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ESHG Report

First international workshop on genetics, medicine and history.

Birmingham, 3rd May 2003 (in conjunction with European Society for Human Genetics Congress)

A total of 53 people attended the Workshop, organised by the Genetics and Medicine Historical Network as part of its Wellcome Trust supported activities, with a specific grant from Wellcome supporting the Workshop itself. Those attending came from Genetics, History of Medicine and from those involved in Public Understanding of Science; most, but not all were attending the main European Human Genetics Congress and the holding of the Workshop in the same venue enhanced the contact.

The programme consisted of two parts: in the morning section there were three invited presentations; while the afternoon was devoted to the Historical Network itself.

The initial presentation was given by Professor Maj Hulten (University of Warwick), who described the original discovery of the correct human chromosome number (46) by Tjio and Levan in December 1955. As a person working at the time in the Institute of Genetics, in Lund, Sweden, where the discovery occurred, Professor Hulten was able to give a vivid description of the event and its background. She also reviewed the technological advances in cytogenetics that made the discovery possible, and discussed previous ‘near misses’ that could have made it happen earlier. Of considerable interest was that some of these earlier studies had actually shown 46 to be the correct number but had felt constrained to interpret their data differently as a result of the general acceptance of 48 being correct.

Professor John Edwards (Oxford) gave a stimulating account of ‘200 years in genetics in Birmingham’, tracing its origins from Erasmus Darwin and the Lunar Society during the 18th century enlightenment period, up to more recent contributions in the mid 20th century of Lancelot Hogben, McKeown and others.

Professor Peter Harper (Cardiff) spoke on ‘Julia Bell and the Treasury of Human Inheritance’, outlining her life and career, and relating this to the monumental early human genetics work, The Treasury of Human Inheritance, founded by Francis Galton and Karl Pearson. He showed how Julia Bell became the key person in this work and how her rigorous mathematical and clinical training made it a source of major original findings in the field, still relevant today.

In the afternoon session, the Genetics and Medical Historical Network was introduced by Peter Harper, after which Dr Anita Shaw (Techniquest, Cardiff) gave a demonstration of the newly established website, developed by Jeff Alderman, showing how those interested could contribute material to develop this further. A valuable discussion followed, which allowed a series of key points to emerge, including:

  • The international nature and value of the Network
  • The need to avoid editing or alteration of contributed material as far as possible
  • To concentrate initially on documenting and raising awareness of existing material before moving to more ambitious projects
  • To remain an informal grouping at present, not formally affiliated to any specific professional body

A number of participants indicated their willingness to act as initiators for specific countries and fields of human genetics and to be involved as part of an international steering group alongside the specific Wellcome Grant group.

Finally, strong support was given to holding further workshops on historical aspects of genetics and medicine, with the next venue proposed as Toronto, in the form of a satellite meeting of the American Society for Human Genetics in October 2004. It is hoped that this will help to stimulate American interest in both the historical Network and historical aspects of the field generally.

In the days following the Workshop, a poster giving details of the Genetics and Medicine Historical Workshop at the main European Society for Human Genetics meeting , while Peter Harper was awarded the Society’s annual prize, giving his plenary lecture resulting from this on the topic of ‘Preserving the Heritage of Human Genetics’.

Peter Harper (May 2003)