Human Genetic Diversity Functional Consequences for Health and Disease

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.

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.