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Disease Gene Identification
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Book Synopsis Disease Gene Identification by : Johanna K. DiStefano
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.
Book Synopsis Disease Gene Identification by : Johanna K. DiStefano
Download or read book Disease Gene Identification written by Johanna K. DiStefano and published by Humana Press. This book was released on 2011-04-06 with total page 312 pages. Available in PDF, EPUB and Kindle. Book excerpt: Recent efforts to characterize genetic variation in the human genome, coupled with the rapidly developing field of genomics, have lead directly to the development of new and innovative approaches to the identification of genes contributing to complex human diseases. In Disease Gene Identification: Methods and Protocols, expert researchers in the field provide up-to-date molecular methodologies used in the process of identifying a disease gene, from the initial stage of study design to the next stage of preliminary locus identification, and ending with stages involved in target characterization and validation. As a volume in the highly successful Methods in Molecular BiologyTM series, chapters contain brief introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and detailed tips on troubleshooting and avoiding known pitfalls. Authoritative and essential, Disease Gene Identification: Methods and Protocols seeks to aid scientists striving toward the identification and characterization of the many disease-related genes, which may someday pave the way for more accurate and improved methods of disease diagnosis as well as vital strategies for disease treatment and prevention.
Book Synopsis Mapping and Sequencing the Human Genome by : National Research Council
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.
Book Synopsis Assessing Genetic Risks by : Institute of Medicine
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.
Book Synopsis Molecular Biology of The Cell by : Bruce Alberts
Download or read book Molecular Biology of The Cell written by Bruce Alberts and published by . This book was released on 2002 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Genomics of Rare Diseases by : Claudia Gonzaga-Jauregui
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 316 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
Book Synopsis Encyclopedia of Basic Epilepsy Research by :
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
Book Synopsis Understanding Racial and Ethnic Differences in Health in Late Life by : National Research Council
Download or read book Understanding Racial and Ethnic Differences in Health in Late Life written by National Research Council and published by National Academies Press. This book was released on 2004-09-08 with total page 184 pages. Available in PDF, EPUB and Kindle. Book excerpt: As the population of older Americans grows, it is becoming more racially and ethnically diverse. Differences in health by racial and ethnic status could be increasingly consequential for health policy and programs. Such differences are not simply a matter of education or ability to pay for health care. For instance, Asian Americans and Hispanics appear to be in better health, on a number of indicators, than White Americans, despite, on average, lower socioeconomic status. The reasons are complex, including possible roles for such factors as selective migration, risk behaviors, exposure to various stressors, patient attitudes, and geographic variation in health care. This volume, produced by a multidisciplinary panel, considers such possible explanations for racial and ethnic health differentials within an integrated framework. It provides a concise summary of available research and lays out a research agenda to address the many uncertainties in current knowledge. It recommends, for instance, looking at health differentials across the life course and deciphering the links between factors presumably producing differentials and biopsychosocial mechanisms that lead to impaired health.
Book Synopsis Genes, Behavior, and the Social Environment by : Institute of Medicine
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 2006-12-07 with total page 385 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.
Book Synopsis From Gene to Therapy by : Michael Dean
Download or read book From Gene to Therapy written by Michael Dean and published by Biota Publishing. This book was released on 2017-09-13 with total page 104 pages. Available in PDF, EPUB and Kindle. Book excerpt: Lecture provides an overview of the progress made in molecular medicine applying genetics and genomics to the understanding, diagnosis, and treatment of human diseases. Specifically, the methods for identifying genes involved in human diseases are described. Examples from 10 genes and diseases will be provided, drawing on the author's research. Topics include examples from simple Mendelian diseases, such as cystic fibrosis, inherited cancers, oncogenes activated by chromosomal translocations, host genes involved in infectious disease, genes identified via genomewide association studies, pathogens causing cancer, and gene families contributing to multiple diseases. For each example, historical details will be provided as background for readers to understand the context and process of the discoveries, technologies explained, and current understanding and treatment implications detailed.
Book Synopsis The Genetics of Cancer by : B.A. Ponder
Download or read book The Genetics of Cancer written by B.A. Ponder and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 222 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 Human Prion Diseases written by and published by Elsevier. This book was released on 2018-06-07 with total page 512 pages. Available in PDF, EPUB and Kindle. Book excerpt: Human Prion Diseases, Volume 153 is designed to update the reader on the latest advances and clinical aspects of prion diseases. The book is organized into five sections, including the pathophysiology of prions and a description of animal and human diseases. This is followed by detailed reports on recent advances in diagnosis strategies for the development of novel anti-prion molecules and possible designs of clinical trials in such a rare disease. An introductory chapter gives an extensive historical background of prion research, with a final chapter highlighting recent progress, and more importantly, unsolved problems. Offers an authoritative overview of prion diseases in humans, detailing the pathogenesis of the disease, clinical investigations, and the diagnosis of both the genetic and acquired forms Provides clarity and context by presenting prion diseases in relation to other neurodegenerative diseases in humans Emphasizes the unique properties of prion diseases and consequent problems they can cause, both clinically and in public health terms
Book Synopsis From Neuroscience to Neurology by : Stephen Waxman
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 552 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 Understanding Gene Testing written by and published by . This book was released on 1995 with total page 42 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book The Mucopolysaccharidoses written by and published by . This book was released on 2003 with total page 20 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Peroxisomal Disorders and Regulation of Genes by : Frank Roels
Download or read book Peroxisomal Disorders and Regulation of Genes written by Frank Roels and published by Springer. This book was released on 2012-10-13 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: In most peroxisomal disorders the nervous system is severely affected which explains the clinical and community burden they represent. This is the first book to focus not only on the mutations causing these inherited illnesses, but also on mechanisms that regulate, suppress or enhance expression of genes and their products (enzymes). Indeed since the success and completion of the Human Genome Project all genes (coding DNA sequences) are known. However, of many, their function, and the role of the gene product has not been determined. An example is X-linked adrenoleukodystrophy, the most frequent peroxisomal disorder. Children are born healthy, but in more than 1 out of 3, demyelination of the brain starts unpredictably and they die in a vegetative state. The gene mutated in most families has been known for 10 years; but the true role of the encoded protein, ALDp, is still speculative; and within the same family, very severe and asymptomatic clinical histories co-exist, unexplained by the mutation.
Book Synopsis RNA Mapping by : M. Lucrecia Alvarez
Download or read book RNA Mapping written by M. Lucrecia Alvarez and published by Humana Press. This book was released on 2014-07-24 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: In RNA Mapping- Methods and Protocols expert researchers in the field detail many of the methods which are now commonly used to study RNA. These include protocols for the consequence of the emerging interest in the characterization of cellular RNAs urged by their potential use as diagnostic biomarkers or therapeutic targets. In particular, the biological relevance of microRNAs in human physiology and disease development is highlighted in the 16 chapters focused on methods for their physical and functional mapping. 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 key tips on troubleshooting and avoiding known pitfalls. Authoritative and practical, RNA Mapping- Methods and Protocols provides instruction and inspiration for scientists who are facing the challenges of the discovery and/or functional characterization of RNA molecules for a wide variety of applications ranging from novel biomedical diagnostics to therapeutics and biomaterials.
