Landmarks in Medical Genetics: Classic Papers with Commentaries Peter S Harper Oxford University Press, Oxford, UK; 2004 .307 pp., hardcover, £49.50, ISBN 0195159306

Reviewed by N Haites and L Lyall

It comes as no surprise that Peter Harper has produced yet another classic book to inform, excite and illustrate the place of Human Genetics in the context of its history. The chapters are very well illustrated, giving us an insight into the personality and situation of the discoverer and link this to their discovery. The histories are written in a personal way, often demonstrating Peter Harper's own personal knowledge of the discoverer and their links with others in the field.

With the advances that occur daily in medical genetics, it is often easy to overlook the pioneers in this field and concentrate on current developments. This marvellous compendium of original papers with modern commentaries, however, provides an excellent overview of the evolution of this speciality. It highlights the huge advances that occurred in the late 19th and early 20th centuries.

The vast amount of information contained within this book will be of interest to all from medical student to genetics expert, and I am sure that they will find this piece of work both informative and interesting.

It is well laid out in chronological order, starting with the very first descriptions of well-known genetic diseases and travelling through the discoveries of mendelian inheritance, gene mapping and onto more recent issues. Each original paper is preceded by a commentary which puts a modern context to each subject, thereby improving the readability of the papers. Without this it would be merely a collection of papers. The decision to translate the relevant papers into English makes this book more appealing.

The first section on classical descriptions describes a wide range of well-known genetic disorders. It must have been difficult to know which disorders to include in this section, but the author has achieved a balance between uniqueness and variety. This chapter highlights the knowledge and awareness of genetic disease even in the early and mid-1900s.

The section on the discovery of mendelian inheritance was thorough, but some of the diagrams are difficult to follow probably due to the fact that they have been retained in their original format.

Human chromosomes and their disorders is the third section, and it uses disorders you would expect, such as Down's Syndrome and Turner's Syndrome, to describe the relatively recent event of chromosome mapping.

The second last section diffuses the layman's opinion that genetics is a descriptive subject only useful to scientists and doctors. It highlights where the realisation of a genetic disorder arising has resulted in a treatment advance. It uses examples such as rhesus isoimmunisation in which the knowledge has almost obliterated the serious unexpected cases.

Overall, this book provides a very readable history of the speciality of medical genetics and will be enjoyed by all who read it.