Download or read book Chromosome Structural Variants Epidemiology Identification and Contribution to Human Diseases written by Zirui Dong and published by Frontiers Media SA. This book was released on 2022-10-19 with total page 125 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Genomic Disorders written by James R. Lupski and published by Springer Science & Business Media. This book was released on 2007-11-10 with total page 419 pages. Available in PDF, EPUB and Kindle. Book excerpt: A grand summary and synthesis of the tremendous amount of data now available in the post genomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to both evolution and to explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variation of the human genome and to model genomic disorders in mice are also presented. Two appendices detail the genomic disorders, providing genomic features at the locus undergoing rearrangement, their clinical features, and frequency of detection.
Download or read book Concepts of Epidemiology written by Raj S. Bhopal and published by Oxford University Press. This book was released on 2016 with total page 481 pages. Available in PDF, EPUB and Kindle. Book excerpt: First edition published in 2002. Second edition published in 2008.
Download or read book Direct to Consumer Genetic Testing written by National Research Council and published by National Academies Press. This book was released on 2011-01-16 with total page 106 pages. Available in PDF, EPUB and Kindle. Book excerpt: Today, scores of companies, primarily in the United States and Europe, are offering whole genome scanning services directly to the public. The proliferation of these companies and the services they offer demonstrate a public appetite for this information and where the future of genetics may be headed; they also demonstrate the need for serious discussion about the regulatory environment, patient privacy, and other policy implications of direct-to-consumer (DTC) genetic testing. Rapid advances in genetic research already have begun to transform clinical practice and our understanding of disease progression. Existing research has revealed a genetic basis or component for numerous diseases, including Parkinson's disease, Alzheimer's disease, diabetes, heart disease, and several forms of cancer. The availability of the human genome sequence and the HapMap, plummeting costs of high-throughput screening, and increasingly sophisticated computational analyses have led to an explosion of discoveries of linkages between patterns of genetic variation and disease susceptibility. While this research is by no means a straight path toward better public health, improved knowledge of the genetic linkages has the potential to change fundamentally the way health professionals and public health practitioners approach the prevention and treatment of disease. Realizing this potential will require greater sophistication in the interpretation of genetic tests, new training for physicians and other diagnosticians, and new approaches to communicating findings to the public. As this rapidly growing field matures, all of these questions require attention from a variety of perspectives. To discuss some of the foregoing issues, several units of the National Academies held a workshop on August 31 and September 1, 2009, to bring together a still-developing community of professionals from a variety of relevant disciplines, to educate the public and policy-makers about this emerging field, and to identify issues for future study. The meeting featured several invited presentations and discussions on the many technical, legal, policy, and ethical questions that such DTC testing raises, including: (1) overview of the current state of knowledge and the future research trajectory; (2) shared genes and emerging issues in privacy; (3) the regulatory framework; and (4) education of the public and the medical community.
Download or read book Genes Behavior and the Social Environment written by Institute of Medicine and published by National Academies Press. This book was released on 2006-11-07 with total page 384 pages. Available in PDF, EPUB and Kindle. Book excerpt: Over the past century, we have made great strides in reducing rates of disease and enhancing people's general health. Public health measures such as sanitation, improved hygiene, and vaccines; reduced hazards in the workplace; new drugs and clinical procedures; and, more recently, a growing understanding of the human genome have each played a role in extending the duration and raising the quality of human life. But research conducted over the past few decades shows us that this progress, much of which was based on investigating one causative factor at a time—often, through a single discipline or by a narrow range of practitioners—can only go so far. Genes, Behavior, and the Social Environment examines a number of well-described gene-environment interactions, reviews the state of the science in researching such interactions, and recommends priorities not only for research itself but also for its workforce, resource, and infrastructural needs.
Download or read book Genetics and Evolution of Infectious Diseases written by Michel Tibayrenc and published by Elsevier. This book was released on 2024-07-19 with total page 1002 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetics and Evolution of Infectious Diseases, Third Edition discusses the evolving field of infectious diseases and their continued impact on the health of populations, especially in resource-limited areas of the world where they must confront the dual burden of death and disability due to infectious and chronic illnesses. Although substantial gains have been made in public health interventions for the treatment, prevention, and control of infectious diseases, in recent decades the world has witnessed the emergence of the human immunodeficiency virus (HIV) and the COVID-19 pandemic, increasing antimicrobial resistance, and the emergence of many new bacterial, fungal, parasitic, and viral pathogens. Fully updated and revised, this new edition presents the consequences of such diseases, the evolution of infectious diseases, the genetics of host-pathogen relationship, and the control and prevention strategies that are, or can be, developed. This book offers valuable information to biomedical researchers, clinicians, public health practitioners, decisions-makers, and students and postgraduates studying infectious diseases, microbiology, medicine, and public health that is relevant to the control and prevention of neglected and emerging worldwide diseases. - Takes an integrated approach to infectious diseases - Provides the latest developments in the field of infectious diseases - Focuses on the contribution of evolutionary and genomic studies for the study and control of transmissible diseases - Includes updated and revised contributions from leading authorities, along with six new chapters
Download or read book Principles of Psychiatric Genetics written by John I. Nurnberger and published by Cambridge University Press. This book was released on 2012-09-13 with total page 415 pages. Available in PDF, EPUB and Kindle. Book excerpt: A comprehensive, up-to-date resource providing information about genetic influences on disorders of behavior.
Download or read book Jasper s Basic Mechanisms of the Epilepsies written by Jeffrey Noebels and published by OUP USA. This book was released on 2012-06-29 with total page 1258 pages. Available in PDF, EPUB and Kindle. Book excerpt: Jasper's Basic Mechanisms, Fourth Edition, is the newest most ambitious and now clinically relevant publishing project to build on the four-decade legacy of the Jasper's series. In keeping with the original goal of searching for "a better understanding of the epilepsies and rational methods of prevention and treatment.", the book represents an encyclopedic compendium neurobiological mechanisms of seizures, epileptogenesis, epilepsy genetics and comordid conditions. Of practical importance to the clinician, and new to this edition are disease mechanisms of genetic epilepsies and therapeutic approaches, ranging from novel antiepileptic drug targets to cell and gene therapies.
Download or read book Assessing Genetic Risks written by Institute of Medicine and published by National Academies Press. This book was released on 1994-01-01 with total page 353 pages. Available in PDF, EPUB and Kindle. Book excerpt: Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings.
Download or read book Molecular Epidemiology written by Paul A. Schulte and published by Academic Press. This book was released on 2012-12-02 with total page 609 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book will serve as a primer for both laboratory and field scientists who are shaping the emerging field of molecular epidemiology. Molecular epidemiology utilizes the same paradigm as traditional epidemiology but uses biological markers to identify exposure, disease or susceptibility. Schulte and Perera present the epidemiologic methods pertinent to biological markers. The book is also designed to enumerate the considerations necessary for valid field research and provide a resource on the salient and subtle features of biological indicators.
Download or read book Applied Bioinformatics written by Paul Maria Selzer and published by Springer Science & Business Media. This book was released on 2008-01-18 with total page 297 pages. Available in PDF, EPUB and Kindle. Book excerpt: At last, here is a baseline book for anyone who is confused by cryptic computer programs, algorithms and formulae, but wants to learn about applied bioinformatics. Now, anyone who can operate a PC, standard software and the internet can also learn to understand the biological basis of bioinformatics, of the existence as well as the source and availability of bioinformatics software, and how to apply these tools and interpret results with confidence. This process is aided by chapters that introduce important aspects of bioinformatics, detailed bioinformatics exercises (including solutions), and to cap it all, a glossary of definitions and terminology relating to bioinformatics.
Download or read book Applied Genomics and Public Health written by George P. Patrinos and published by Academic Press. This book was released on 2019-11-13 with total page 406 pages. Available in PDF, EPUB and Kindle. Book excerpt: Applied Genomics and Public Health examines the interdisciplinary and growing area of how evidence-based genomic knowledge can be applied to public health, population health, healthcare and health policies. The book gathers experts from a variety of disciplines, including life sciences, social sciences, and health care to develop a comprehensive overview of the field. In addition, the book delves into subjects such as pharmacogenomics, genethics, big data, data translation and analysis, economic evaluation, genomic awareness and education, sociology, pricing and reimbursement, policy measures and economic evaluation in genomic medicine. This book is essential reading for researchers and students exploring applications of genomics to population and public health. In addition, it is ideal for those in the biomedical sciences, medical sociologists, healthcare professionals, nurses, regulatory bodies and health economists interested in learning more about this growing field. - Explores the growing application of genomics to population and public health - Features internationally renowned contributors from a variety of related fields - Contains chapters on important topics such as genomic data sharing, genethics and public health genomics, genomics and sociology, and regulatory aspects of genomic medicine and pharmacogenomics
Download or read book The Chromosome 22q11 2 Deletion Syndrome written by Donna M. McDonald-McGinn and published by Academic Press. This book was released on 2022-08-19 with total page 526 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Chromosome 22q11.2 Deletion Syndrome: A Multidisciplinary Approach to Diagnosis and Treatment serves as the first comprehensive, user-friendly resource on the etiology, prognosis, and recurrence risk associated with the chromosome 22q11.2 deletion syndrome. Leading international contributors cover the background, genetics, testing methods, and pathophysiology of 22q11.2DS, placing emphasis on a strong foundation for multidisciplinary treatment strategies. Written by specialists in every applicable subspecialty, such as, cardiology, immunology, endocrinology, gastroenterology, hematology, ophthalmology, neurology, and psychiatry, among other fields. This book presents an authoritative resource with full color images that enhance concept illustration and aid in real-time decision-making. As 22q11.2 deletion syndrome has become a model for understanding rare and frequent anomalies, numerous medical issues, cognitive and behavioral phenotypes, and later onset conditions, this text will become the go to resource for clinicians, researchers, trainees, and motivated family members, in gaining a full understanding of this complex chromosomal disorder. - Provides a complete description of 22q11.2 deletion syndrome for healthcare professionals, researchers, trainees, and families affected by this common condition - Presents diagnostic and treatment strategies to help tackle this complex and often undiagnosed and therefore undertreated condition - Covered in a user-friendly, practical format that emphasizes evidence-based evaluation and treatment derived from the latest clinical experience and research in the field - Features leading international contributors in numerous sub-specialties, representing the multisystem nature of this condition - Includes full color figures, flow charts, tables, and patient images to guide real-time decision-making
Download or read book Gardner and Sutherland s Chromosome Abnormalities and Genetic Counseling written by R. J. McKinlay Gardner and published by Oxford University Press. This book was released on 2018 with total page 729 pages. Available in PDF, EPUB and Kindle. Book excerpt: Even as classic cytogenetics has given way to molecular karyotyping, and as new deletion and duplication syndromes are identified almost every day, the fundamental role of the genetics clinic remains mostly unchanged. Genetic counselors and medical geneticists explain the "unexplainable," helping families understand why abnormalities occur and whether they're likely to occur again. Chromosome Abnormalities and Genetic Counseling is the genetics professional's definitive guide to navigating both chromosome disorders and the clinical questions of the families they impact. Combining a primer on these disorders with the most current approach to their best clinical approaches, this classic text is more than just a reference; it is a guide to how to think about these disorders, even as our technical understanding of them continues to evolve. Completely updated and still infused with the warmth and voice that have made it essential reading for professionals across medical genetics, this edition of Chromosome Abnormalities and Genetic Counseling represents a leap forward in clinical understanding and communication. It is, as ever, essential reading for the field.
Download or read book The Metabolic Molecular Bases of Inherited Disease written by Charles R. Scriver and published by New York ; Montreal : McGraw-Hill. This book was released on 2001 with total page 6338 pages. Available in PDF, EPUB and Kindle. Book excerpt: Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.
Download or read book Hypermobility Fibromyalgia and Chronic Pain written by Alan J Hakim and published by Elsevier Health Sciences. This book was released on 2010-09-15 with total page 333 pages. Available in PDF, EPUB and Kindle. Book excerpt: This groundbreaking new text explains and documents the scientific basis of chronic pain in Joint Hypermobility Syndrome (JHS) and other heritable disorders of connective tissue from the physiological, epidemiological, genetic and clinical viewpoints. It asks the reader to consider the possibility of JHS, identify it clinically, understand its co-morbidities, including interdependencies with Fibromyalgia and Chronic Fatigue Syndrome, while managing the condition appropriately. Hypermobility, Fibromyalgia and Chronic Pain takes a multi-specialty and multidisciplinary approach to understanding JHS and its management, drawing together expertise from a broad group of internationally-recognized authors. The book is split into two sections. Section 1 deals with the clinical manifestations of JHS and Fibromyalgia, their epidemiology and pathophysiology. Section 2 covers clinical management. Here the reader will find chapters covering pharmacotherapeutics, psychotherapy and physical therapies that address the needs of patients from childhood to adulthood. It is hoped that Hypermobility, Fibromyalgia and Chronic Pain will advance knowledge of therapies and provoke further research while stimulating interest and encouraging debate. - Comprehensively relates practical therapy to the nature of the underlying pathology - Covers in one single text both the scientific and practical management aspect of Joint Hypermobility Syndrome and its allied pathologies - Contributions from over 30 leading international experts - Multidisciplinary approach will support all health professionals working in this field
Download or read book MRCOG Part One written by Alison Fiander and published by Cambridge University Press. This book was released on 2016-10-13 with total page 557 pages. Available in PDF, EPUB and Kindle. Book excerpt: A fully updated and illustrated handbook providing comprehensive coverage of all curriculum areas covered by the MRCOG Part 1 examination.
