Investigating the Human Genome: Insights into Human Variation and Disease Susceptibility [NOOK Book]

Overview

Leading medical genetics scholar Moyra Smith reviews current and recent work in genetics and genomics to assess progress in understanding human variation and the pathogenesis of common and rare diseases in which genetics plays a role. Smith provides an exceptional overview of the most important biomedical progress arising from the greatly increased genetic information base generated by gene mapping and the sequencing of the complete Human Genome.

This book addresses into a wide ...

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Investigating the Human Genome: Insights into Human Variation and Disease Susceptibility

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Overview

Leading medical genetics scholar Moyra Smith reviews current and recent work in genetics and genomics to assess progress in understanding human variation and the pathogenesis of common and rare diseases in which genetics plays a role. Smith provides an exceptional overview of the most important biomedical progress arising from the greatly increased genetic information base generated by gene mapping and the sequencing of the complete Human Genome.

This book addresses into a wide spectrum of topics associated with human genetics and genomics, including:

  • Human origins; migrations and human population diversity gained though genomic analyses.
  • The complexities of psychiatric diseases that are influenced by genetics.
  • The pathogenesis of late-onset neurological diseases such as Alzheimer’s, Parkinsonism, and ALS.
  • Key aspects of protein misfolding.
  • Gene-environment interactions in DNA damage and repair and DNA instability.
  • Micro RNAs and mRNA translation.
  • Epigenetics.
  • New functions for old enzymes in cancer.
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Editorial Reviews

Publishers Weekly
Primarily written to update professionals already grounded in the subject, this brief review of cutting-edge research in the field of genetics and genomics provides everything from a broad overview of structural variations in the DNA sequence to specifics about diseases such as Alzheimer's. Dr. Smith (Translational Research in Genetics and Genomics), a professor of pediatrics and human genetics at the University of California-Irvine's School of Medicine, suggests that genomics will play an increasingly important role in clinical practice, by allowing physicians to adjust care according to a patient's individual genome, rather than relying solely upon family history or other information. This would be especially useful in cases of brain disease where tissue samples are not readily available. Personal genomic information can also help predict a patient's sensitivity to certain pharmaceuticals. Not only is knowledge about the human genome already playing a part in the development of new cures, it can be relevant, Smith writes, in predicting the course of a degenerative disease in order to better manage a patient's care. While the book may not be pitched for the average reader, one would certainly hope that this information is widely circulated among physicians and medical researchers.
(c) Copyright PWxyz, LLC. All rights reserved.
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Product Details

  • ISBN-13: 9780132172844
  • Publisher: Pearson Education
  • Publication date: 6/22/2011
  • Series: FT Press Science
  • Sold by: Barnes & Noble
  • Format: eBook
  • Edition number: 1
  • Pages: 256
  • File size: 452 KB

Meet the Author

Moyra Smith is Professor of Pediatrics and Human Genetics at the School of Medicine at University of California, Irvine. A leading scholar in her field, she has served as an editor of McKusick’s classic “Red Book,” Mendelian Inheritance in Man. Smith’s monographs in the Oxford Series on Human Genetics include Mental Retardation and Developmental Delay: Genetic and Epigenetic Factors (2005), Translational Research in Genetics and Genomics (2008), and Phenotypic Variation: Exploration and Functional Genomics (2011).
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Table of Contents

Preface vii

Chapter 1 Genome Architecture and Sequence Variation in Health and Disease 1

Chapter 2 Genes and Transcripts: Insight into Regulation at Different Levels 23

Chapter 3 Epigenetics: Modifications of DNA, Chromatin, and Gene Expression 37

Chapter 4 Gene Environment Interactions 53

Chapter 5 Pathways, Phenotypes, and Phenocopies 67

Chapter 6 Dynamic Function, Synaptic Activity, and Plasticity 81

Chapter 7 Late Onset Neurodegenerative Diseases 101

Chapter 8 Genes and Genomes in Cancer: Targeted Therapies 131

Chapter 9 Functional Genomics: Personalized Medicine and Therapeutics 153

Epilogue 167

References 171

About the Author 203

Index 205

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