Papers of Sir Peter S. Harper (1939-), geneticist

Scope and Content

An archive of Peter Harper's email and documentation relating to the history of human and medical genetics, reflecting the fact that this became progressively, and from 2004 almost exclusively, the principal area of Harper's research.

Particularly significant email correspondence has been printed out, but this is otherwise a born digital archive. Files are stored and backed up on secure University networked drives, and publically available files can be retrieved for access on request. Later paper deposits are expected.

The material is arranged as follows:


Email has been the method of correspondence used by Harper since 2002; since he has conducted virtually all correspondence since this date himself, without any secretarial involvement, the files archived here represent almost all letters written by him. There is an initial gap up to mid 2003, owing to a change in the University email system at that time. A small amount of correspondence has been hand-written.

The policy on retaining email was to delete trivia, 'spam' and group emails at the time, but not to delete correspondence thereafter, with the result that there is extensive correspondence relating to all the topics covered primarily by other files in the archive. In the first years 'historical' and 'non-historical' topics were kept in separate folders, but as the 'historical' correspondence rapidly became preponderant, this separation was discontinued.

The files record correspondence both by date and by person, the latter allowing viewing of correspondence with particular individuals, often over a long period. 'Sent' and 'received' mail is also recorded in different files. Since no attempt was made to delete or edit correspondence, there is extensive overlap and duplication.

For a series of especially relevant correspondents, emails between 2003 and 2010 have been printed and placed in the paper archive. However, very little paper correspondence prior to 2002 has been preserved.

An important exception relates to clinical correspondence forming part of Harper’s medical genetics practice, amounting to around half his working time between 1971 and 2004, and preserved in the Medical Genetics Service records. Although constrained by confidentiality, it is hoped to make a sample of this correspondence available in anonymised form as part of a subsequent paper deposit. This could be of interest in illustrating the advances in the field over a period of more than 30 years.


Articles written by PSH

This section contains final and draft versions of published papers, mostly on historical aspects of medical genetics; the few publications on non-historical topics are under a separate heading, as are articles still at draft stage. Book reviews, again mostly on historical topics, are also placed in this file, as is a series of article written for the 'Perspectives' section of the journal Human Genetics, edited by PSH - some written by PSH, some by others.

Books written by PSH

This section covers books written after 2002, both final versions and drafts, as well as associated material. Most books relate to the history of medical genetics, but two non-historical books are included, Practical Genetic Counselling (the 2010 7th and final edition) and Myotonic Dystrophy, the Facts. There is also the electronic version of an autobiographical memoir, 'Some fragments from my life', and a draft play on the destruction of Russian genetics. The section contains a list of books written by Harper (15 in total) and a reference list of papers on the history of genetics. Copies of the actual books are placed in the Human Genetics Historical Library in Cardiff.

Genetics in various countries

The main items concern material on genetics in Russia, including contemporary notes from a visit by Harper, as well as historical material. Russia is also the subject of an extensive paper file, still in use, as is the subject of medical genetics in France.


These files consist mainly of images from various sources, used for Harper's book 'First Years of Human Chromosomes' and for his paper on the discovery of the human chromosome number in Lund.

Genetic diseases

This file contains images on the disorders Huntington's disease and myotonic dystrophy.


These files do not represent any specific studies related to eugenics, but various material encountered during other work, in particular involvement with the China 'eugenics law' and items involving Nazi Germany in relation to Huntington's disease. See also the chapters on eugenics in the books 'Huntington's Disease' and 'A Short History of Medical Genetics'.


This section contains practical details relating to the Wellcome Trust grant and other financial aspects of the work.

Genetics and Insurance

During the 1990s Harper was extensively involved with the debate over the use of genetic test information in life and health insurance. Correspondence and other documents are contained in an extensive paper file which will be placed in the paper archive in a later deposit. The only item filed electronically is a more recent telephone interview.

Genetics and Medicine Historical Network

The main item in this section is the series of 15 newsletters issued by the Network between 2003 and 2011, which illustrate the progress and evolution of the initiative. Much information on the Network can also be found under other items in the archive and in the email correspondence.

Human Genetics Historical Library

This proved to be one of the most successful and extensive aspects of the Genetics and Medicine Historical Network initiative, with the book collection comprising well over 3000 volumes by 2012. The archive records the various listings, the minutes of meetings of the steering group set up to oversee it, and the development of curation of the collection as part of Cardiff University Special Collections and Archives. Much of this activity is also recorded on the website.


This section contains images from a variety of sources, in particular books, which have not yet been adequately titled or sorted. Numerous other images are stored on CDs and do not appear here. They likewise still require full sorting.

Recorded Interviews

Archived here are details of the series of recorded interviews with geneticists carried out by Harper between 2003 and 2011. (See explanatory note for the section). All stages are documented, from the original sound files, through successive transcripts, to the final edited version appearing on the website for most interviews.

Lectures and presentations

This section contains the Powerpoint slides of a variety of invited presentations and student lectures, almost all on various aspects of the history of medical genetics. None are accompanied by any written text, this being rarely used by Harper in any of his lectures.


The section contains notes, documents and images relating to a range of workers in medical and more general genetics, most but not all contemporary, and overlapping with those listed under recorded interviews'. There is also an extensive series of paper files on these and other individuals. The material has been used in the various books and articles written by Harper.

Records sets

This section contains only a list of potentially important records sets of individual workers and of Societies and Institutions involved with genetics. The list was compiled mainly for a presentation to Wellcome Trust and for their genetics history initiative. More information on this topic can be found on the website. The initiative linked closely with the work of the former National Cataloguing Unit for the Archives of Contemporary Scientists (NCUACS), Bath University, and its senior archivist Dr Timothy Powell.

Societies involved with human genetics

Although a more extensive paper file exists on this topic, the only item here is the series of scanned pages from the original minute-book of the UK Genetical Society showing original members and officers.

Wellcome Trust

Wellcome Trust has been the principal funder of most of the activities covered by this archive. Documented here are a series of formal grant applications (not all successful), reports to the Trust and minutes of the Advisory Group set up to monitor the principal project grant. The 'scientific sections' of the grant applications contain considerable information on the proposed and in progress aspects of different elements of the work

International workshops

This successful series of five workshops (the fifth still to be held in 2012) was developed to fulfil one of the primary aims of the initiative, which was to bring together historians and archivists with geneticists and thus to foster closer links and collaborations. The archive details both the contents and the progress made.

The first workshop, held in Birmingham UK in 2003, was a single day meeting, attached, like the others, to the annual meeting of the European Society of Medical Genetics and funded by Wellcome Trust. The second, in 2005, was held in Mendel’s Abbey St. Thomas, Brno, Czech Republic, the third in Barcelona and the fourth in Gothenburg. Taken as a whole, this section of the archive gives a rather complete picture of the programmes, abstracts and participants.

Additional note

This archive of electronic records represents almost 10 years of work (2002 to end of 2011) by Peter Harper (PSH) and colleagues on the history of human genetics, supported by Cardiff University and the Wales Gene Park, and funded principally by a series of grants from Wellcome Trust.

Part of the archive can be regarded as a more personal record of PSH's historical research.

Some aspects of the work are still in progress; it is planned to place these files, both electronic and paper, in the archive as later additions.

In the electronic archive, some files appear in more than one place.

Administrative / Biographical History

Peter Stanley Harper was born 28th April, 1939, at Barnstaple, Devon, UK. His father was a doctor and his mother a French scholar before her marriage. From an early age he had a strong interest in Natural History, in particular insects. After schooling in Devon he attended Exeter College, Oxford, on an open scholarship in Medicine; while his first degree (1961) was in Physiology, he spent considerable time studying Zoology, in which the University had a strong base in evolution and genetics at the time.

After clinical studies at St Thomas' Hospital, London, he qualified in Medicine in 1964 and decided to combine Medicine and Genetics. After clinical posts in Paediatrics, Neurology and General Internal Medicine, He went to Liverpool in 1967 to work with Professor (later Sir) Cyril Clarke, at that time one of the very few people in Britain pioneering the field of Genetics in Medicine, and studied inherited oesophageal cancer. At this time (1968) he married Elaine (nee Abel).

Clarke had a close link with Dr Victor McKusick in Baltimore and in 1969 Harper went as Research Fellow in Medical Genetics at Johns Hopkins School of Medicine. Here, among a range of projects, he made a genetic linkage study of the disorder myotonic dystrophy, which led to a series of publications and to his DM (Oxford) thesis, accepted in 1972.

In late 1971 he accepted a post as Lecturer in Medical Genetics at the University of Wales College of Medicine, Cardiff (subsequently Senior Lecturer and Reader) where he progressively developed a broadly based Medical Genetics department, initially as a section of the Department of Medicine, and coupled to a clinical genetics service which grew to cover the whole of Wales, the unit moving to a new purpose built facility in 1985, by which time he had been appointed Professor of Medical Genetics. His 1981 book Practical Genetic Counselling (7th edition 2010), remains the most widely used work in this field.

Harper's research over this time continued to be based principally in the field of inherited neurological disorders, notably myotonic and Duchenne muscular dystrophies and Huntington's disease. Initial clinical and epidemiological studies of the disorders were strongly boosted by renewed gene mapping projects when the discovery of DNA polymorphisms made molecular genetic analysis possible.

A fruitful collaboration with Robert Williamson and Kay Davies, then at St Mary's Hospital, London, was followed by the establishment of a molecular genetics laboratory in Cardiff under Duncan Shaw, which played a major role in the isolation of the genes for both myotonic dystrophy and Huntington's disease in 1992-3. The Cardiff lab was also one of the first to use the new molecular techniques as part of medical genetics services for the diagnosis and prediction of neurogenetic disorders.

By the time of Harper's formal retirement from the Medical Genetics Chair in 2004, the Cardiff unit had become one of the foremost Medical Genetics departments in Britain and world-wide. A little before this he had become concerned that the history of Medical Genetics was receiving almost no attention and was in danger of being lost, as its founders in Britain and elsewhere retired or died. To address this he set up in 2002 the Genetics and Medicine Historical Network, with its own website (

Over the past decade this initiative has undertaken a wide range of projects, many with the support of Wellcome Trust, and which form the substance of the present archive, since few records survive from before 2002. The activities documented include the Network's website and electronic newsletter; a series of recorded interviews with older human and medical geneticists; international workshops to bring together interested historians, archivists and geneticists; and the Human Genetics Historical Library, curated by Cardiff University Special Collections and Archives and now containing over 3000 volumes. Key records sets of workers in the field have also been identified and preserved for detailed cataloguing by archivists, while there has been close collaboration with Professor Tilli Tansey, London, in the holding of Witness Seminars on genetic themes.

The initiative continues and has gained momentum over the decade, so that now a considerable proportion of both the written and oral history of human and medical genetics has been preserved, while there is a small but active and growing body of historians internationally interested in and aware of the importance of medical genetics and the wider role of genetics in medical research and services.

Harper's own contribution to these activities also includes three books on the field: Landmarks in Medical Genetics (2004, an edited collection of classic papers); First Years of Human Chromosomes (2006); and A Short History of Medical Genetics (2008).

From 2004 Peter Harper has been University Research Professor in Human Genetics at Cardiff University (Emeritus since 2008). He was made a CBE in 1996 for services to Medical Genetics and in 2004 was awarded a knighthood for services to Medicine.

Access Information

Access is available by prior appointment, during 9am-5pm, Monday to Friday.

Physical Characteristics and/or Technical Requirements