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

Front Cover
FT Press, Jun 8, 2011 - Medical - 256 pages
0 Reviews

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.

What people are saying - Write a review

We haven't found any reviews in the usual places.


insights into regulation
modifications of DNA chromatin
Geneenvironment interactions
Lateonset neurodegenerative diseases
personalized medicine
About the Author

Other editions - View all

Common terms and phrases

About the author (2011)

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).

Bibliographic information