Human Genetic Diversity: Functional Consequences for Health and Disease

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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 is yielding profound insights into the wider implications for understanding biology, human health and history. It 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. Genetics can help us understand both rare inherited disorders and common multifactorial disease like asthma, heart disease and diabetes. Huge investments are being made and great advances have been achived, 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 provides a concise, authoritative overview of human genetic diversity. It documents the insights that human genetics have brought to an understanding of human evolution and history, focusing on the implications of human genetic diversity for disease susceptibility and treatment. The book describes the genetic basis for diseases such as HIV, AIDS, Crohn's disease, asthma and type I diabetes. It also examines the emerging field of pharmacogenomics and individualized medicine.

Human genetic variation has implications across a broad range of disciplines (both biological and medical) and this text neatly consolidates work in diverse fields to highlight common themes and principles. An accessible style and the extensive use of illustrations promote its relevance to a broad audience ranging from those interested in human and population genetics to molecular biologists, evolutionary biologists, biological anthropologists and individuals working in the health sciences and clinical medicine.

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Product Details

  • ISBN-13: 9780199227693
  • Publisher: Oxford University Press
  • Publication date: 10/4/2009
  • Pages: 432
  • Product dimensions: 7.60 (w) x 9.80 (h) x 1.20 (d)

Meet the Author

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 Clinician Scientist in Oxford and Harvard. He has been a Wellcome Trust Senior Research Fellow in Clinical Science at the Wellcome Trust Centre for Human Genetics in Oxford since 2005 and is an honorary Consultant in Internal Medicine at the John Radcliffe Hospital. He was elected fellow of the Royal College of Physicians in 2007 and was awarded the Linacre Medal by the Royal College of Physicians in 2008. His current research programme investigates the functional consequences of genetic variation for genetic variation for gene regulation with a particular interest in immune and infectious disease.

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Table of Contents

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

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