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 Heritable Human Genome Editing written by The Royal Society and published by National Academies Press. This book was released on 2021-01-16 with total page 239 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

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 Human Genome in Health and Disease written by Tore Samuelsson and published by Garland Science. This book was released on 2019-02-07 with total page 543 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Download or read book Genome Plasticity in Health and Disease written by and published by Academic Press. This book was released on 2020-04-08 with total page 290 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Download or read book Public Health Genomics written by Claudia N. Mikail and published by John Wiley & Sons. This book was released on 2008-11-03 with total page 431 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Download or read book It Takes a Genome written by Greg Gibson and published by FT Press. This book was released on 2008-12-24 with total page 207 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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”

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.

Download or read book The Human Mitochondrial Genome written by Giuseppe Gasparre and published by Academic Press. This book was released on 2020-07-23 with total page 596 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Human Mitochondrial Genome: From Basic Biology to Disease offers a comprehensive, up-to-date examination of human mitochondrial genomics, connecting basic research to translational medicine across a range of disease types. Here, international experts discuss the essential biology of human mitochondrial DNA (mtDNA), including its maintenance, repair, segregation, and heredity. Furthermore, mtDNA evolution and exploitation, mutations, methods, and models for functional studies of mtDNA are dealt with. Disease discussion is accompanied by approaches for treatment strategies, with disease areas discussed including cancer, neurodegenerative, age-related, mtDNA depletion, deletion, and point mutation diseases. Nucleosides supplementation, mitoTALENs, and mitoZNF nucleases are among the therapeutic approaches examined in-depth. With increasing funding for mtDNA studies, many clinicians and clinician scientists are turning their attention to mtDNA disease association. This book provides the tools and background knowledge required to perform new, impactful research in this exciting space, from distinguishing a haplogroup-defining variant or disease-related mutation to exploring emerging therapeutic pathways. Fully examines recent advances and technological innovations in the field, enabling new mtDNA studies, variant and mutation identification, pathogenic assessment, and therapies Disease discussion accompanied by diagnostic and therapeutic strategies currently implemented clinically Outlines and discusses essential research protocols and perspectives for young scientists to pick up Features an international team of authoritative contributors from basic biologists to clinician-scientists

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 DNA Methylation and Complex Human Disease written by Michel Neidhart and published by Academic Press. This book was released on 2015-08-11 with total page 546 pages. Available in PDF, EPUB and Kindle. Book excerpt: DNA Methylation and Complex Human Disease reviews the possibilities of methyl-group-based epigenetic biomarkers of major diseases, tailored epigenetic therapies, and the future uses of high-throughput methylome technologies. This volume includes many pertinent advances in disease-bearing research, including obesity, type II diabetes, schizophrenia, and autoimmunity. DNA methylation is also discussed as a plasma and serum test for non-invasive screening, diagnostic and prognostic tests, as compared to biopsy-driven gene expression analysis, factors which have led to the use of DNA methylation as a potential tool for determining cancer risk, and diagnosis between benign and malignant disease. Therapies are at the heart of this volume and the possibilities of DNA demethylation. In cancer, unlike genetic mutations, DNA methylation and histone modifications are reversible and thus have shown great potential in the race for effective treatments. In addition, the authors present the importance of high-throughput methylome analysis, not only in cancer, but also in non-neoplastic diseases such as rheumatoid arthritis. - Discusses breaking biomarker research in major disease families of current health concern and research interest, including obesity, type II diabetes, schizophrenia, and autoimmunity - Summarizes advances not only relevant to cancer, but also in non-neoplastic disease, currently an emerging field - Describes wholly new concepts, including the linking of metabolic pathways with epigenetics - Provides translational researchers with the knowledge of both basic research and clinic applications of DNA methylation in human diseases

Download or read book CRISPR Genome Surgery in Stem Cells and Disease Tissues written by Stephen H. Tsang and published by Academic Press. This book was released on 2021-10-20 with total page 138 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Download or read book Genetics and Evolution of Infectious Diseases written by Michel Tibayrenc and published by Elsevier. This book was released on 2010-12-17 with total page 773 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Download or read book The Genome Odyssey written by Dr. Euan Angus Ashley and published by Celadon Books. This book was released on 2021-02-23 with total page 221 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Download or read book Genome and Disease written by Jean-Nicolas Volff and published by Karger Medical and Scientific Publishers. This book was released on 2006-01-01 with total page 255 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cancer and other genetic human diseases are caused by a variety of mutations, ranging from subtle sequence changes to larger genomic rearrangements and alterations in chromosome number (aneuploidy). With contributions by reputed experts, this book aims to update the knowledge on the multiple mechanisms of genomic instability leading to human disease. Emphasis is given to the different types of genomic sequences involved in disease-related genomic rearrangements as well as to the various exogenous factors increasing the frequency of mutations. Several chapters are dedicated to the dysfunction of important cellular mechanisms like DNA repair and chromosome segregation, which may cause genomic instability and result in tumorigenesis. Important 'caretaker' genes controlling the stability of our genome have been identified through their defect in genomic instability syndromes, which are also extensively reviewed in this volume. This book provides an important update not only for investigators in biology and medicine, but also for physicians and anyone interested in the molecular basis of human disease.

Download or read book Genetic Epidemiology written by Melissa A. Austin and published by CABI. This book was released on 2013 with total page 223 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic epidemiology plays a key role in discovering genetic factors influencing health and disease, and in understanding how genes and environmental risk factors interact. There is growing interest in this field within public health, with the goal of translating the results into promoting health and preventing disease in both families and populations. This textbook provides graduate students with a working knowledge of genetic epidemiology research methods. Following an overview of the field, the book reviews key genetic concepts, provides an update on relevant genomic technology, including genome-wide chips and DNA sequencing, and describes methods for assessing the magnitude of genetic influences on diseases and risk factors. The book focuses on research study designs for discovering disease susceptibility genes, including family-based linkage analysis, candidate gene and genome-side association studies, assessing gene-environment interactions and epistasis, studies of Non-Mendelian inheritance, and statistical analyses of data from these studies. Specific applications of each research method are illustrated using a variety of diseases and risk factors relevant to public health, and useful web-based genetic analysis software, human reference panels, and repositories, that can greatly facilitate this work, are described.

Download or read book Renaissance Of Sickle Cell Disease Research In The Genome Era written by Betty Pace and published by World Scientific. This book was released on 2007-01-24 with total page 394 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Human Genome Project has spawned a Renaissance of research faced with the daunting expectation of personalized medicine for individuals with sickle cell disease in the Genome Era. This book offers a comprehensive and timeless account of emerging concepts in clinical and basic science research, and community concerns of health disparity to educate professionals, students and the general public about meeting this challenging expectation. Contributions from physicians, research scientists, scientific administrators and community workers make Renaissance of Sickle Cell Disease Research in the Genome Era unique among the catalogue of books on this genetic disorder.Part 1 offers detailed review of the National Heart Lung and Blood Institute's leadership role in funding sickle cell research, as well as developing progressive research initiatives and the predicted impact of the Human Genome Project. Part 2 gives an account of several clinical research perspectives based on the Cooperative Study of Sickle Cell Disease. These include recommendations for newborn screening, pain management, stroke, transfusion therapy and pediatric and adult healthcare. Part 3 offers novel insights into basic science research progress and the impact of the Human Genome Project on the direction of hemoglobinopathy research, including hemoglobin switching, bone marrow transplantation and gene therapy. Part 4 engages the reader in a culture-based discussion of the stigma attached to sickle cell disease in the African American community and the apprehensions about genetic research in this community. It concludes with a global perspective on sickle cell disease from African, European and American experiences. For readers seeking a definitive account of sickle cell disease appropriate for students, researchers and community workers, this collaborative effort is an ideal textbook./a