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

This is the Safari online edition of the printed book.

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

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