[PDF] Understanding The Impact Of Gene Mutation On Health Diseases An Overview eBook

Author : Dr.HAKIM
Publisher : Dr.Hakim Saboowala
Page : pages
File Size : 16,61 MB
Release : 2020-04-09
Category : Medical
ISBN :

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Each cell depends on thousands of proteins to do their jobs in the right places at the right times, to function correctly Sometimes, gene mutations prevent one or more of these proteins from working properly. By changing a gene’s instructions for making a protein, a mutation can cause the protein to malfunction or to be missing entirely. When a mutation alters a protein that plays a critical role in the body, it can disrupt normal development or cause a medical condition. A condition caused by mutations in one or more genes is called a genetic disorder. In some cases, gene mutations are so severe that they prevent an embryo from surviving until birth. · These changes occur in genes that are essential for development, and often disrupt the development of an embryo in its earliest stages. · Because these mutations have very serious effects, they are incompatible with life. It is important to note that genes themselves do not cause disease—genetic disorders are caused by mutations that make a gene function improperly. · For example, when people say that someone has the “cystic fibrosis gene,” they are usually referring to a mutated version of the CFTR gene, which causes the disease. · All people, including those without cystic fibrosis, have a version of the CFTR gene An attempt has been made in this informative Booklet to summarize the fundamental topics related to genetic mutations and its impact on health and development along with several illustrations. …Dr. H. K. Saboowala. M.B.(Bom) .M.R.S.H.(London)

Author : National Research Council
Publisher : National Academies
Page : 436 pages
File Size : 45,9 MB
Release : 1990-02-01
Category : Science
ISBN : 0309039959

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This book reevaluates the health risks of ionizing radiation in light of data that have become available since the 1980 report on this subject was published. The data include new, much more reliable dose estimates for the A-bomb survivors, the results of an additional 14 years of follow-up of the survivors for cancer mortality, recent results of follow-up studies of persons irradiated for medical purposes, and results of relevant experiments with laboratory animals and cultured cells. It analyzes the data in terms of risk estimates for specific organs in relation to dose and time after exposure, and compares radiation effects between Japanese and Western populations.

Author : Institute of Medicine
Publisher : National Academies Press
Page : 385 pages
File Size : 44,78 MB
Release : 2006-12-07
Category : 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.

Author : Institute of Medicine
Publisher : National Academies Press
Page : 353 pages
File Size : 36,86 MB
Release : 1994-01-01
Category : 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.

Author : National Research Council
Publisher : National Academies Press
Page : 184 pages
File Size : 38,84 MB
Release : 2004-09-08
Category : Social Science
ISBN : 0309165865

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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.

Author : National Research Council
Publisher : National Academies Press
Page : 128 pages
File Size : 11,88 MB
Release : 1988-01-01
Category : Science
ISBN : 0309038405

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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.

Author : Lisa Bartee
Publisher :
Page : pages
File Size : 39,4 MB
Release : 2017
Category :
ISBN : 9781636350417

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The Principles of Biology sequence (BI 211, 212 and 213) introduces biology as a scientific discipline for students planning to major in biology and other science disciplines. Laboratories and classroom activities introduce techniques used to study biological processes and provide opportunities for students to develop their ability to conduct research.

Author : Committee to Assess Health Risks from Exposure to Low Levels of Ionizing Radiation
Publisher : National Academies Press
Page : 422 pages
File Size : 28,80 MB
Release : 2006-03-23
Category : Science
ISBN : 0309133343

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This book is the seventh in a series of titles from the National Research Council that addresses the effects of exposure to low dose LET (Linear Energy Transfer) ionizing radiation and human health. Updating information previously presented in the 1990 publication, Health Effects of Exposure to Low Levels of Ionizing Radiation: BEIR V, this book draws upon new data in both epidemiologic and experimental research. Ionizing radiation arises from both natural and man-made sources and at very high doses can produce damaging effects in human tissue that can be evident within days after exposure. However, it is the low-dose exposures that are the focus of this book. So-called “late” effects, such as cancer, are produced many years after the initial exposure. This book is among the first of its kind to include detailed risk estimates for cancer incidence in addition to cancer mortality. BEIR VII offers a full review of the available biological, biophysical, and epidemiological literature since the last BEIR report on the subject and develops the most up-to-date and comprehensive risk estimates for cancer and other health effects from exposure to low-level ionizing radiation.

Author : The Royal Society
Publisher : National Academies Press
Page : 239 pages
File Size : 12,39 MB
Release : 2021-01-16
Category : Medical
ISBN : 0309671132

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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.

Author : National Research Council
Publisher : National Academies Press
Page : 765 pages
File Size : 40,19 MB
Release : 1989-01-01
Category : Medical
ISBN : 0309039940

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Diet and Health examines the many complex issues concerning diet and its role in increasing or decreasing the risk of chronic disease. It proposes dietary recommendations for reducing the risk of the major diseases and causes of death today: atherosclerotic cardiovascular diseases (including heart attack and stroke), cancer, high blood pressure, obesity, osteoporosis, diabetes mellitus, liver disease, and dental caries.