Human Genetic Diversity: Functional Consequences for Health and Disease

Paperback | August 30, 2009

byJulian C. Knight

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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: tounderstand 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 anddiabetes to be more clearly defined. Huge investments are being made and great advances have been achieved, but the challenges remain daunting. This book provides an authoritative overview of this topical and very rapidly advancing field of biomedical research.Human Genetic Diversity 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 structuralvariants 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. The book describes the development of linkage analysis and more recentlygenome-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.

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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: tounderstand our evolutionary origins, to defi...

Julian Knight gained a BA from the University of Cambridge in 1989, subsequently qualifying in medicine from the University of Edinburgh in 1992. Following junior hospital posts in Edinburgh and Newcastle, he did his DPhil at the Weatherall Institute of Molecular Medicine in Oxford. In 1999 he began post-doctoral research as an MRC Cl...
Format:PaperbackDimensions:432 pages, 9.69 × 7.44 × 0.68 inPublished:August 30, 2009Publisher:Oxford University PressLanguage:English

The following ISBNs are associated with this title:

ISBN - 10:0199227705

ISBN - 13:9780199227709

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Table of Contents

1. Lessons From Haemoglobin2. Finding Genes and Specific Genetic Variants Responsible for Disease3. Cytogenetics and Large Scale Structural Genomic Variation4. Submicroscopic Structural Variation in Health and Susceptibility to Disease5. Submicroscopic Structural Variation and Genomic Disorders6. Segmental Duplications and Indel Polymorphisms7. Tandem Repeats8. Mobile DNA Elements9. SNPs, HapMap and Common Disease10. Fine Scale Sequence Diversity and Signatures of Selection11. Genetics of Gene Expression12. Extreme Diversity in the Major Histocompatibility Complex13. Parasite Wars14. Human Genetic Diversity and HIV: Lessons From a War Fought on Many Fronts15. Concluding Remarks and Future DirectionsGlossaryReferencesIndex