, characteristics, causes, and treatment of genetic disease, as well as the science of genetics itself. • Illustrations and photographs • An informative timeline of genetic study advancements • An annotated list of websites and helpful books
Download and read online A Century of Mendelism in Human Genetics in PDF and EPUB In 1901 William Bateson, Professor of Biology at Cambridge, published a renewed version of a lecture which he had delivered the year before to the Royal Horticultural Society in London (reprinted in the book as an appendix). In this lecture he recognized the importance of the work completed by Gregor Mendel in 1865, and brought it to the notice of the scientific world. Upon reading Bateson's paper, Archibald Garrod realized the relevance of Mendel's laws to human disease and in 1902 introduced Mendelism to medical genetics. The first part of A Century of Mendelism in Human Genetics takes a historical perspective of the first 50 years of Mendelism, including the bitter argument between the Mendelians and the biometricians. The second part discusses human genetics since 1950, ending with a final chapter examining genetics and the future of medicine. The book considers the genetics of both single-gene and complex diseases, human cancer genetics, genetic linkage, and natural selection in human populations. Besides being of general medical significance, this book will be of particular interest to departments of genetics and of medical genetics, as well as to historians of science and medicine.
Download and read online Genetic Dissection of Complex Traits in PDF and EPUB The field of genetics is rapidly evolving and new medical breakthroughs are occuring as a result of advances in knowledge of genetics. This series continually publishes important reviews of the broadest interest to geneticists and their colleagues in affiliated disciplines. * Five sections on the latest advances in complex traits * Methods for testing with ethical, legal, and social implications * Hot topics include discussions on systems biology approach to drug discovery; using comparative genomics for detecting human disease genes; computationally intensive challenges, and more
Download and read online Genome Stability and Human Diseases in PDF and EPUB Since the establishment of the DNA structure researchers have been highly interested in the molecular basis of the inheritance of genes and of genetic disorders. Scientific investigations of the last two decades have shown that, in addition to oncogenic viruses and signalling pathways alterations, genomic instability is important in the development of cancer. This view is supported by the findings that aneuploidy, which results from chromosome instability, is one of the hallmarks of cancer cells. Chromosomal instability also underpins our fundamental principles of understanding tumourigenesis: It thought that cancer arises from the sequential acquisition of genetic alterations in specific genes. In this hypothesis, these rare genetic events represent rate-limiting ‘bottlenecks’ in the clonal evolution of a cancer, and pre-cancerous cells can evolve into neoplastic cells through the acquisition of somatic mutations. This book is written by international leading scientists in the field of genome stability. Chapters are devoted to genome stability and anti-cancer drug targets, histone modifications, chromatin factors, DNA repair, apoptosis and many other key areas of research. The chapters give insights into the newest development of the genome stability and human diseases and bring the current understanding of the mechanisms leading to chromosome instability and their potential for clinical impact to the reader.
Download and read online Between the Lines of Genetic Code in PDF and EPUB Between the Lines of Genetic Code lays out methodologies and tools for the measurement and evaluation of gene-gene and gene-environment studies and gives perspective on the future of this discipline. The book begins by defining terms for interaction studies, describing methodologies, and critically assessing the viability of current study designs and the possibilities for integrating designs. It then provides recent applications data with case studies in rheumatoid arthritis, multiple sclerosis, myositis and other complex human diseases. Last, it examines current studies and directions for future applications in patient care. Recent multivariate studies show that gene-gene and gene-environment interactions can explain significant variances in inheritance that have previously been undetectable in univariate analysis. These links among genes and between genes and their environments during the development of diseases may serve as important hints for understanding pathogenic mechanisms and for developing new tools for prognosis, diagnosis, and treatment of various diseases. Systematically integrates methods of defining and detecting gene interactions to provide an overview of the field Critically analyzes current methods and tools to aid researchers in integrating gene interaction studies Includes examples of current biomedical applications and presents current research expected to shape clinical research in the near future