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

By Moyra Smith

Published by FT Press

Published Date: Jun 9, 2011


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.

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