Genomics Of Disease

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Genomics

Hans C. Andersson, MD,Whitney Stewart
Genomics Book PDF

Author : Hans C. Andersson, MD,Whitney Stewart
Publisher : Millbrook Press
Page : 139 pages
File Size : 42,6 Mb
Release : 2020-09-01
Category : Young Adult Nonfiction
ISBN : 9781728411583

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Genomics by Hans C. Andersson, MD,Whitney Stewart Pdf

Over the past 50 years, scientists have made incredible progress in the application of genetic research to human health care and disease treatment. Innovative tools and techniques, including gene therapy and CRISPR-Cas9 editing, can treat inherited disorders that were previously untreatable, or prevent them from happening in the first place. You can take a DNA test to learn where your ancestors are from. Police officers can use genetic evidence to identify criminals—or innocents. And some doctors are using new medical techniques for unprecedented procedures. Genomics: A Revolution in Health and Disease Discovery delves into the history, science, and ethics behind recent breakthroughs in genetic research. Authors Whitney Stewart and Hans Andersson, MD, present fascinating case studies that show how real people have benefitted from genetic research. Though the genome remains full of mysteries, researchers and doctors are working hard to uncover its secrets and find the best ways to treat patients and cure diseases. The discoveries to come will inform how we target disease treatment, how we understand our health, and how we define our very identities.

Genomics of Rare Diseases

Claudia Gonzaga-Jauregui,James R. Lupski
Genomics of Rare Diseases Book PDF

Author : Claudia Gonzaga-Jauregui,James R. Lupski
Publisher : Academic Press
Page : 316 pages
File Size : 54,9 Mb
Release : 2021-06-12
Category : Medical
ISBN : 9780128204368

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Genomics of Rare Diseases by Claudia Gonzaga-Jauregui,James R. Lupski Pdf

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

Genetics and Genomics of Eye Disease

Xiaoyi Raymond Gao
Genetics and Genomics of Eye Disease Book PDF

Author : Xiaoyi Raymond Gao
Publisher : Academic Press
Page : 383 pages
File Size : 49,9 Mb
Release : 2019-09-12
Category : Science
ISBN : 9780128167274

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Genetics and Genomics of Eye Disease by Xiaoyi Raymond Gao Pdf

Genetics and Genomics of Eye Disease: Advancing to Precision Medicine thoroughly examines the latest genomics methods for studying eye disease, including complex eye disorders associated with multiple genes. GWAS, WES, WGS, RNA-sequencing, and transcriptome analysis as employed in ocular genomics are discussed in-depth, as are genomics findings tied to early-onset glaucoma, strabismus, age-related macular degeneration, adult-onset glaucoma, diabetic retinopathy, keratoconus, and leber congenital amaurosis, among other diseases. Research and clinical specialists offer guidance on conducting preventative screenings and counseling patients, as well as the promise of machine learning, computational statistics and artificial intelligence in advancing ocular genomics research. Offers thorough guidance on conducting genetic and genomic studies of eye disease Examines the genetic basis of a wide range of complex eye diseases and single-gene and Mendelian disorders Discusses the application of genetic testing and genetic risk prediction in eye disease diagnosis and patient counseling

Medical and Health Genomics

Dhavendra Kumar,Stylianos Antonarakis
Medical and Health Genomics Book PDF

Author : Dhavendra Kumar,Stylianos Antonarakis
Publisher : Academic Press
Page : 358 pages
File Size : 40,6 Mb
Release : 2016-06-04
Category : Science
ISBN : 9780127999227

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Medical and Health Genomics by Dhavendra Kumar,Stylianos Antonarakis Pdf

Medical and Health Genomics provides concise and evidence-based technical and practical information on the applied and translational aspects of genome sciences and the technologies related to non-clinical medicine and public health. Coverage is based on evolving paradigms of genomic medicine—in particular, the relation to public and population health genomics now being rapidly incorporated in health management and administration, with further implications for clinical population and disease management. Provides extensive coverage of the emergent field of health genomics and its huge relevance to healthcare management Presents user-friendly language accompanied by explanatory diagrams, figures, and many references for further study Covers the applied, but non-clinical, sciences across disease discovery, genetic analysis, genetic screening, and prevention and management Details the impact of clinical genomics across a diverse array of public and community health issues, and within a variety of global healthcare systems

Heritable Human Genome Editing

The Royal Society,National Academy of Sciences,National Academy of Medicine,International Commission on the Clinical Use of Human Germline Genome Editing
Heritable Human Genome Editing Book PDF

Author : The Royal Society,National Academy of Sciences,National Academy of Medicine,International Commission on the Clinical Use of Human Germline Genome Editing
Publisher : National Academies Press
Page : 239 pages
File Size : 40,6 Mb
Release : 2021-01-16
Category : Medical
ISBN : 9780309671132

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Heritable Human Genome Editing by The Royal Society,National Academy of Sciences,National Academy of Medicine,International Commission on the Clinical Use of Human Germline Genome Editing Pdf

Heritable human genome editing - making changes to the genetic material of eggs, sperm, or any cells that lead to their development, including the cells of early embryos, and establishing a pregnancy - raises not only scientific and medical considerations but also a host of ethical, moral, and societal issues. Human embryos whose genomes have been edited should not be used to create a pregnancy until it is established that precise genomic changes can be made reliably and without introducing undesired changes - criteria that have not yet been met, says Heritable Human Genome Editing. From an international commission of the U.S. National Academy of Medicine, U.S. National Academy of Sciences, and the U.K.'s Royal Society, the report considers potential benefits, harms, and uncertainties associated with genome editing technologies and defines a translational pathway from rigorous preclinical research to initial clinical uses, should a country decide to permit such uses. The report specifies stringent preclinical and clinical requirements for establishing safety and efficacy, and for undertaking long-term monitoring of outcomes. Extensive national and international dialogue is needed before any country decides whether to permit clinical use of this technology, according to the report, which identifies essential elements of national and international scientific governance and oversight.

Genomic and Precision Medicine

Geoffrey S. Ginsburg,Huntington F Willard,John Strickler,Matthew Stuart McKinney
Genomic and Precision Medicine Book PDF

Author : Geoffrey S. Ginsburg,Huntington F Willard,John Strickler,Matthew Stuart McKinney
Publisher : Academic Press
Page : 379 pages
File Size : 51,6 Mb
Release : 2022-04-09
Category : Science
ISBN : 9780128006535

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Genomic and Precision Medicine by Geoffrey S. Ginsburg,Huntington F Willard,John Strickler,Matthew Stuart McKinney Pdf

Genomic and Precision Medicine: Oncology, Third Edition focuses on the applications of genome discovery as research points to personalized cancer therapies. Each chapter is organized to cover the application of genomics and personalized medicine tools and technologies to a) Risk Assessment and Susceptibility, b) Diagnosis and Prognosis, c) Pharmacogenomics and Precision Therapeutics, and d) Emerging and Future Opportunities in the field. Provides a comprehensive volume written and edited by oncology genomic specialists for oncology health providers Includes succinct commentary and key learning points that will assist providers with their local needs for implementation of genomic and personalized medicine into practice Presents an up-to-date overview on major opportunities for genomic and personalized medicine in practice Covers case studies that highlight the practical use of genomics in the management of patients

Genes, Behavior, and the Social Environment

Institute of Medicine,Board on Health Sciences Policy,Committee on Assessing Interactions Among Social, Behavioral, and Genetic Factors in Health
Genes Behavior and the Social Environment Book PDF

Author : Institute of Medicine,Board on Health Sciences Policy,Committee on Assessing Interactions Among Social, Behavioral, and Genetic Factors in Health
Publisher : National Academies Press
Page : 385 pages
File Size : 43,8 Mb
Release : 2006-12-07
Category : Social Science
ISBN : 9780309101967

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Genes, Behavior, and the Social Environment by Institute of Medicine,Board on Health Sciences Policy,Committee on Assessing Interactions Among Social, Behavioral, and Genetic Factors in Health Pdf

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.

The Human Genome in Health and Disease

Tore Samuelsson
The Human Genome in Health and Disease Book PDF

Author : Tore Samuelsson
Publisher : Garland Science
Page : 543 pages
File Size : 52,7 Mb
Release : 2019-02-07
Category : Medical
ISBN : 9780429664298

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The Human Genome in Health and Disease by Tore Samuelsson Pdf

The human genome is a linear sequence of roughly 3 billion bases and information regarding this genome is accumulating at an astonishing rate. Inspired by these advances, The Human Genome in Health and Disease: A Story of Four Letters explores the intimate link between sequence information and biological function. A range of sequence-based functional units of the genome are discussed and illustrated with inherited disorders and cancer. In addition, the book considers valuable medical applications related to human genome sequencing, such as gene therapy methods and the identification of causative mutations in rare genetic disorders. The primary audiences of the book are students of genetics, biology, medicine, molecular biology and bioinformatics. Richly illustrated with review questions provided for each chapter, the book helps students without previous studies of genetics and molecular biology. It may also be of benefit for advanced non-academics, which in the era of personal genomics, want to learn more about their genome. Key selling features: Molecular sequence perspective, explaining the relationship between DNA sequence motifs and biological function Aids in understanding the functional impact of mutations and genetic variants Material presented at basic level, making it accessible to students without previous studies of genetics and molecular biology Richly illustrated with questions provided to each chapter

The Genetics of African Populations in Health and Disease

Muntaser E. Ibrahim,Charles N. Rotimi
The Genetics of African Populations in Health and Disease Book PDF

Author : Muntaser E. Ibrahim,Charles N. Rotimi
Publisher : Cambridge University Press
Page : 351 pages
File Size : 53,5 Mb
Release : 2019-12-19
Category : History
ISBN : 9781107072022

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The Genetics of African Populations in Health and Disease by Muntaser E. Ibrahim,Charles N. Rotimi Pdf

A pioneering work that focuses on the unique diversity of African genetics, offering insights into human biology and genetic approaches.

Computational Genetics and Genomics

Gary Peltz
Computational Genetics and Genomics Book PDF

Author : Gary Peltz
Publisher : Springer Science & Business Media
Page : 309 pages
File Size : 49,5 Mb
Release : 2007-11-05
Category : Medical
ISBN : 9781592599301

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Computational Genetics and Genomics by Gary Peltz Pdf

Ultimately, the quality of the tools available for genetic analysis and experimental disease models will be assessed on the basis of whether they provide new information that generates novel treatments for human disease. In addition, the time frame in which genetic discoveries impact clinical practice is also an important dimension of how society assesses the results of the significant public financial investment in genetic research. Because of the investment and the increased expectation that new tre- ments will be found for common diseases, allowing decades to pass before basic discoveries are made and translated into new therapies is no longer acceptable. Computational Genetics and Genomics: Tools for Understanding Disease provides an overview and assessment of currently available and developing tools for genetic analysis. It is hoped that these new tools can be used to identify the genetic basis for susceptibility to disease. Although this very broad topic is addressed in many other books and journal articles, Computational Genetics and Genomics: Tools for Understanding Disease focuses on methods used for analyzing mouse genetic models of biomedically - portant traits. This volume aims to demonstrate that commonly used inbred mouse strains can be used to model virtually all human disea- related traits. Importantly, recently developed computational tools will enable the genetic basis for differences in disease-related traits to be rapidly identified using these inbred mouse strains. On average, a decade is required to carry out the development process required to demonstrate that a new disease treatment is beneficial.

Genetics and Evolution of Infectious Diseases

Michel Tibayrenc
Genetics and Evolution of Infectious Diseases Book PDF

Author : Michel Tibayrenc
Publisher : Elsevier
Page : 773 pages
File Size : 49,5 Mb
Release : 2010-12-17
Category : Medical
ISBN : 9780123848901

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Genetics and Evolution of Infectious Diseases by Michel Tibayrenc Pdf

Genetics and Evolution of Infectious Diseases is at the crossroads between two major scientific fields of the 21st century: evolutionary biology and infectious diseases. The genomic revolution has upset modern biology and has revolutionized our approach to ancient disciplines such as evolutionary studies. In particular, this revolution is profoundly changing our view on genetically driven human phenotypic diversity, and this is especially true in disease genetic susceptibility. Infectious diseases are indisputably the major challenge of medicine. When looking globally, they are the number one killer of humans and therefore the main selective pressure exerted on our species. Even in industrial countries, infectious diseases are now far less under control than 20 years ago. The first part of this book covers the main features and applications of modern technologies in the study of infectious diseases. The second part provides detailed information on a number of the key infectious diseases such as malaria, SARS, avian flu, HIV, tuberculosis, nosocomial infections and a few other pathogens that will be taken as examples to illustrate the power of modern technologies and the value of evolutionary approaches. Takes an integrated approach to infectious diseases Includes contributions from leading authorities Provides the latest developments in the field

Genomics of Disease

J.P. Gustafson,J. Tayler,G. Stacey
Genomics of Disease Book PDF

Author : J.P. Gustafson,J. Tayler,G. Stacey
Publisher : Springer Science & Business Media
Page : 232 pages
File Size : 47,5 Mb
Release : 2008-02-12
Category : Medical
ISBN : 9780387767239

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Genomics of Disease by J.P. Gustafson,J. Tayler,G. Stacey Pdf

This title develops from the 24th Stadler symposium. It explores the general theme "GENOME EXPLOITATION: Data Mining the Genomes". The idea behind the theme is to discuss and illustrate how scientists are going to characterize and make use of the massive amount of information being accumulated about plant and animal genomes. The book presents a state-of-the-art picture on mining the Genome databases. Its chapters are authored by key stars in the field.

Implications of Genomics for Public Health

Institute of Medicine,Board on Health Promotion and Disease Prevention,Committee on Genomics and the Public's Health in the 21st Century
Implications of Genomics for Public Health Book PDF

Author : Institute of Medicine,Board on Health Promotion and Disease Prevention,Committee on Genomics and the Public's Health in the 21st Century
Publisher : National Academies Press
Page : 98 pages
File Size : 40,5 Mb
Release : 2005-07-27
Category : Medical
ISBN : 9780309096072

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Implications of Genomics for Public Health by Institute of Medicine,Board on Health Promotion and Disease Prevention,Committee on Genomics and the Public's Health in the 21st Century Pdf

Genomics is the study of the entire human genome. Genomics explores not only the actions of single genes, but also the interactions of multiple genes with each other and with the environment. As a result, genomics has great potential for improving the health of the public. However, realizing the benefits of genomics requires a systematic evaluation of its potential contributions and an understanding of the information necessary to facilitate the translation of research findings into public health strategies. In October 2004, the Institute of Medicine convened a workshop to discuss major scientific and policy issues related to genomics and public health, examine major supports for and challenges to the translation of genetic research into population health benefits, and suggest approaches for the integration of genomic information into strategies for promoting health and preventing disease. Implications of Genomics for Public Health summarizes the discussions and presentations from this workshop.

Human Genome Epidemiology, 2nd Edition

Muin Khoury,Sara Bedrosian,Marta Gwinn,Julian Higgins,John Ioannidis,Julian Little
Human Genome Epidemiology 2nd Edition Book PDF

Author : Muin Khoury,Sara Bedrosian,Marta Gwinn,Julian Higgins,John Ioannidis,Julian Little
Publisher : Oxford University Press
Page : 704 pages
File Size : 42,9 Mb
Release : 2010-01-20
Category : Medical
ISBN : 0199749345

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Human Genome Epidemiology, 2nd Edition by Muin Khoury,Sara Bedrosian,Marta Gwinn,Julian Higgins,John Ioannidis,Julian Little Pdf

The first edition of Human Genome Epidemiology, published in 2004, discussed how the epidemiologic approach provides an important scientific foundation for studying the continuum from gene discovery to the development, applications and evaluation of human genome information in improving health and preventing disease. Since that time, advances in human genomics have continued to occur at a breathtaking pace. With contributions from leaders in the field from around the world, this new edition is a fully updated look at the ways in which genetic factors in common diseases are studied. Methodologic developments in collection, analysis and synthesis of data, as well as issues surrounding specific applications of human genomic information for medicine and public health are all discussed. In addition, the book focuses on practical applications of human genome variation in clinical practice and disease prevention. Students, clinicians, public health professionals and policy makers will find the book a useful tool for understanding the rapidly evolving methods of the discovery and use of genetic information in medicine and public health in the 21st century.

Genomic and Precision Medicine

Geoffrey S. Ginsburg,Huntington F Willard
Genomic and Precision Medicine Book PDF

Author : Geoffrey S. Ginsburg,Huntington F Willard
Publisher : Academic Press
Page : 336 pages
File Size : 55,6 Mb
Release : 2017-11-17
Category : Science
ISBN : 9780128018255

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Genomic and Precision Medicine by Geoffrey S. Ginsburg,Huntington F Willard Pdf

Genomic and Precision Medicine: Cardiovascular Disease, Third Edition, focuses on the applications of genome discovery on the broad spectrum of cardiovascular disorders. Each chapter is organized for the application of genomics and personalized medicine tools and technologies to a) Risk Assessment and Susceptibility, b) Diagnosis and Prognosis, c) Pharmacogenomics and Precision Therapeutics, and d) Emerging and Future Opportunities in the field. Presents a comprehensive volume written and edited by cardiovascular genomic specialists Covers succinct commentary and key learning points that will assist providers with their local needs for the implementation of genomic and personalized medicine into practice Provides an overview on major opportunities for genomic and personalized medicine in practice Includes case studies that highlight the practical use of genomics in the management of patients