The secrets of our genetic heritage are finally being unlocked. The massive scientific effort to sequence the human genome is in fact just the beginning of a long journey as the extraordinary genetic diversity that exists between individuals becomes clear. Work in this field promises much: to understand our evolutionary origins, to define us as individuals, to predict our risk of disease and to more effectively understand, treat and prevent illness. Contemporary genetic research is allowing the basis of both rare inherited disorders and common multifactorial diseases like asthma and diabetes to be more clearly defined. Huge investments are being made and great advances have been achieved, but the challenges remain daunting.
Human Genetic Diversity provides an authoritative overview of this topical and very rapidly advancing field of biomedical research. It describes the major classes of genetic variation and their functional consequences. A combination of cutting-edge research and landmark historical studies illustrate developments in the field, the rationale for current studies and likely future directions. Major structural variants at a chromosomal level are described, as well as copy number variation and sequence level genetic diversity. Evidence of selective pressures in human populations and insights into human evolution are illustrated. Human Genetic Diversity describes the development of linkage analysis and more recently genome-wide association studies to define the genetic basis of disease, current approaches to defining functional causative variants and the emerging fields of pharmacogenomics and individualised medicine.
1: Lessons From Haemoglobin
2: Finding Genes and Specific Genetic Variants Responsible for Disease
3: Cytogenetics and Large Scale Structural Genomic Variation
4: Submicroscopic Structural Variation in Health and Susceptibility to Disease
5: Submicroscopic Structural Variation and Genomic Disorders
6: Segmental Duplications and Indel Polymorphisms
7: Tandem Repeats
8: Mobile DNA Elements
9: SNPs, HapMap and Common Disease
10: Fine Scale Sequence Diversity and Signatures of Selection
11: Genetics of Gene Expression
12: Extreme Diversity in the Major Histocompatibility Complex
13: Parasite Wars
14: Human Genetic Diversity and HIV: Lessons From a War Fought on Many Fronts
15: Concluding Remarks and Future Directions
"The excellent illustrations, grey coloured boxes containing key information, summaries at the end of chapters and a good glossary all serve to make a difficult subject more accessible [...] This is an impressive single author book, providing a detailed summary of human genetics"
- BMA Medical Book Competition 2010