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

  • By Moyra Smith
  • Published Jun 9, 2011 by FT Press. Part of the FT Press Science series.
    • Copyright 2011
    • Dimensions: 6" x 9"
    • Pages: 224
    • Edition: 1st
    • Book
    • ISBN-10: 0-13-216814-6
    • ISBN-13: 978-0-13-216814-4

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  • Description
  • Reviews
  • Sample Content

Product Author Bios

Moyra Smith (Irvine, CA) is a professor of pediatrics and human genetics at the University of California, Irvine, School of Medicine. A leading scholar in her field, she is an editor of McKusick’s classic “Red Book”, Mendelian Inheritance in Man. Smith is also author of several classic monographs in the Oxford Series on Human Genetics, including: Mental Retardation and Developmental Delay: Genetic and Epigenetic Factors (2005), Translational Research in Genetics and Genomics (2008), and the forthcoming Phenotypic Variation: Exploration and Functional Genomics.

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.

Customer Reviews

3 of 3 people found the following review helpful
3.0 out of 5 stars dry, July 17, 2011
This review is from: Investigating the Human Genome: Insights into Human Variation and Disease Susceptibility (FT Press Science) (Hardcover)
Customer review from the Amazon Vine™ Program (What's this?)
As a science major, the subject is of great interest to me. But I must say the book is dry. While the book represents quite an elaborate research of the subject, its presentation lacks organization and aggregation and is very dry. If you were a laymen wanting to learn more about the subject, I would suggest you skip the book.
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2 of 2 people found the following review helpful
5.0 out of 5 stars Makes me want to become a geneticist, August 16, 2011
By 
FatChickDancing (FL United States) - See all my reviews
(VINE VOICE)   
This review is from: Investigating the Human Genome: Insights into Human Variation and Disease Susceptibility (FT Press Science) (Hardcover)
Customer review from the Amazon Vine™ Program (What's this?)
If you're not a geneticist, this book may not be for you. Still, the topic is so interesting that I couldn't help myself and went ahead and got it. When I want to learn something I can be a stubborn cuss - good thing, as this is a difficult read. Yet I feel like a miner sifting through chunks of unidentifiable information to find bits of gleaming gold revelations.

Sentences such as "He proposed that dendritic gamma wave synchrony moving through the brain constitutes a vehicle for consciousness." makes my heart go pitty-pat with excitement. This book is filled with such wonders on such important topics as Autism and Alzheimer's Disease.

If you're not a geneticist, but like me, you can decipher some of these amazing new research results, it may make you decide to become one. If I were younger (or someone would front me a mound of scholarship money) I'd love to dive into this field as it races into the future to help us solve so many problems from our past... Read more
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2 of 2 people found the following review helpful
3.0 out of 5 stars ONLY FOR THE ALREADY BRILLIANT, July 27, 2011
By 
Michael Demeritt "2bz2p" (Castaic, CA USA) - See all my reviews
(VINE VOICE)    (REAL NAME)   
This review is from: Investigating the Human Genome: Insights into Human Variation and Disease Susceptibility (FT Press Science) (Hardcover)
Customer review from the Amazon Vine™ Program (What's this?)
ONLY FOR THE ALREADY BRILLIANT

Investigating the Human Genome was initially pitched to me in this way:

"Leading medical genetics scholar Moyra Smith reviews current prospects and progress in medical genetics and genomics, arising from the growth of gene mapping and Human Genome sequencing. She addresses recent investigations into human origins, migrations, and diversity; psychiatric diseases; Alzheimer's, Parkinsonism, and ALS; protein misfolding; gene-environment interactions; mRNA; epigenetics, and much more."

As I have always had an interest in medical sciences, genetics and epigenetics intrigue me, I thought this could be a good read for a greater insight into the human genome. The preface seemed to support that feeling too; "Progress in the fields of genetics and genomics since a draft sequence of the human genome was published in 2001 is indeed a cause for optimism. However, this discovery has left some people disappointed because development of... Read more
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Online Sample Chapter

Genome Architecture and Sequence Variation in Health and Disease

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

Sample Pages

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