Defining The Genetic Basis Of Three Hereditary Neurological Conditions In Families From The Indian Subcontinent PDF Download

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Genes, Behavior, and the Social Environment

Genes, Behavior, and the Social Environment
Author: Institute of Medicine
Publisher: National Academies Press
Total Pages: 385
Release: 2006-12-07
Genre: Social Science
ISBN: 0309101964

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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.


Disease Control Priorities, Third Edition (Volume 4)

Disease Control Priorities, Third Edition (Volume 4)
Author: Vikram Patel
Publisher: World Bank Publications
Total Pages: 307
Release: 2016-03-10
Genre: Medical
ISBN: 1464804281

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Mental, neurological, and substance use disorders are common, highly disabling, and associated with significant premature mortality. The impact of these disorders on the social and economic well-being of individuals, families, and societies is large, growing, and underestimated. Despite this burden, these disorders have been systematically neglected, particularly in low- and middle-income countries, with pitifully small contributions to scaling up cost-effective prevention and treatment strategies. Systematically compiling the substantial existing knowledge to address this inequity is the central goal of this volume. This evidence-base can help policy makers in resource-constrained settings as they prioritize programs and interventions to address these disorders.


Assessing Genetic Risks

Assessing Genetic Risks
Author: Institute of Medicine
Publisher: National Academies Press
Total Pages: 353
Release: 1994-01-01
Genre: Medical
ISBN: 0309047986

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Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings.


The Genetics of African Populations in Health and Disease

The Genetics of African Populations in Health and Disease
Author: Muntaser E. Ibrahim
Publisher: Cambridge University Press
Total Pages: 351
Release: 2019-12-19
Genre: History
ISBN: 1107072026

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A pioneering work that focuses on the unique diversity of African genetics, offering insights into human biology and genetic approaches.


Cassidy and Allanson's Management of Genetic Syndromes

Cassidy and Allanson's Management of Genetic Syndromes
Author: John C. Carey
Publisher: John Wiley & Sons
Total Pages: 1104
Release: 2021-01-27
Genre: Science
ISBN: 1119432677

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MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.


Genomics and Health in the Developing World

Genomics and Health in the Developing World
Author: Dhavendra Kumar
Publisher: Oxford University Press
Total Pages: 1569
Release: 2012-05-11
Genre: Medical
ISBN: 019970547X

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Genomics and Health in the Developing World provides detailed and comprehensive coverage of population structures, human genomics, and genome variation--with particular emphasis on medical and health issues--in the emerging economies and countries of the developing world. With sections dedicated to fundamtals of genetics and genomics, epidemiology of human disease, biomarkers, comparative genomics, developments in translational genomic medicine, current and future health strategies related to genetic disease, and pertinent legislative and social factors, this volume highlights the importance of utilizing genetics/genomics knowledge to promote and achieve optimal health in the developing world. Grouped by geographic region, the chapters in this volume address: - Inherited disorders in the developing world, including a thorough look at genetic disorders in minority groups of every continent - The progress of diagnostic laboratory genetic testing, prenatal screening, and genetic counseling worldwide - Rising ethical and legal concerns of medical genetics in the developing world - Social, cultural, and religious issues related to genetic diseases across continents Both timely and vastly informative, this book is a unique and comprehensive resource for genetists, clinicians, and public health professionals interested in the social, ethical, economic, and legal matters associated with medical genetics in the developing world.


Neurological, Psychiatric, and Developmental Disorders

Neurological, Psychiatric, and Developmental Disorders
Author: Institute of Medicine
Publisher: National Academies Press
Total Pages: 458
Release: 2001-01-01
Genre: Medical
ISBN: 0309170931

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Brain disordersâ€"neurological, psychiatric, and developmentalâ€"now affect at least 250 million people in the developing world, and this number is expected to rise as life expectancy increases. Yet public and private health systems in developing countries have paid relatively little attention to brain disorders. The negative attitudes, prejudice, and stigma that often surround many of these disorders have contributed to this neglect. Lacking proper diagnosis and treatment, millions of individual lives are lost to disability and death. Such conditions exact both personal and economic costs on families, communities, and nations. The report describes the causes and risk factors associated with brain disorders. It focuses on six representative brain disorders that are prevalent in developing countries: developmental disabilities, epilepsy, schizophrenia, bipolar disorder, depression, and stroke. The report makes detailed recommendations of ways to reduce the toll exacted by these six disorders. In broader strokes, the report also proposes six major strategies toward reducing the overall burden of brain disorders in the developing world.


Hereditary Hearing Loss and Its Syndromes

Hereditary Hearing Loss and Its Syndromes
Author: Helga V. Toriello
Publisher: Oxford University Press
Total Pages: 749
Release: 2013-06-20
Genre: Medical
ISBN: 0199313881

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This is the third edition of the foremost medical reference on hereditary hearing loss. Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular diagnosis and on genetic susceptibility to ototoxic factors have been added. As in previous editions, the syndromes are grouped by system (visual, metabolic, cardiologic, neurologic, musculoskeletal, endocrine, etc.), with each chapter written by a recognized expert in the field. Written for practicing clinicians, this volume is an excellent reference for physicians, audiologists, and other professionals working with individuals with hearing loss and their families, and can also serve as a text for clinical training programs and for researchers in the hearing sciences.