Human Genes And Disease

Author : Genetic Alliance,New York-Mid-Atlantic Consortium for Genetic and Newborn Screening Services
Publisher : Lulu.com
Page : 104 pages
File Size : 42,5 Mb
Release : 2009
Category : Biology
ISBN : 9780982162217

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Understanding Genetics by Genetic Alliance,New York-Mid-Atlantic Consortium for Genetic and Newborn Screening Services Pdf

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.

Author : I. Rasko,C.S. Downes
Publisher : Springer Science & Business Media
Page : 436 pages
File Size : 42,7 Mb
Release : 1994-09-30
Category : Medical
ISBN : 0412373408

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Genes in Medicine by I. Rasko,C.S. Downes Pdf

This stimulating book bridges the gap between molecular biology and human genetics. Specifically written for medical students and human geneticists, it is a valuable guide to a rapidly moving field.

Author : The Royal Society,National Academy of Sciences,National Academy of Medicine,International Commission on the Clinical Use of Human Germline Genome Editing
Publisher : National Academies Press
Page : 239 pages
File Size : 44,9 Mb
Release : 2021-01-16
Category : Medical
ISBN : 9780309671132

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Heritable Human Genome Editing by The Royal Society,National Academy of Sciences,National Academy of Medicine,International Commission on the Clinical Use of Human Germline Genome Editing Pdf

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 : Leon E. Rosenberg,Diane Drobnis Rosenberg
Publisher : Academic Press
Page : 446 pages
File Size : 45,6 Mb
Release : 2012-05-21
Category : Science
ISBN : 9780123852137

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Human Genes and Genomes by Leon E. Rosenberg,Diane Drobnis Rosenberg Pdf

In the nearly 60 years since Watson and Crick proposed the double helical structure of DNA, the molecule of heredity, waves of discoveries have made genetics the most thrilling field in the sciences. The study of genes and genomics today explores all aspects of the life with relevance in the lab, in the doctor’s office, in the courtroom and even in social relationships. In this helpful guidebook, one of the most respected and accomplished human geneticists of our time communicates the importance of genes and genomics studies in all aspects of life. With the use of core concepts and the integration of extensive references, this book provides students and professionals alike with the most in-depth view of the current state of the science and its relevance across disciplines. Bridges the gap between basic human genetic understanding and one of the most promising avenues for advances in the diagnosis, prevention and treatment of human disease. Includes the latest information on diagnostic testing, population screening, predicting disease susceptibility, pharmacogenomics and more Explores ethical, legal, regulatory and economic aspects of genomics in medicine. Integrates historical (classical) genetics approach with the latest discoveries in structural and functional genomics

Author : National Research Council,Division on Earth and Life Studies,Commission on Life Sciences,Committee on Mapping and Sequencing the Human Genome
Publisher : National Academies Press
Page : 128 pages
File Size : 41,7 Mb
Release : 1988-01-01
Category : Science
ISBN : 9780309038409

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Mapping and Sequencing the Human Genome by National Research Council,Division on Earth and Life Studies,Commission on Life Sciences,Committee on Mapping and Sequencing the Human Genome Pdf

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 : Institute of Medicine,Board on Health Sciences Policy,Committee on Assessing Interactions Among Social, Behavioral, and Genetic Factors in Health
Publisher : National Academies Press
Page : 385 pages
File Size : 50,6 Mb
Release : 2006-12-07
Category : Social Science
ISBN : 9780309101967

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Genes, Behavior, and the Social Environment by Institute of Medicine,Board on Health Sciences Policy,Committee on Assessing Interactions Among Social, Behavioral, and Genetic Factors in Health Pdf

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 : Alan Wright,Nicholas Hastie
Publisher : Cambridge University Press
Page : 525 pages
File Size : 49,8 Mb
Release : 2007-08-02
Category : Medical
ISBN : 9780521833394

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Genes and Common Diseases by Alan Wright,Nicholas Hastie Pdf

This book examines the role of genetics in modern medicine, reflecting the strengths and limitations of a genetic perspective.

Author : Michel Neidhart
Publisher : Academic Press
Page : 552 pages
File Size : 43,8 Mb
Release : 2015-08-11
Category : Science
ISBN : 9780127999203

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DNA Methylation and Complex Human Disease by Michel Neidhart Pdf

DNA Methylation and Complex Human Disease reviews the possibilities of methyl-group-based epigenetic biomarkers of major diseases, tailored epigenetic therapies, and the future uses of high-throughput methylome technologies. This volume includes many pertinent advances in disease-bearing research, including obesity, type II diabetes, schizophrenia, and autoimmunity. DNA methylation is also discussed as a plasma and serum test for non-invasive screening, diagnostic and prognostic tests, as compared to biopsy-driven gene expression analysis, factors which have led to the use of DNA methylation as a potential tool for determining cancer risk, and diagnosis between benign and malignant disease. Therapies are at the heart of this volume and the possibilities of DNA demethylation. In cancer, unlike genetic mutations, DNA methylation and histone modifications are reversible and thus have shown great potential in the race for effective treatments. In addition, the authors present the importance of high-throughput methylome analysis, not only in cancer, but also in non-neoplastic diseases such as rheumatoid arthritis. Discusses breaking biomarker research in major disease families of current health concern and research interest, including obesity, type II diabetes, schizophrenia, and autoimmunity Summarizes advances not only relevant to cancer, but also in non-neoplastic disease, currently an emerging field Describes wholly new concepts, including the linking of metabolic pathways with epigenetics Provides translational researchers with the knowledge of both basic research and clinic applications of DNA methylation in human diseases

Author : Victor Fargo
Publisher : Foster Academics
Page : 254 pages
File Size : 52,5 Mb
Release : 2019-06-25
Category : Medical
ISBN : 163242696X

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The Human Genome in Health and Disease by Victor Fargo Pdf

The human genome refers to the complete set of nucleic acid sequences in humans. It is encoded as DNA in the 23 chromosome pairs. The human genome is over 3 billion base pairs long. Any abnormality in the structure or function of these genes or chromosomes can result in a genetic disorder. Knockouts and mutations in specific genes can have severe consequences in terms of gene function and gene expression. Genetic diseases may occur due to a single gene or due to multiple genes. Over 6000 diseases in humans can be attributed to single-gene defects. When multiple genes contribute to a genetic disorder, such as in the case of diabetes, heart disease, obesity, asthma or autoimmune diseases, it is difficult to study and treat them. A number of diseases are also related to large-scale genomic abnormalities. Nondisjunction of entire chromosomes can lead to disorders such as Turner Syndrome and Down syndrome. This book contains some path-breaking studies on the human genome and its relevance to health care. The topics included in this book on the human genome are of utmost significance and bound to provide incredible insights to readers. It is a vital tool for all researching and studying this field.

Author : F. Blasi
Publisher : Unknown
Page : 696 pages
File Size : 48,8 Mb
Release : 1986-10-03
Category : Medical
ISBN : STANFORD:36105032411253

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Human Genes and Disease by F. Blasi Pdf

Author : Robert F. Weir,Susan C. Lawrence,Evan Fales
Publisher : University of Iowa Press
Page : 274 pages
File Size : 46,5 Mb
Release : 1994
Category : Psychology
ISBN : 1587292483

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Genes and Human Self-knowledge by Robert F. Weir,Susan C. Lawrence,Evan Fales Pdf

Author : Nicholas W. Gillham
Publisher : FT Press
Page : 353 pages
File Size : 53,6 Mb
Release : 2011
Category : Anatomy
ISBN : 8210379456XXX

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Genes, Chromosomes, and Disease: From Simple Traits, to Complex Traits, to Personalized Medicine by Nicholas W. Gillham Pdf

This readable overview covers the rise of medical genetics through the past century, and the eugenic impulses it has inspired. Nicholas Gillham reviews the linkages between genes and disease; ethnic groups & rsquo; differential susceptibility to genetic traits and disorders; personalized medicine; and crucial social and ethical issues arising from the field & rsquo;s progress.

Author : Michel Tibayrenc
Publisher : Elsevier
Page : 773 pages
File Size : 53,7 Mb
Release : 2010-12-17
Category : Medical
ISBN : 9780123848901

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Genetics and Evolution of Infectious Diseases by Michel Tibayrenc Pdf

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

Author : James R. Lupski,Pawel T. Stankiewicz
Publisher : Springer Science & Business Media
Page : 426 pages
File Size : 41,6 Mb
Release : 2007-11-10
Category : Medical
ISBN : 9781597450393

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Genomic Disorders by James R. Lupski,Pawel T. Stankiewicz Pdf

A grand summary and synthesis of the tremendous amount of data now available in the post genomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to both evolution and to explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variation of the human genome and to model genomic disorders in mice are also presented. Two appendices detail the genomic disorders, providing genomic features at the locus undergoing rearrangement, their clinical features, and frequency of detection.

Author : Eve K. Nichols
Publisher : Harvard University Press
Page : 268 pages
File Size : 50,7 Mb
Release : 1988
Category : Gene therapy
ISBN : 0674414802

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Human Gene Therapy by Eve K. Nichols Pdf

Nichols explores the potential for gene therapy and identifies those who are candidates for it. Having provided a biomedical background for understanding somatic cell gene therapy, she takes a thoughtful look at complex and sensitive issues surrounding ethical, economic, and policy aspects of manipulating human genes.