Advances in genetics over the past 50 years have dramatically changed the understanding and management of inherited disorders, and are beginning to have a major impact on the practice of medicine overall. The rapidity of these advances means that clinicians and scientists in the field are often unfamiliar with the key research that has led to many developments that now are accepted and familiar. Few have time to search for the original papers, which are scattered and often difficult to obtain. This collection has been edited mainly for medical geneticists and genetics researchers who wish to learn more about how their field originated and developed. Brief, clearly written commentaries on each paper and section place the work in its current context and serve to unify the different parts of the book. They also help make it a readable and authoritative source of information. The papers chosen fall into several groups. First are classic descriptions of important genetic disorders, often from the pre-mendelian era. The following sections deal with the definition of human mendelian inheritance, the origins of human cytogenetics, the early development of the human gene map and the transition from biochemical genetics to human molecular genetics, the relatively recent studies that have shown how mendelian principles are increasingly modifiable, and finally advances in the treatment and management of genetic disorders, which are placed in their social context.

A collection of key papers in the evolution of medical genetics

About the Author
Peter S. Harper is Professor of Medical Genetics at the University of Wales College of Medicine, Cardiff, UK. Dr Harper's principal research over the past 30 years has been in the areas of Huntington's disease, myotonic dystrophy, and other neuromuscular diseases. He has applied the science of genetics to the delivery of effective and socially aware services for families with genetic disorders. Dr Harper is author of Practical Genetic Counselling, currently in its Fifth Edition, as well as co-author of Huntington's Disease (Third Edition, Oxford University Press, 2002). He is also a series co-editor for the Oxford Monographs on Medical Genetics.

Reviews
"Landmarks in Medical Genetics, edited by Peter S. Harper, is an excellent book that should be mandatory reading not only for all trainees in genetics but for all fellows embarking on a career in academic medicine. The articles collected in this text are a testament to thoughtful observation and carefull description. ...I believe that this book is itself a landmark, an excellent historical text that will hopefully spawn a series of similar collections, each focusing on areas on which this one merely touches." --JAMA "...this is a refreshing book with original classic papers reproduced in modern format each accompanied by an insightful commentary placing the paper in context...The clarity of the modern transcription of the texts gives an easy read and the book is neatly split into eight sections...Harper presents a vivid and gripping series of papers, which should be read by all clinicians and scientists in genetics to get an idea of how the specialty has evolved with time. ...Every genetics department should have a copy of this book and it should be compulsory reading for new trainees."--European Journal of Human Genetics



Book Information
ISBN 9780195159301
Author Peter S. Harper
Format Hardback
Page Count 336
Imprint Oxford University Press Inc
Publisher Oxford University Press Inc
Weight(grams) 1g
Dimensions(mm) 224mm * 282mm * 28mm