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Genetics and medicine: recording and preserving the historical foundations

July 22, 2010

By Peter S Harper

Problems concerning human heredity, in particular those relating to inherited diseases, have been of interest to scientists and natural philosophers since well before the beginning of the 19th century, while after 1900 much of the initial evidence supporting Mendelism came from human examples. As specific disciplines, through, the science of human genetics and its related clinical field, medical genetics, have only existed since World War II. Their rapid development over the past 60 years has resulted in their becoming key parts of science and medicine.

Participants at the 2005 International Workshop on Genetics, Medicine and History meeting at Mendel's Abbey in Brno

The realisation that much of the history of this area was in danger of being lost, but that it was still possible to save it if action was taken rapidly, led to the formation of the Genetics and Medicine Historical Network ( in 2003, which has received support through a Wellcome Trust project grant.

Through its website, its newsletter and its workshops bringing historians and scientists together, the Network has helped to create an awareness of the richness of this field as a source for historical studies, by both historians and social scientists. Its programmes of locating key record sets and of recorded interviews with older workers in the field have helped to save valuable written and oral information that would otherwise have been lost, and to encourage others outside the UK to undertake similar activities. Not all historians, though, are aware of the initiative and how it might be relevant to their own work, so the notes below are intended as a summary of the Genetic and Medicine Historical Network’s activities.

International workshops on genetics, history and medicine: These alternate-year events have been extremely fruitful in bringing together workers from different disciplines. Past workshops have been held in Mendel’s Abbey in Brno, Czech Republic, and in Barcelona, Spain; the fourth was in Gothenburg, Sweden, in June 2010.

Personal scientific records: Around 20 important and substantial record sets of UK workers have been identified, in collaboration with the National Cataloguing Unit for the Archives of Contemporary Scientists (NCUACS). Some have already been catalogued and a major proposal is currently under consideration for cataloguing the others to form a comprehensive archive of British human geneticists. It is hoped that this will be facilitated by the current restructuring of NCUACS under the auspices of the Science Museum. Together with the small number of earlier records of deceased workers already archived, this will represent a substantial resource for those researching the field. Taking a prospective approach has also helped to avoid loss of material that might otherwise have been discarded.

Human Genetics Historical Library: Unique in the world, this aims to be a definitive collection of books on or relating to human and medical genetics and has already reached almost 3000 volumes, based entirely on donations and bequests. It is curated by Cardiff University Special Collections and Archives (, and Wellcome Trust funding has allowed cataloguing of the initial 1500 books, with full information available online ( The Library has helped to save a series of important individual and institutional collections from disposal or destruction. Digitisation of the entire Library (subject to copyright) is under consideration.

The Library has close links with other important collections containing numbers of books on genetics, such as the Wellcome Library and the John Innes Centre, and is also linking with collections in continental Europe to increase its cover of languages other than English.

Interviews with medical geneticists: A series of 70 recorded interviews has been carried out over the past five years with prominent older workers in the field, both scientists and clinicians, and transcripts are being prepared. It is planned that full edited transcripts and audioclips will be placed on the Network website, but this has been delayed pending further funding. The value of the interviews is poignantly shown by the fact that 12 of the workers interviewed have subsequently died.

The core group: The activities noted above have involved a considerable number of people worldwide, but the core project has been coordinated at Cardiff University by Peter Harper, University Research Professor (Emeritus) in Human Genetics, Peter Keelan, Head of Cardiff University Special Collections, and Joanne Richards, Coordinator of the Genetics and Medicine Historical Network, with the assistance of Karen Pierce of Cardiff University Libraries and in close cooperation with Dr Tim Powell of NCUACS.

Peter S Harper is University Research Professor (Emeritus) in Human Genetics, Cardiff University.

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