Investigating the Human Genome: Insights into Human Variation and Disease Susceptibility
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.
- New functions for old enzymes in cancer.
Table of Contents
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
About the Author 203
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