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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.

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."

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.

Understanding Genetics

Understanding Genetics PDF Author: Genetic Alliance
Publisher: Lulu.com
ISBN: 0982162219
Category : Biology
Languages : en
Pages : 104

Book Description
The purpose of this manual is to provide an educational genetics resource for individuals, families, and health professionals in the New York - Mid-Atlantic region and increase awareness of specialty care in genetics. The manual begins with a basic introduction to genetics concepts, followed by a description of the different types and applications of genetic tests. It also provides information about diagnosis of genetic disease, family history, newborn screening, and genetic counseling. Resources are included to assist in patient care, patient and professional education, and identification of specialty genetics services within the New York - Mid-Atlantic region. At the end of each section, a list of references is provided for additional information. Appendices can be copied for reference and offered to patients. These take-home resources are critical to helping both providers and patients understand some of the basic concepts and applications of genetics and genomics.

Nutrigenomics and Beyond

Nutrigenomics and Beyond PDF Author: Institute of Medicine
Publisher: National Academies Press
ISBN: 0309179874
Category : Science
Languages : en
Pages : 90

Book Description
The integration of biology, genomics, and health has opened the possibility of applying genomics technology to nutrition. In 2001, scientists associated with the Human Genome Project announced the successful mapping of the reference sequence of the human genome. Since then, a body of information has emerged. Genomics and related areas of research have contributed greatly to efforts to understand the cellular and molecular mechanisms underlying diet-disease relationships. Integration and application of genetic and genomics technology into nutrition research is, therefore, needed to develop nutrition research programs that are aimed at the prevention and control of chronic disease through genomics-based nutritional interventions. Of interest is the integration of relevant computational methods into nutritional genomics research; the enhancement of tools applicable to systems biology; and the effective dissemination of genomics-derived information to scientists, policy makers, and the interested public. To address these issues, a workshop was held on June 1 and 2, 2006. The workshop included presentations that were structured around three focus sessions: human genetic variation, epigenetics, and systems biology. A fourth session presented discussions on the implications of nutrigenomics for the future of nutrition science research. Numerous themes emerged from the workshop presentations. First, nutrigenomics is a complex field because it addresses issues related to multigenetic traits that can be modified by a number of nutritional and other environmental factors. Such complexity presents a challenge to the field; and the ensuing research opportunities will require cooperative work among scientific disciplines and across government, academic, and industrial centers, as well as adequate funding, to be realized. Additionally, the ability to stretch the limits of conventional research methodologies afforded by new genetic and genomic applications at the level of the individual opens the door to a wealth of potential benefits to areas such as disease prevention and wellness, bearing in mind the necessity of ethical safeguards. This potential, however, must be wisely exploited to avoid the pitfalls of overpromising research results and prematurely setting unrealistic expectations for beneficial outcomes. Finally, careful and rigorous research must be employed to optimize outcomes and assure acceptance by the scientific community. In summary, nutrition science is uniquely poised to serve as the crossroads for many disciplines and, using genomics tools, can bring this knowledge together to better understand and address diet-related chronic diseases and molecular responses to dietary factors.

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.

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: 0309178894
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.

Genetics and Evolution of Infectious Diseases

Genetics and Evolution of Infectious Diseases PDF Author: Michel Tibayrenc
Publisher: Elsevier
ISBN: 0123848903
Category : Medical
Languages : en
Pages : 773

Book Description
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

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.