The Genetic Approach to Human Disease

The Genetic Approach to Human Disease PDF Author: Vincent M. Riccardi
Publisher: Oxford University Press, USA
ISBN: 9780195021769
Category : Language Arts & Disciplines
Languages : en
Pages : 296

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Book Description

The Genetic Approach to Human Disease

The Genetic Approach to Human Disease PDF Author: Vincent M. Riccardi
Publisher: Oxford University Press, USA
ISBN: 9780195021769
Category : Language Arts & Disciplines
Languages : en
Pages : 296

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Book Description


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

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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 Diseases of the Kidney

Genetic Diseases of the Kidney PDF Author: Richard P. Lifton
Publisher: Academic Press
ISBN: 0080924271
Category : Science
Languages : en
Pages : 895

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Book Description
Genetic approaches have revolutionized our understanding of the fundamental causes of human disease by permitting the identification of specific genes in which variation causes or contributes to susceptibility to, or protection from, disease. More than 2,000 disease genes have been identified in the last 20 years, providing important new insight into the pathophysiology of diseases in every field of medicine. Genetic Diseases of the Kidney offers expert insight into the role of genetic abnormalities in the pathogenesis of abnormal kidney function and kidney disease. Genetic abnormalities are carefully presented within the appropriate physiologic context so that readers will understand not only which genes are linked to which diseases but also which pathways lead from a genetic “disturbance to the systemic appearance of disease. Lays the essential foundation of mammalian genetics principles for medical professionals with little or no background in genetics Analyzes specific renal diseases – both monogenic disorders confined to the kidney and systemic diseases with renal involvement – and explains their genetic causes World-renowned editors and authors offer expert frameworks for understanding the links between genes and complex clinical disorders (i.e., lupus, diabetes, HIV, and hypertension)

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

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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.

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

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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.

Human Genetic Disease Analysis

Human Genetic Disease Analysis PDF Author: Kay E. Davies
Publisher:
ISBN:
Category : Medical
Languages : en
Pages : 152

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Book Description
This book covers all of the commonly used methods for the analysis and diagnosis of human genetic diseases. The chapters describe the analysis of gene mutations as well as the functional organization of genes and chromosomal regions, keeping up-to-date with recent advances in the field. Revisions in this second edition include sections on PCR and FISH. When the first edition of this book was published, prenatal diagnosis based on DNA analysis was performed in two weeks. The advent of PCR has allowed this process to be completed in just a few hours. PCR has had an impact in almost all areas of molecular medicine and thus all the chapters in this new edition have been significantly revised. The development of fluorescence in situ hybridization (FISH) has been important for both genome analysis and diagnosis. This revolutionary new technology is detailed in this volume. The book will be valuable for scientists working in a pure research environment as well as those in service laboratories analyzing different human disease mutations.

From Gene to Therapy

From Gene to Therapy PDF Author: Michael Dean
Publisher: Biota Publishing
ISBN: 1615047530
Category : Science
Languages : en
Pages : 104

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Book Description
Lecture provides an overview of the progress made in molecular medicine applying genetics and genomics to the understanding, diagnosis, and treatment of human diseases. Specifically, the methods for identifying genes involved in human diseases are described. Examples from 10 genes and diseases will be provided, drawing on the author's research. Topics include examples from simple Mendelian diseases, such as cystic fibrosis, inherited cancers, oncogenes activated by chromosomal translocations, host genes involved in infectious disease, genes identified via genomewide association studies, pathogens causing cancer, and gene families contributing to multiple diseases. For each example, historical details will be provided as background for readers to understand the context and process of the discoveries, technologies explained, and current understanding and treatment implications detailed.

Network Medicine

Network Medicine PDF Author: Joseph Loscalzo
Publisher: Harvard University Press
ISBN: 0674436539
Category : Medical
Languages : en
Pages : 449

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Book Description
Big data, genomics, and quantitative approaches to network-based analysis are combining to advance the frontiers of medicine as never before. With contributions from leading experts, Network Medicine introduces this rapidly evolving field of research, which promises to revolutionize the diagnosis and treatment of human diseases.

Genetic Analysis of Complex Disease

Genetic Analysis of Complex Disease PDF Author: Jonathan L. Haines
Publisher: John Wiley & Sons
ISBN: 0471781134
Category : Science
Languages : en
Pages : 507

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Book Description
Second Edition features the latest tools for uncovering thegenetic basis of human disease The Second Edition of this landmark publication bringstogether a team of leading experts in the field to thoroughlyupdate the publication. Readers will discover the tremendousadvances made in human genetics in the seven years that haveelapsed since the First Edition. Once again, the editorshave assembled a comprehensive introduction to the strategies,designs, and methods of analysis for the discovery of genes incommon and genetically complex traits. The growing social, legal,and ethical issues surrounding the field are thoroughly examined aswell. Rather than focusing on technical details or particularmethodologies, the editors take a broader approach that emphasizesconcepts and experimental design. Readers familiar with theFirst Edition will find new and cutting-edge materialincorporated into the text: Updated presentations of bioinformatics, multiple comparisons,sample size requirements, parametric linkage analysis, case-controland family-based approaches, and genomic screening New methods for analysis of gene-gene and gene-environmentinteractions A completely rewritten and updated chapter on determininggenetic components of disease New chapters covering molecular genomic approaches such asmicroarray and SAGE analyses using single nucleotide polymorphism(SNP) and cDNA expression data, as well as quantitative trait loci(QTL) mapping The editors, two of the world's leading genetic epidemiologists,have ensured that each chapter adheres to a consistent and highstandard. Each one includes all-new discussion questions andpractical examples. Chapter summaries highlight key points, and alist of references for each chapter opens the door to furtherinvestigation of specific topics. Molecular biologists, human geneticists, geneticepidemiologists, and clinical and pharmaceutical researchers willfind the Second Edition a helpful guide to understanding thegenetic basis of human disease, with its new tools for detectingrisk factors and discovering treatment strategies.

Human Genetic Diseases

Human Genetic Diseases PDF Author: Dijana Plaseska-Karanfilska
Publisher: BoD – Books on Demand
ISBN: 9533079363
Category : Medical
Languages : en
Pages : 302

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Book Description
The genetics science is less than 150 years old, but its accomplishments have been astonishing. Genetics has become an indispensable component of almost all research in modern biology and medicine. Human genetic variation is associated with many, if not all, human diseases and disabilities. Nowadays, studies investigating any biological process, from the molecular level to the population level, use the "genetic approach" to gain understanding of that process. This book contains many diverse chapters, dealing with human genetic diseases, methods to diagnose them, novel approaches to treat them and molecular approaches and concepts to understand them. Although this book does not give a comprehensive overview of human genetic diseases, I believe that the sixteen book chapters will be a valuable resource for researchers and students in different life and medical sciences.