Disease Gene Identification

Disease Gene Identification PDF Author: Johanna K. DiStefano
Publisher: Humana
ISBN: 9781493984961
Category : Medical
Languages : en
Pages : 400

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Book Description
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.

Disease Gene Identification

Disease Gene Identification PDF Author: Johanna K. DiStefano
Publisher: Humana
ISBN: 9781493984961
Category : Medical
Languages : en
Pages : 400

Get Book Here

Book Description
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.

Assessing Genetic Risks

Assessing Genetic Risks PDF Author: Institute of Medicine
Publisher: National Academies Press
ISBN: 0309047986
Category : Medical
Languages : en
Pages : 353

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Book Description
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.

Genomics of Rare Diseases

Genomics of Rare Diseases PDF Author: Claudia Gonzaga-Jauregui
Publisher: Academic Press
ISBN: 0128204362
Category : Medical
Languages : en
Pages : 318

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Book Description
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

Encyclopedia of Basic Epilepsy Research

Encyclopedia of Basic Epilepsy Research PDF Author:
Publisher: Academic Press
ISBN: 0123739616
Category : Medical
Languages : en
Pages : 1853

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Book Description
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

The Genetics of Cancer

The Genetics of Cancer PDF Author: B.A. Ponder
Publisher: Springer Science & Business Media
ISBN: 9401106770
Category : Medical
Languages : en
Pages : 222

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Book Description
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.

Encyclopedia of Distances

Encyclopedia of Distances PDF Author: Michel Marie Deza
Publisher: Springer
ISBN: 3662443422
Category : Mathematics
Languages : en
Pages : 731

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Book Description
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.

Practical Guide to Life Science Databases

Practical Guide to Life Science Databases PDF Author: Imad Abugessaisa
Publisher: Springer Nature
ISBN: 9811658129
Category : Science
Languages : en
Pages : 228

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Book Description
This book provides the latest information of life science databases that center in the life science research and drive the development of the field. It introduces the fundamental principles, rationales and methodologies of creating and updating life science databases. The book brings together expertise and renowned researchers in the field of life science databases and brings their experience and tools at the fingertips of the researcher. The book takes bottom-up approach to explain the structure, content and the usability of life science database. Detailed explanation of the content, structure, query and data retrieval are discussed to provide practical use of life science database and to enable the reader to use database and provided tools in practice. The readers will learn the necessary knowledge about the untapped opportunities available in life science databases and how it could be used so as to advance basic research and applied research findings and transforming them to the benefit of human life. Chapter 2 is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com.

From Neuroscience to Neurology

From Neuroscience to Neurology PDF Author: Stephen Waxman
Publisher: Elsevier
ISBN: 0080506984
Category : Medical
Languages : en
Pages : 549

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Book Description
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

Mapping and Sequencing the Human Genome

Mapping and Sequencing the Human Genome PDF Author: National Research Council
Publisher: National Academies Press
ISBN: 0309038405
Category : Science
Languages : en
Pages : 128

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Book Description
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.

Tumor Microenvironment and Cellular Stress

Tumor Microenvironment and Cellular Stress PDF Author: Constantinos Koumenis
Publisher: Springer Science & Business Media
ISBN: 146145915X
Category : Medical
Languages : en
Pages : 293

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Book Description
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.