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Genetic Variation And Human Disease
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Book Synopsis Genetic Variation and Human Disease by : Kenneth M. Weiss
Download or read book Genetic Variation and Human Disease written by Kenneth M. Weiss and published by Cambridge University Press. This book was released on 1993 with total page 384 pages. Available in PDF, EPUB and Kindle. Book excerpt: Recent developments in molecular and computational methods have made it possible to identify the genetic basis of any biological trait, and have led to spectacular advances in the study of human disease. This book provides an overview of the concepts and methods needed to understand the genetic basis of biological traits, including disease, in humans. Using examples of qualitative and quantitative phenotypes, Professor Weiss shows how genetic variation may be quantified, and how relationships between genotype and phenotype may be inferred. This book will appeal to many biologists and biological anthropologists interested in the genetic basis of biological traits, as well as to epidemiologists, biomedical scientists, human geneticists and molecular biologists.
Book Synopsis Evaluating Human Genetic Diversity by : National Research Council
Download or read book Evaluating Human Genetic Diversity written by National Research Council and published by National Academies Press. This book was released on 1998-01-19 with total page 101 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book assesses the scientific value and merit of research on human genetic differencesâ€"including a collection of DNA samples that represents the whole of human genetic diversityâ€"and the ethical, organizational, and policy issues surrounding such research. Evaluating Human Genetic Diversity discusses the potential uses of such collection, such as providing insight into human evolution and origins and serving as a springboard for important medical research. It also addresses issues of confidentiality and individual privacy for participants in genetic diversity research studies.
Book Synopsis Heritable Human Genome Editing by : The Royal Society
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.
Book Synopsis Human Variation by : Aravinda Chakravarti
Download or read book Human Variation written by Aravinda Chakravarti and published by . This book was released on 2014 with total page 200 pages. Available in PDF, EPUB and Kindle. Book excerpt: "A subject collection from Cold Spring Harbor perspectives in medicine."
Book Synopsis Frontiers in the Nutrition Sciences by : Institute of Medicine
Download or read book Frontiers in the Nutrition Sciences written by Institute of Medicine and published by National Academies Press. This book was released on 1989-02-01 with total page 241 pages. Available in PDF, EPUB and Kindle. Book excerpt: This series of individually authored chapters examines the nature and extent of scientific advances in the nutrition sciences and describes both future opportunities in the field and barriers to progress. Despite concern about declining attention to nutrition in universities and medical schools, the authors offer a bright and challenging future in nutrition research and training that should generate enthusiasm among young researchers and teachers for this indispensable component of biology.
Book Synopsis Applications of Toxicogenomic Technologies to Predictive Toxicology and Risk Assessment by : National Research Council
Download or read book Applications of Toxicogenomic Technologies to Predictive Toxicology and Risk Assessment written by National Research Council and published by National Academies Press. This book was released on 2007-12-19 with total page 300 pages. Available in PDF, EPUB and Kindle. Book excerpt: The new field of toxicogenomics presents a potentially powerful set of tools to better understand the health effects of exposures to toxicants in the environment. At the request of the National Institute of Environmental Health Sciences, the National Research Council assembled a committee to identify the benefits of toxicogenomics, the challenges to achieving them, and potential approaches to overcoming such challenges. The report concludes that realizing the potential of toxicogenomics to improve public health decisions will require a concerted effort to generate data, make use of existing data, and study data in new waysâ€"an effort requiring funding, interagency coordination, and data management strategies.
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 Interpreting the Role of Non-coding Genetic Variation in Human Disease by : Abhishek Kulshreshtha Sarkar
Download or read book Interpreting the Role of Non-coding Genetic Variation in Human Disease written by Abhishek Kulshreshtha Sarkar and published by . This book was released on 2017 with total page 107 pages. Available in PDF, EPUB and Kindle. Book excerpt: One of the fundamental goals of human genetics is to identify the genetic causes of human disease to ultimately design novel therapeutics. However, two challenges have become readily apparent. First, the majority of genomic regions associated with disease do not implicate protein-altering variants but might instead alter gene regulation, making interpretation and validation more difficult. Second, the genomic regions associated with disease explain a fraction of the variance of associated phenotypes, suggesting human diseases are highly polygenic and that many additional regions remain to be discovered and characterized. Here, we address these challenges by using functional annotation of the human genome spanning diverse data types: epigenomic profiles, gene regulatory circuitry, and biological pathways. We first develop a method to simultaneously select relevant genomic regions not yet associated with disease as well as select relevant functional annotations enriched in those regions. We show that both tissue-specific and shared regulatory regions are enriched for disease associations across eight common diseases. We then characterize specific genetic variants in the selected regions, the gene regulatory elements they reside in, the cellular contexts in which those elements are active, their upstream regulators, their downstream target genes, and the biological pathways they disrupt across eight common diseases. We show that disease associations are additionally enriched in regulatory motifs of relevant transcription factors and in relevant biological pathways. We finally investigate why predicted regulatory elements are enriched in disease-associated variants by framing the problem as Bayesian inference of hyperparameters in a structured sparse regression model. We propose an active sampling method to efficiently explore the hyperparameter space and avoid exponential scaling in the dimension of the hyperparameters. We show in simulation that our method can distinguish between possible explanations of the observed enrichments, and we characterize potential biases in the estimates. Together, our results can help guide the development of new models of disease and gene regulation and discovery of biologically meaningful, but currently undetectable regulatory loci underlying a number of common diseases.
Book Synopsis The Science of Health Disparities Research by : Irene Dankwa-Mullan
Download or read book The Science of Health Disparities Research written by Irene Dankwa-Mullan and published by John Wiley & Sons. This book was released on 2021-03-16 with total page 548 pages. Available in PDF, EPUB and Kindle. Book excerpt: Integrates the various disciplines of the science of health disparities in one comprehensive volume The Science of Health Disparities Research is an indispensable source of up-to-date information on clinical and translational health disparities science. Building upon the advances in health disparities research over the past decade, this authoritative volume informs policies and practices addressing the diseases, disorders, and gaps in health outcomes that are more prevalent in minority populations and socially disadvantaged communities. Contributions by recognized scholars and leaders in the field—featuring contemporary research, conceptual models, and a broad range of scientific perspectives—provide an interdisciplinary approach to reducing inequalities in population health, encouraging community engagement in the research process, and promoting social justice. In-depth chapters help readers better understand the specifics of minority health and health disparities while demonstrating the importance of advancing theory, refining measurement, improving investigative methods, and diversifying scientific research. In 26 chapters, the book examines topics including the etiology of health disparities research, the determinants of population health, research ethics, and research in African American, Asians, Latino, American Indian, and other vulnerable populations. Providing a unified framework on the principles and applications of the science of health disparities research, this important volume: Defines the field of health disparities science and suggests new directions in scholarship and research Explains basic definitions, principles, and concepts for identifying, understanding and addressing health disparities Provides guidance on both conducting health disparities research and translating the results Examines how social, historical and contemporary injustices may influence the health of racial and ethnic minorities Illustrates the increasing national and global importance of addressing health disparities Discusses population health training, capacity-building, and the transdisciplinary tools needed to advance health equity A significant contribution to the field, The Science of Health Disparities Research is an essential resource for students and basic and clinical researchers in genetics, population genetics, and public health, health care policymakers, and epidemiologists, medical students, and clinicians, particularly those working with minority, vulnerable, or underserved populations.
Book Synopsis Variation in the Human Genome by : Derek J. Chadwick
Download or read book Variation in the Human Genome written by Derek J. Chadwick and published by John Wiley & Sons. This book was released on 2008-04-30 with total page 340 pages. Available in PDF, EPUB and Kindle. Book excerpt: The mapping of human genes is proceeding rapidly. Genes associated with specific inherited diseases are being identified, often providing insight into the molecular cause of the disease. At the moment, however, little consideration is being given to the variation present in different human populations. Variation in the Human Genome discusses methods of analysing population genetic data and how contemporary genetic heterogeneity arises during the evolution and migration of human populations. Specific disorders such as cystic fibrosis, beta-thalassaemia, fragile X, phenylketonuria and tumour development susceptibility are used to illustrate this genetic variability and mechanisms of gene mutation and evolution.
Book Synopsis Vogel and Motulsky's Human Genetics by : Friedrich Vogel
Download or read book Vogel and Motulsky's Human Genetics written by Friedrich Vogel and published by Springer Science & Business Media. This book was released on 1997 with total page 898 pages. Available in PDF, EPUB and Kindle. Book excerpt: Provides information on the molecular basis of human genetics and outlines the principles of other epigenetic processes which together create the phenotype of a human being. This work also discusses the molecular basis for the concepts, methods and results in fields such as population genetics.
Book Synopsis Genetic Variation and Its Maintenance by : Derek Frank Roberts
Download or read book Genetic Variation and Its Maintenance written by Derek Frank Roberts and published by Cambridge University Press. This book was released on 1986-10-30 with total page 318 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume considers the genetic variability of human populations, particularly in the tropics: its origins and maintenance, and its contribution to the phenotypic variability of complex characters. The first section deals with the ways of analysing genetic variation and provides a valuable review of relevant developments in molecular biology. The origin and maintenance of genetic diversity is considered in the second section with data presented for Pacific, African, Asian and Central American populations. The final section concerns characters in which the genetic contribution to variability is complex and shows how such characters may be used to elucidate biological problems of affinity and differentiation, of adaptation and survival. Published as part of the Decade of the Tropics research programme of the International Union of Biological Sciences, this volume will be of particular interest to human geneticists, physical and biological anthropologists.
Book Synopsis Human Genetic Diversity by : Julian C. Knight
Download or read book Human Genetic Diversity written by Julian C. Knight and published by OUP Oxford. This book was released on 2009-08-06 with total page 504 pages. Available in PDF, EPUB and Kindle. Book excerpt: The secrets of our genetic heritage are finally being unlocked. The massive scientific effort to sequence the human genome is in fact just the beginning of a long journey as the extraordinary genetic diversity that exists between individuals becomes clear. Work in this field promises much: to understand our evolutionary origins, to define us as individuals, to predict our risk of disease and to more effectively understand, treat and prevent illness. Contemporary genetic research is allowing the basis of both rare inherited disorders and common multifactorial diseases like asthma and diabetes to be more clearly defined. Huge investments are being made and great advances have been achieved, but the challenges remain daunting. This book provides an authoritative overview of this topical and very rapidly advancing field of biomedical research. Human Genetic Diversity describes the major classes of genetic variation and their functional consequences. A combination of cutting-edge research and landmark historical studies illustrate developments in the field, the rationale for current studies and likely future directions. Major structural variants at a chromosomal level are described, as well as copy number variation and sequence level genetic diversity. Evidence of selective pressures in human populations and insights into human evolution are illustrated. The book describes the development of linkage analysis and more recently genome-wide association studies to define the genetic basis of disease, current approaches to defining functional causative variants and the emerging fields of pharmacogenomics and individualised medicine.
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 Genetic variation and human disease by :
Download or read book Genetic variation and human disease written by and published by . This book was released on with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Concepts of Epidemiology by : Raj S. Bhopal
Download or read book Concepts of Epidemiology written by Raj S. Bhopal and published by Oxford University Press. This book was released on 2016 with total page 481 pages. Available in PDF, EPUB and Kindle. Book excerpt: First edition published in 2002. Second edition published in 2008.
Book Synopsis Human Gene Mutation by : David N. Cooper
Download or read book Human Gene Mutation written by David N. Cooper and published by Taylor & Francis. This book was released on 1995 with total page 412 pages. Available in PDF, EPUB and Kindle. Book excerpt: Within the last decade, much progress has been made in the analysis and diagnosis of human inherited disease, and in the characterization of the underlying genes and their associated pathological lesions.
