Download or read book Disease Gene Identification written by Johanna K. DiStefano and published by Humana. This book was released on 2019-06-06 with total page 400 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume presents detailed laboratory procedures in an easy to follow format that can be carried out with success by investigators lacking previous exposure to a specific research method. Chapter guide readers through the application of molecular approaches to disease gene identification and overviews, and case studies are also presented. 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 practical, Disease Gene Identification: Methods and Protocols, Second Edition aims to help with the identification and characterization of many more disease-related genes and provide novel, and effective strategies for disease treatment and prevention.
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 Genomics of Rare Diseases written by Claudia Gonzaga-Jauregui and published by Academic Press. This book was released on 2021-06-12 with total page 318 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches, a new volume in the Translational and Applied Genomics series, offers readers a broad understanding of current knowledge on rare diseases through a genomics lens. This clear understanding of the latest molecular and genomic technologies used to elucidate the molecular causes of more than 5,000 genetic disorders brings readers closer to unraveling many more that remain undefined and undiscovered. The challenges associated with performing rare disease research are also discussed, as well as the opportunities that the study of these disorders provides for improving our understanding of disease architecture and pathophysiology. Leading chapter authors in the field discuss approaches such as karyotyping and genomic sequencing for the better diagnosis and treatment of conditions including recessive diseases, dominant and X-linked disorders, de novo mutations, sporadic disorders and mosaicism. - Compiles applied case studies and methodologies, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes - Discusses the main challenges in studying the genetics of rare diseases through genomic approaches and possible or ongoing solutions - Explores opportunities for novel therapeutics - Features chapter contributions from leading researchers and clinicians
Download or read book Encyclopedia of Basic Epilepsy Research written by and published by Academic Press. This book was released on 2009-05-27 with total page 1853 pages. Available in PDF, EPUB and Kindle. Book excerpt: As a truly translational area of biomedical investigation, epilepsy research spans an extraordinary breadth of subjects and involves virtually every tool that modern neuroscience has at its disposal. The Encyclopedia of Basic Epilepsy Research provides an up to date, comprehensive reference for all epilepsy researchers. With an expert list of authors, the encyclopedia covers the full spectrum of research activities from genes and molecules to animal models and human patients. The encyclopedia's electronic format also provides unparalleled access to frequent updates and additions, while the limited edition print version provides another option for owning this content. The Encyclopedia of Basic Epilepsy Research is an essential resource for researchers of all levels and clinicians who study epilepsy. The only comprehensive reference for basic research and current activities in epilepsy Electronic format provides fast and easy access to updates and additions, with limited print version available as well Contains over 85 articles, all written by experts in epilepsy research
Download or read book From Neuroscience to Neurology written by Stephen Waxman and published by Elsevier. This book was released on 2004-11-05 with total page 549 pages. Available in PDF, EPUB and Kindle. Book excerpt: The field of neurology is being transformed, from a therapeutically nihilistic discipline with few effective treatments, to a therapeutic specialty which offers new, effective treatments for disorders of the brain and spinal cord. This remarkable transformation has bridged neuroscience, molecular medicine, and clinical investigation, and represents a major triumph for biomedical research. This book, which contains chapters by more than 29 internationally recognized authorities who have made major contributions to neurotherapeutics, tells the stories of how new treatments for disabling disorders of the nervous system, such as stroke, multiple sclerosis, Parkinson's disease, and migraine, were developed, and explores evolving themes and technologies that offer hope for even more effective treatments and ultimately cures for currently untreatable disorders of the brain and spinal cord. The first part of this book reviews the development of new therapies in neurology, from their inception in terms of basic science to their introduction into the clinical world. It also explores evolving themes and new technologies. This book will be of interest to everyone – clinicians and basic scientists alike – interested in diseases of the brain and spinal cord, and in the quest for new treatments for these disorders.* Presents the evolution of the field of neurology into a therapeutic discipline * Discusses lessons learned from past successes and applications to ongoing work* Explores the future of this field
Download or read book Mapping and Sequencing the Human Genome written by National Research Council and published by National Academies Press. This book was released on 1988-01-01 with total page 128 pages. Available in PDF, EPUB and Kindle. Book excerpt: There is growing enthusiasm in the scientific community about the prospect of mapping and sequencing the human genome, a monumental project that will have far-reaching consequences for medicine, biology, technology, and other fields. But how will such an effort be organized and funded? How will we develop the new technologies that are needed? What new legal, social, and ethical questions will be raised? Mapping and Sequencing the Human Genome is a blueprint for this proposed project. The authors offer a highly readable explanation of the technical aspects of genetic mapping and sequencing, and they recommend specific interim and long-range research goals, organizational strategies, and funding levels. They also outline some of the legal and social questions that might arise and urge their early consideration by policymakers.
Download or read book The Genetics of Cancer written by B.A. Ponder and published by Springer. This book was released on 2012-10-14 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: It has been recognized for almost 200 years that certain families seem to inherit cancer. It is only in the past decade, however, that molecular genetics and epidemiology have combined to define the role of inheritance in cancer more clearly, and to identify some of the genes involved. The causative genes can be tracked through cancer-prone families via genetic linkage and positional cloning. Several of the genes discovered have subsequently been proved to play critical roles in normal growth and development. There are also implications for the families themselves in terms of genetic testing with its attendant dilemmas, if it is not clear that useful action will result. The chapters in The Genetics of Cancer illustrate what has already been achieved and take a critical look at the future directions of this research and its potential clinical applications.
Download or read book Understanding Gene Testing written by and published by . This book was released on 1997 with total page 42 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Genes and Autoimmune Diseases written by Marcy Ward and published by . This book was released on 2015-01-26 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Autoimmune disorder is a condition that arises when the immune system of human body attacks and kills healthy body tissue by mistake. A large number of people around the globe are being affected by autoimmune disorders. These are the second most common ca
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 The Gene written by Siddhartha Mukherjee and published by Simon and Schuster. This book was released on 2016-05-17 with total page 624 pages. Available in PDF, EPUB and Kindle. Book excerpt: The #1 NEW YORK TIMES Bestseller The basis for the PBS Ken Burns Documentary The Gene: An Intimate History Now includes an excerpt from Siddhartha Mukherjee’s new book Song of the Cell! From the Pulitzer Prize–winning author of The Emperor of All Maladies—a fascinating history of the gene and “a magisterial account of how human minds have laboriously, ingeniously picked apart what makes us tick” (Elle). “Sid Mukherjee has the uncanny ability to bring together science, history, and the future in a way that is understandable and riveting, guiding us through both time and the mystery of life itself.” —Ken Burns “Dr. Siddhartha Mukherjee dazzled readers with his Pulitzer Prize-winning The Emperor of All Maladies in 2010. That achievement was evidently just a warm-up for his virtuoso performance in The Gene: An Intimate History, in which he braids science, history, and memoir into an epic with all the range and biblical thunder of Paradise Lost” (The New York Times). In this biography Mukherjee brings to life the quest to understand human heredity and its surprising influence on our lives, personalities, identities, fates, and choices. “Mukherjee expresses abstract intellectual ideas through emotional stories…[and] swaddles his medical rigor with rhapsodic tenderness, surprising vulnerability, and occasional flashes of pure poetry” (The Washington Post). Throughout, the story of Mukherjee’s own family—with its tragic and bewildering history of mental illness—reminds us of the questions that hang over our ability to translate the science of genetics from the laboratory to the real world. In riveting and dramatic prose, he describes the centuries of research and experimentation—from Aristotle and Pythagoras to Mendel and Darwin, from Boveri and Morgan to Crick, Watson and Franklin, all the way through the revolutionary twenty-first century innovators who mapped the human genome. “A fascinating and often sobering history of how humans came to understand the roles of genes in making us who we are—and what our manipulation of those genes might mean for our future” (Milwaukee Journal-Sentinel), The Gene is the revelatory and magisterial history of a scientific idea coming to life, the most crucial science of our time, intimately explained by a master. “The Gene is a book we all should read” (USA TODAY).
Download or read book Tumor Microenvironment and Cellular Stress written by Constantinos Koumenis and published by Springer Science & Business Media. This book was released on 2013-11-23 with total page 293 pages. Available in PDF, EPUB and Kindle. Book excerpt: The collection of chapters in this proceeding volume reflects the latest research presented at the Aegean meeting on Tumor Microenvironment and Cellular Stress held in Crete in Fall of 2012. The book provides critical insight to how the tumor microenvironment affects tumor metabolism, cell stemness, cell viability, genomic instability and more. Additional topics include identifying common pathways that are potential candidates for therapeutic intervention, which will stimulate collaboration between groups that are more focused on elucidation of biochemical aspects of stress biology and groups that study the pathophysiological aspects of stress pathways or engaged in drug discovery.
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 Genetics of Mitochondrial Diseases written by Ian James Holt and published by . This book was released on 2023 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This text summarises the advances in human mitochondrial genetics made at the end of the 20th century. Numerous mutations of mitochondrial DNA have been discovered as well as mitochondrial diseases, which have been linked to a number of nuclear gene mutations.
Download or read book In Silico Tools for Gene Discovery written by Bing Yu and published by Humana Press. This book was released on 2011-07-25 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: As functional genomics has become one of the major focuses in molecular biology, the need for more sophisticated tools to assist in the identification of the functionality of undefined genes and the correlation of DNA variants with a particular phenotype has increased greatly. In Silico Tools for Gene Discovery collects many common and useful in silico tools available today. The volume begins by investigating locus mapping information on linkage analysis, association mapping, integrative analysis, and exome analysis as well as tools for DNA marker selection, in silico PCR, and statistical analysis. It continues with a section on gene discovery from a defined locus, including gene prioritization, knowledge tracking, and data mining, and concludes with several useful in silico tools presented for the functional characterization of genes, which include DNA sequencing analysis, variant characterization, as well as RNA and protein analysis. Written in the highly successful Methods in Molecular BiologyTM series format, chapters include introductions to their respective topics, step-by-step, readily reproducible protocols, and vital notes on troubleshooting and avoiding known pitfalls. Resourceful and easy to follow, In Silico Tools for Gene Discovery seeks to facilitate scientists with further key research on locus mapping, to accelerate gene identification, and to help ascertain the functionality of DNA variation.
Download or read book Retinal Degenerative Diseases written by Matthew M. LaVail and published by Springer Science & Business Media. This book was released on 2011-12-21 with total page 867 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book will contain the proceedings of the XIV International Symposium on Retinal Degeneration (RD2010), held July 13-17, 2010, in Mont-Tremblant, Quebec, Canada. The volume will present representative state-of-the-art research in almost all areas of retinal degenerations, ranging from cytopathologic, physiologic, diagnostic and clinical aspects; animal models; mechanisms of cell death; candidate genes, cloning, mapping and other aspects of molecular genetics; and developing potential therapeutic measures such as gene therapy and neuroprotective agents for potential pharmaceutical therapy.
Download or read book Encyclopedia of Distances written by Michel Marie Deza and published by Springer. This book was released on 2014-10-08 with total page 731 pages. Available in PDF, EPUB and Kindle. Book excerpt: This updated and revised third edition of the leading reference volume on distance metrics includes new items from very active research areas in the use of distances and metrics such as geometry, graph theory, probability theory and analysis. Among the new topics included are, for example, polyhedral metric space, nearness matrix problems, distances between belief assignments, distance-related animal settings, diamond-cutting distances, natural units of length, Heidegger’s de-severance distance, and brain distances. The publication of this volume coincides with intensifying research efforts into metric spaces and especially distance design for applications. Accurate metrics have become a crucial goal in computational biology, image analysis, speech recognition and information retrieval. Leaving aside the practical questions that arise during the selection of a ‘good’ distance function, this work focuses on providing the research community with an invaluable comprehensive listing of the main available distances. As well as providing standalone introductions and definitions, the encyclopedia facilitates swift cross-referencing with easily navigable bold-faced textual links to core entries. In addition to distances themselves, the authors have collated numerous fascinating curiosities in their Who’s Who of metrics, including distance-related notions and paradigms that enable applied mathematicians in other sectors to deploy research tools that non-specialists justly view as arcane. In expanding access to these techniques, and in many cases enriching the context of distances themselves, this peerless volume is certain to stimulate fresh research.
