Genome And Disease

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 : 53,5 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.

Author : Claudia Gonzaga-Jauregui,James R. Lupski
Publisher : Academic Press
Page : 316 pages
File Size : 52,7 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

Author : Anonim
Publisher : Academic Press
Page : 290 pages
File Size : 48,5 Mb
Release : 2020-04-08
Category : Medical
ISBN : 9780128178201

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Genome Plasticity in Health and Disease by Anonim Pdf

Genome Plasticity in Health and Disease provides a fully up-to-date overview on genome plasticity and its role in human physiology and disease. Following an introduction to the field, a diverse range of chapters cover genomic and epigenomic analysis and the use of model organisms and genomic databases in studies. Specific molecular and biochemical mechanisms of genome plasticity are examined, including somatic variants, De Novo variants, founder variations, isolated populations dynamics, copy-number variations, mobile elements, DNA methylation, histone modifications, transcription factors, non-coding RNAs, telomere dynamics and RNA editing. Later chapters explore disease relevance for cancer, as well as cardiovascular, neuropsychiatric, inflammatory, and endocrine disease, and associated pathways for drug discovery. Examines the role of genome plasticity across a range of disease types, from cardiovascular disease, to cancer and neuropsychiatric disorders Adopts an interdisciplinary approach, with expert contributions across the spectrum of basic science and disease relevance to drug discovery

Author : Tore Samuelsson
Publisher : Garland Science
Page : 543 pages
File Size : 46,7 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

Author : National Research Council,Division on Earth and Life Studies,Commission on Life Sciences,Committee on Mapping and Sequencing the Human Genome
Publisher : National Academies Press
Page : 128 pages
File Size : 50,6 Mb
Release : 1988-01-01
Category : Science
ISBN : 9780309038409

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Mapping and Sequencing the Human Genome by National Research Council,Division on Earth and Life Studies,Commission on Life Sciences,Committee on Mapping and Sequencing the Human Genome Pdf

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.

Author : Muin Khoury,Sara Bedrosian,Marta Gwinn,Julian Higgins,John Ioannidis,Julian Little
Publisher : Oxford University Press
Page : 704 pages
File Size : 48,6 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.

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 : 51,5 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.

Author : Greg Gibson
Publisher : FT Press
Page : 207 pages
File Size : 48,7 Mb
Release : 2008-12-24
Category : Science
ISBN : 9780132704212

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It Takes a Genome by Greg Gibson Pdf

Human beings have astonishing genetic vulnerabilities. More than half of us will die from complex diseases that trace directly to those vulnerabilities, and the modern world we’ve created places us at unprecedented risk from them. In It Takes a Genome, Greg Gibson posits a revolutionary new hypothesis: Our genome is out of equilibrium, both with itself and its environment. Simply put, our genes aren’t coping well with modern culture. Our bodies were never designed to subsist on fat and sugary foods; our immune systems weren’t designed for today’s clean, bland environments; our minds weren’t designed to process hard-edged, artificial electronic inputs from dawn ‘til midnight. And that’s why so many of us suffer from chronic diseases that barely touched our ancestors. Gibson begins by revealing the stunningly complex ways in which multiple genes cooperate and interact to shape our bodies and influence our behaviors. Then, drawing on the very latest science, he explains the genetic “mismatches” that increasingly lead to cancer, diabetes, inflammatory and infectious diseases, AIDS, depression, and senility. He concludes with a look at the probable genetic variations in human psychology, sharing the evidence that traits like introversion and agreeableness are grounded in equally complex genetic interactions. It Takes A Genome demolishes yesterday’s stale debates over “nature vs. nurture,” introducing a new view that is far more intriguing, and far closer to the truth. See how broken genes cause cancer Meet the body’s “genetic repairmen”—and understand what happens when they fail The growing price of the modern lifestyle Why one-third of all Westerners have obesity, Type 2 diabetes, or other signs of “metabolic syndrome” The Alzheimer’s generation Why some of us are predisposed to dementia What’s really normal: the deepest lessons of the human genome The remarkable diversity of physical and emotional “normality”

Author : Claudia N. Mikail
Publisher : John Wiley & Sons
Page : 431 pages
File Size : 53,8 Mb
Release : 2008-11-03
Category : Medical
ISBN : 9780470454411

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Public Health Genomics by Claudia N. Mikail Pdf

The Centers for Disease Control (CDC) has recognized genomics as a priority area in public health education. To help public health students and professionals achieve proficiency in the language of genetics and attain genomics competencies delineated by the CDC, this book offers an introduction to basic molecular genetics and discusses the relevance of genomics to such key public health issues as environmental health, ethnic health disparities, health policy and law, research ethics, maternal and child health, clinical preventive medicine, health behavior, health economics, and communicable disease control. Presented in a context that is easy to understand, the book serves as an accessible portal of entry into the world of public health genomics.

Author : Stephen H. Tsang
Publisher : Academic Press
Page : 138 pages
File Size : 54,8 Mb
Release : 2021-10-20
Category : Science
ISBN : 9780128178775

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CRISPR Genome Surgery in Stem Cells and Disease Tissues by Stephen H. Tsang Pdf

CRISPR Genome Surgery in Stem Cells and Disease Tissues focuses uniquely on the clinical applications of CRISPR/Cas9 based technology. Topics include the latest advances in gene editing and its translational applications to various diseases, including retinal degenerative disease, recessively inherited diseases, and dominantly inherited diseases, to name a few. The book's target audience includes researchers, students, clinicians and the general public. This space that is not currently served by any existing resource, so this publication fills a gap in current literature. Provides a thorough review of CRISPR-Cas9, from discovery to therapy Covers the latest advances in gene editing and its translational applications to various diseases Written by global leaders in the fields of gene editing and stem cell therapy

Author : Michel Tibayrenc
Publisher : Elsevier
Page : 773 pages
File Size : 55,6 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

Author : F. Blasi
Publisher : Unknown
Page : 696 pages
File Size : 41,5 Mb
Release : 1986-10-03
Category : Medical
ISBN : STANFORD:36105032411253

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Human Genes and Disease by F. Blasi Pdf

Author : Geraldo A. Passos
Publisher : Springer Nature
Page : 473 pages
File Size : 44,6 Mb
Release : 2022-03-07
Category : Science
ISBN : 9783030878214

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Transcriptomics in Health and Disease by Geraldo A. Passos Pdf

The study of transcriptomics is key to understanding complex diseases. This new edition will build on the foundation of the first edition while incorporating the progress that has been made in the field of transcriptomics in the past six years, including bioinformatics for data analysis. Written by leading experts, chapters address new subjects such as methodological advances in large-scale sequencing, the sequencing of single-cells, and spatial transcriptomics. The new edition will address how transcriptomics may be used in combination with genetic strategies to identify causative genes in monogenic and complex genetic diseases. Coverage will also explore transcriptomics in challenging groups of diseases, such as cancer, inflammation, bacterial infection, and autoimmune diseases. The updated volume will be useful for geneticists, genome biologists, biomedical researchers, molecular biologists, bioinformaticians, and students, among others.

Author : James R. Lupski,Pawel T. Stankiewicz
Publisher : Springer Science & Business Media
Page : 419 pages
File Size : 41,9 Mb
Release : 2007-11-10
Category : Medical
ISBN : 9781597450393

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Genomic Disorders by James R. Lupski,Pawel T. Stankiewicz Pdf

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.

Author : Dr. Euan Angus Ashley
Publisher : Celadon Books
Page : 221 pages
File Size : 48,8 Mb
Release : 2021-02-23
Category : Science
ISBN : 9781250234971

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The Genome Odyssey by Dr. Euan Angus Ashley Pdf

In The Genome Odyssey, Dr. Euan Ashley, Stanford professor of medicine and genetics, brings the breakthroughs of precision medicine to vivid life through the real diagnostic journeys of his patients and the tireless efforts of his fellow doctors and scientists as they hunt to prevent, predict, and beat disease. Since the Human Genome Project was completed in 2003, the price of genome sequencing has dropped at a staggering rate. It’s as if the price of a Ferrari went from $350,000 to a mere forty cents. Through breakthroughs made by Dr. Ashley’s team at Stanford and other dedicated groups around the world, analyzing the human genome has decreased from a heroic multibillion dollar effort to a single clinical test costing less than $1,000. For the first time we have within our grasp the ability to predict our genetic future, to diagnose and prevent disease before it begins, and to decode what it really means to be human. In The Genome Odyssey, Dr. Ashley details the medicine behind genome sequencing with clarity and accessibility. More than that, with passion for his subject and compassion for his patients, he introduces readers to the dynamic group of researchers and doctor detectives who hunt for answers, and to the pioneering patients who open up their lives to the medical community during their search for diagnoses and cures. He describes how he led the team that was the first to analyze and interpret a complete human genome, how they broke genome speed records to diagnose and treat a newborn baby girl whose heart stopped five times on the first day of her life, and how they found a boy with tumors growing inside his heart and traced the cause to a missing piece of his genome. These patients inspire Dr. Ashley and his team as they work to expand the boundaries of our medical capabilities and to envision a future where genome sequencing is available for all, where medicine can be tailored to treat specific diseases and to decode pathogens like viruses at the genomic level, and where our medical system as we know it has been completely revolutionized.