This book takes the latest in genetic and molecular research and translates it into the clinical arena, explaining how gene expression and regulation impacts on disease processes. Written by experts in their field, this text demystifies genetics and molecular medicine and places it in the context of everyday diseases. List of Contributors vii Foreword xiii Section 1: Introductory Principles Genes and their expression 3(17) Dirk-Jan Kleinjan Epigenetic modification of chromatin 20(24) Donncha Dunican Sari Pennings Richard Meehan Population genetics and disease 44(15) Donald F. Conrad Jonathan K. Pritchard Mapping common disease genes 59(21) Naomi R. Wray Peter M. Visscher Population diversity, genomes and disease 80(12) Gianpiero L. Cavalleri David B. Goldstein Study design in mapping complex disease traits 92(21) Harry Campbell Igor Rudan Diseases of protein misfolding 113(19) Christopher M. Dobson Aging and disease 132(10) Thomas T. Perls The MHC paradigm: genetic variation and complex disease 142(10) Adrian P. Kelly John Trowsdale Lessons from single gene disorders 152(12) Nicholas D. Hastie Environment and disease 164(12) A.J. McMichael K. B. G. Dear Contemporary ethico-legal issues in genetics 176(25) Renate Gertz Shawn Harmon Geoffrey Pradella Section 2: Common Medical Disorders Developmental disorders 201(12) Stephen P. Robertson Andrew O. M. Wilkie Genes, environment and cancer 213(11) D. Timothy Bishop The polygenic basis of breast cancer 224(9) Paul D. P. Pharoah Bruce A.J. Ponder TP53: A master gene in normal and tumor suppression 233(12) Pierre Hainaut Genetics of colorectal cancer 245(23) Susan M. Farrington Malcolm G. Ounlop Genetics of autoimmune disease 268(9) John I. Bell Lars Fugger Susceptibility to infectious diseases 277(25) Andrew J. Walley Adrian V. S. Hill Inflammatory bowel diseases 302(14) Jean-Pierre Hugot Genetic anemias 316(12) W. G. Wood O. R. Higgs Genetics of chronic disease: obesity 328(16) I. Sadaf Farooqi Stephen O'Rahilly Type 2 diabetes mellitus 344(15) Mark I. McCarthy Genetics of coronary heart disease 359(18) Rossi Naoumova Stuart A. Cook Paul Cook Timothy J. Aitman Genetics of hypertension 377(14) B. Keavney M. Lathrop Obstructive pulmonary disease 391(15) Bipen 0. Patel David A. Lomas Skeletal disorders 406(21) Robert A. Colbert The genetics of common skin diseases 427(12) Jonathan Rees Molecular genetics of Alzheimer's disease and other adult-onset dementias 439(15) P. H. St George-Hyslop Major psychiatric disorders in adult life 454(15) Amanda Elkin Sridevi Kalidindi Kopal Tandon Peter McGuffin Speech and language disorders 469(19) Gabrielle Barnby Anthony J. Monaco Common forms of visual handicap 488(17) Alan Wright Genetic and environmental influences on hearing impairment 505(11) Karen P. Steel Pharmacogenomics: clinical applications 516(13) Gillian Smith Mark Chamberlain C. Roland Wolf Index 529