Genetic Variation and Human Disease PDF Download

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Genetic Variation and Human Disease

Genetic Variation and Human Disease PDF Author: Kenneth M. Weiss
Publisher: Cambridge University Press
ISBN: 9780521336604
Category : Medical
Languages : en
Pages : 384

Book Description
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.

Genetic Variation and Human Disease

Genetic Variation and Human Disease PDF Author: Kenneth M. Weiss
Publisher: Cambridge University Press
ISBN: 9780521336604
Category : Medical
Languages : en
Pages : 384

Book Description
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.

Heritable Human Genome Editing

Heritable Human Genome Editing PDF Author: The Royal Society
Publisher: National Academies Press
ISBN: 0309671132
Category : Medical
Languages : en
Pages : 239

Book Description
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.

Evaluating Human Genetic Diversity

Evaluating Human Genetic Diversity PDF Author: National Research Council
Publisher: National Academies Press
ISBN: 0309184746
Category : Science
Languages : en
Pages : 101

Book Description
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.

Human Variation

Human Variation PDF Author: Aravinda Chakravarti
Publisher:
ISBN: 9781621820901
Category : Medical
Languages : en
Pages : 0

Book Description
"A subject collection from Cold Spring Harbor perspectives in medicine."

Applications of Toxicogenomic Technologies to Predictive Toxicology and Risk Assessment

Applications of Toxicogenomic Technologies to Predictive Toxicology and Risk Assessment PDF Author: National Research Council
Publisher: National Academies Press
ISBN: 0309112982
Category : Science
Languages : en
Pages : 300

Book Description
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.

Human Genetic Diversity

Human Genetic Diversity PDF Author: Julian C. Knight
Publisher: OUP Oxford
ISBN: 0191572586
Category : Science
Languages : en
Pages : 504

Book Description
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.

Genes, Behavior, and the Social Environment

Genes, Behavior, and the Social Environment PDF Author: Institute of Medicine
Publisher: National Academies Press
ISBN: 0309101964
Category : Social Science
Languages : en
Pages : 385

Book Description
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.

Immunopharmacogenomics

Immunopharmacogenomics PDF Author: Yusuke Nakamura
Publisher: Springer
ISBN: 4431557261
Category : Medical
Languages : en
Pages : 162

Book Description
This book proposes immunogenomics, or immunopharmacogenomics, as the next-generation big science to uncover the role that the immune system plays in the pathogenesis of many diseases, by summarizing the importance of the deep sequencing of T-cell and B-cell receptors. Immunogenomics/immunopharmacogenomics, a genetic characterization of the immune system made possible by next-generation sequencing (NGS), will be important for the further understanding of the pathogenesis of various disease conditions. Abnormal immune responses in the body lead to development of autoimmune diseases and food allergies. Rejection of recipient cells and tissues, as well as severe immune reactions to donor cells, is also the result of uncontrolled immune responses in the recipient body. There have been many reports indicating that activated immune responses caused by the interaction of drugs and HLA are present in drug-induced skin hypersensitivity and liver toxicity. The importance of the host immune responses has been recognized in cancer treatments, not only for immunotherapy but also for cytotoxic agents and molecular targeted drugs. Hence, characterization of the T-cell receptor and B-cell receptor repertoire by means of NGS deep sequencing will ultimately make possible the identification of the molecular mechanisms that underlie various diseases and drug responses. In addition, this approach may contribute to the identification of antigens associated with the onset or progression of autoimmune diseases as well as food allergies. Although the germline alterations and somatic mutations have been extensively analyzed, changes or alterations of the immune responses during the course of various disease conditions or during various treatments have not been analyzed. It is also clear that computational analyses to draw meaningful inferences of functional recognition receptors on the immune cells remain a huge challenge.

Vogel and Motulsky's Human Genetics

Vogel and Motulsky's Human Genetics PDF Author: Friedrich Vogel
Publisher: Springer Science & Business Media
ISBN: 9783540602903
Category : Medical
Languages : en
Pages : 898

Book Description
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.

Scientific Frontiers in Developmental Toxicology and Risk Assessment

Scientific Frontiers in Developmental Toxicology and Risk Assessment PDF Author: National Research Council
Publisher: National Academies Press
ISBN: 0309070864
Category : Nature
Languages : en
Pages : 348

Book Description
Scientific Frontiers in Developmental Toxicology and Risk Assessment reviews advances made during the last 10-15 years in fields such as developmental biology, molecular biology, and genetics. It describes a novel approach for how these advances might be used in combination with existing methodologies to further the understanding of mechanisms of developmental toxicity, to improve the assessment of chemicals for their ability to cause developmental toxicity, and to improve risk assessment for developmental defects. For example, based on the recent advances, even the smallest, simplest laboratory animals such as the fruit fly, roundworm, and zebrafish might be able to serve as developmental toxicological models for human biological systems. Use of such organisms might allow for rapid and inexpensive testing of large numbers of chemicals for their potential to cause developmental toxicity; presently, there are little or no developmental toxicity data available for the majority of natural and manufactured chemicals in use. This new approach to developmental toxicology and risk assessment will require simultaneous research on several fronts by experts from multiple scientific disciplines, including developmental toxicologists, developmental biologists, geneticists, epidemiologists, and biostatisticians.