Written by 30 authors from all over the world, this book provides a unique overview of exciting discoveries and surprising developments in human genetics over the last 50 years. The individual contributions, based on seven international workshops on the history of human genetics, cover a diverse range of topics, including the early years of the discipline, gene mapping and diagnostics. Further, they discuss the status quo of human genetics in different countries and highlight the value of genetic counseling as an important subfield of medical genetics.

Advances in genetics over the past 50 years have been 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 or 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.

Written by 30 authors from all over the world, this book provides a unique overview of exciting discoveries and surprising developments in human genetics over the last 50 years. The individual contributions, based on seven international workshops on the history of human genetics, cover a diverse range of topics, including the early years of the discipline, gene mapping and diagnostics. Further, they discuss the status quo of human genetics in different countries and highlight the value of genetic counseling as an important subfield of medical genetics.

An eminent geneticist, veteran author, OMMG Series Editor, and noted archivist, Peter Harper presents a lively account of how our ideas and knowledge about human genetics have developed over the past century from the perspective of someone inside the field with a deep interest in its historical aspects. Dr. Harper has researched the history of genetics and has had personal contact with a host of key figures whose memories and experiences extend back 50 years, and he has interviewed and recorded conversations with many of these important geneticists. Thus, rather than being a conventional history, this book transmits the essence of the ideas and the people involved and how they interacted in advancing- and sometimes retarding- the field. From the origins of human genetics; through the contributions of Darwin, Mendel, and other giants; the identification of the first human chromosome abnormalities; and up through the completion of the Human Genome project, this Short History is written in the author's characteristic clear and personal style, which appeals to geneticists and to all those interested in the story of human genetics.

Das fur den Praktiker geschriebene Handbuch umreisst in einem I. Teil die allgemeinen genetischen Aspekte der humangenetischen Beratung. Der II. Teil wendet sich den einzelnen Organsystemen des menschlichen Koerpers zu, wobei nicht nur die dort auftretenden Erbkrankheiten behandelt, sondern auch ihre Relevanz fur das allgemeine Krankheitsgeschehen und die Moeglichkeiten ihrer Prophylaxe dargestellt werden. In einem abschliessenden Abschnitt wird die Bedeutung der humangenetischen Beratung fur das allgemeine Gesundheitsgeschehen umrissen. Die Besonderheiten des Buches liegen in der ausfuhrlichen Darstellung der heute bekannten erbbedingten Anomalien der menschlichen Organsysteme, ihrer populationsgenetischen Haufigkeiten sowie der Hilfestellung fur die AErzte in den Beratungsstellen. Die UEbersetzung aus der 2. Auflage des HARPER ins Deutsche berucksichtigt die in der Zwischenzeit gewachsenen Erkenntnisse, die von den Bearbeitern eingebaut worden sind.