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"Easy to use, and useful when kept close at hand in the room where you work. The book is a pleasure to read: the style elegant and authoritative.' Lancet '...this book is a wonderful reference to enable primary physicians to be informed about their patients.' Annals of Internal Medicine Universally used across the world by genetic counsellors, medical geneticists and clinicians alike, Harper's Practical Genetic Counselling has established itself as the essential guide to counselling those at risk from inherited disorders. Increasingly, common disorders are known to have a genetic component and this book provides invaluable and up to date guidance through the profusion of new information in this area and the associated psychosocial and ethical considerations and concerns. Within its established, tried and trusted framework, the book contains new chapters on: laboratory methods, new genetic sequencing techniques and the applications of genome-wide SNP association studies, genetic susceptibility, cross cultural aspects and the genetic counselling process. It has expand chapters on genetic screening and screening of newborn, treatment techniques and rational approaches to treatment, non-Mendelian inheritance, free fetal DNA in prenatal screening and diagnosis. Key features: - Fully updated to provide the very latest information when in a busy consulting room or clinic - Clear and authoritative advice applicable to everyday clinical practice - Reflects the rapid development of knowledge in this area, including the implications of the human genome project and related technology The eighth edition of this popular, best selling text continues to be an essential source of reference for trainee and practitioner genetic counsellors, medical geneticists and clinicians. Also it provides valuable background for specialist nurses, counsellors, social scientists, ethicists as well as genetics laboratory staff"--

A database of the frequency of human inherited disorders is being established for use in a clinical context, in medical research, for epidemiological studies, and in the planning of genetic services. Each entry includes the disease name categorized by organ system, an Online Mendelian Inheritance in Man (OMIM) number, the mode of inheritance, the population origin, a prevalence and/or incidence rate and a literature reference. The Frequency of Inherited Disorders Database (FIDD) currently contains 1,580 entries relating to 280 different Mendelian disorders. FIDD will be prospectively maintained and can be accessed at http://www.uwcm.ac.uk/uwcm/mg/fidd/. A more refined and systematic literature search that will serve to expand the size, scope and scale of the database is currently in progress. The coverage of neurological and neuromuscular disorders is however considered to be nearly complete. In this first description of FIDD, Huntington disease was used to illustrate the structure and scope of the database as well as its potential scientific utility. A total of 100 published articles on the prevalence of Huntington disease were appraised. Prevalence and incidence rates varied between different ethnic groups and between different countries. Possible reasons for this variation are discussed.