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Millions of people live with some sort of genetically influenced disease. The impact of genetic disorders and birth defects on society is undeniable and extraordinary. Now, Encyclopedia of Genetic Disorders and Birth Defects, Second Edition offers laypeople and professionals alike the most comprehensive single-volume reference to congenital disorders and birth defects available. It contains more than 1,000 updated and revised entries listed in an easy-to-follow A-to-Z format covering everything from the most basic genetic concepts to the latest screening and diagnostic techniques. Entries on all statistically significant afflictions include Historical data regarding the condition’s original identification; Information on prognosis, prevalence and mode of inheritance; Availability of carrier screening and prenatal diagnosis; Biochemical and molecular bases; and much more. Encyclopedia of Genetic Disorders and Birth Defects, Second Edition also contains an extensive bibliography and appendixes detailing information such as birth defect statistics, regional genetics services, web resources and a directory of relevant agencies by disorder. An introductory essay, "The History of Human Genetics," provides a valuable overview of the genetics field and its role in medicine, making this encyclopedia an indispensable guide for researchers. About the Author James Wynbrandt has authored books on subjects ranging from medical science to political humor. His writing has been honored by many organizations including the International Reading Association and the Fiscal Policy Council. He has also written for many national magazines, for television, radio and the stage, as well as a variety of corporations and government agencies. He resides in New York City. Mark D. Ludman, M.D., F.R.C.P.C. is a consultant pediatrician and clinical geneticist with a particular interest in inherited metabolic diseases. He is presently an associate professor of pediatrics and an assistant professor of obstetrics and gynecology in the faculty of medicine of Dalhousie University in Halifax, Nova Scotia. He is also a senior investigator at the Atlantic Research Centre. He is certified as a specialist in both pediatrics and medical genetics. Table of Contents Forward Introductino Entries A to Z Appendixes Glossary References Index