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Genetics & Health GENETICS & HEALTH Compilation of edited interviews conducted by the History of Modern Biomedicine Research Group, Queen Mary University of London Edited by E M Tansey and A Zarros Volume 2 2017 ©The Trustee of the Wellcome Trust, London, 2017 First published by Queen Mary University of London, 2017 The History of Modern Biomedicine Research Group is funded by the Wellcome Trust, which is a registered charity, no. 210183. ISBN 978 1 91019 5253 All volumes are freely available online at www.histmodbiomed.org Please cite as: Tansey E M, Zarros A. (eds) (2017) Genetics & Health. Voices of Modern Biomedicine, vol. 2. London: Queen Mary University of London. CONTENTS The History of Modern Biomedicine Interviews (Digital Collection) and the current volume; acknowledgments v Illustrations and credits vii Abbreviations ix Introduction Professor Sir David Weatherall xi Compilation of edited interviews 1 1: Bakker, Bert 2 2: Dubowitz, Victor 12 3: Ferguson-Smith, Malcolm 40 4: Harper, Peter 52 5: Hodgson, Shirley 56 6: MacLeod, Patrick 80 7: Neale, Kay 104 8: Pembrey, Marcus 124 Related resources 133 Index 137 THE HISTORY OF MODERN BIOMEDICINE INTERVIEWS (DIGITAL COLLECTION) AND THE CURRENT VOLUME The History of Modern Biomedicine Research Group originated in 1990 as the Wellcome Trust’s History of Twentieth Century Medicine Group, which in October 2000 became a part of the Wellcome Trust’s Centre for the History of Medicine at UCL. From October 2010 until June 2017 it was a part of the School of History, Queen Mary University of London, principally funded by a Strategic Award from the Wellcome Trust. Throughout that period, the remit of the Group has been to develop and strengthen links between medical historians, and medical scientists, and practitioners, and to stimulate and expedite the historical study of contemporary biomedicine, especially by creating material resources to inform such studies. These have included the famous Witness Seminar series, widely available freely online and in print,1 and more recently a series of in-depth individual interviews. The History of Modern Biomedicine Interviews (Digital Collection), curated by Professor Tilli Tansey, Mr Adam Wilkinson, Mr Alan Yabsley, and Dr Apostolos Zarros, comprises these interviews.2 The Collection has been deposited in Queen Mary Research Online (QMRO), the online repository of Queen Mary University of London.3 The material has been linked to Digital Object Identifiers (DOIs) and can be cited. The History of Modern Biomedicine Interviews (Digital Collection) contains approximately 700 items including audio and video interview transcripts (as .pdf files), and video interview media files (as .mp4 files; video clips corresponding to the video interview transcripts archived). In addition, each interview entry includes a ‘How to cite’ file (.docx file) that acts as a guide on how to cite each item. 1 See http://www.histmodbiomed.org/article/wellcome-witnesses-volumes (accessed 28 March 2017). 2 Tansey E M, Wilkinson A, Yabsley A, Zarros A. (curators) History of Modern Biomedicine Interviews (Digital Collection). Queen Mary Research Online. Queen Mary University of London, London, 2016– 2017; https://qmro.qmul.ac.uk/xmlui/handle/123456789/12359 (accessed 28 March 2017). 3 For more details, visit the QMRO website at https://qmro.qmul.ac.uk/xmlui/ (accessed 28 March 2017). v Readers should note that video interview transcripts deposited there are edited for clarity and factual accuracy, following the principles of oral history methodology. However, the Collection’s audio interview transcripts are in most cases subject to enrichment by the interviewee and further editing. Related material has been deposited in the Wellcome Library. We now present a further edited selection from that Collection. This, the second of a three volume series of ‘Voices of Modern Biomedicine’, focusses on genetics and health. Sections have been selected and edited to highlight the broad features of each interviewee’s career and contributions, and much detail has been omitted. Readers wanting to learn more are encouraged to read the full interview and other material listed in the ‘Related resources’ section at the end of the volume. The interviews of Professors Bert Bakker, Malcolm Ferguson- Smith, Peter Harper and Marcus Pembrey are edited down and provided in shorter length than usual, since extensive interviews with all four exist in the “Interview Series with Founders of Human Genetics”.4 ACKNOWLEDGEMENTS We are grateful to Professor Sir David Weatherall for writing a comprehensive introduction, and also to the Wellcome Library, London, for permission to use photographs. We would like to thank Ms Lynda Finn for conducting a number of these interviews; Ms Emma M Jones, Ms Caroline Overy, Mrs Sarah Beanland, and Ms Fiona Plowman for their editorial assistance; Mr Alan Yabsley for his editorial and technical support (including filming and production of several of the original interviews); and Mr Adam Wilkinson for his excellent project management. We are grateful to Mr Jeremey Claridge, Dr Stephen Welburn, and Mrs Sarah Molloy for their time and assistance in setting up the History of Modern Biomedicine Interviews (Digital Collection), assigning DOIs to the interview transcripts, and making sure this Digital Collection is well integrated in QMRO. We are also grateful to Mr Akio Morishima for the design and production of this volume; the indexer Ms Cath Topliff; and Mrs Debra Gee for transcribing the original interviews. Finally, we thank the Wellcome Trust for their financial support. 4 Harper P S (2017) Recorded interviews with human and medical geneticists. Human Genetics 136: 149–164. vi ILLUSTRATIONS AND CREDITS* Figure 1 Professor Bert Bakker 2 Figure 2 Professor Victor Dubowitz 12 Figure 3 Professor Malcolm Ferguson-Smith 40 Figure 4 Professor Peter Harper 52 Figure 5 Professor Shirley Hodgson 56 Figure 6 Professor Patrick MacLeod 80 Figure 7 Ms Kay Neale 104 Figure 8 Professor Marcus Pembrey 124 * Figure 6 is a still image taken from a video recording by Mr Alan Yabsley, QMUL, and reproduced courtesy of the Wellcome Library, London. Unless otherwise stated, all other photographs were taken by Thomas Farnetti, Wellcome Trust, and reproduced courtesy of the Wellcome Library, London. vii ABBREVIATIONS ALSPAC Avon Longitudinal Study of Parents and Children APC adenomatous polyposis coli gene APP amyloid precursor protein gene BRCA1 breast cancer 1 gene BRCA2 breast cancer 2 gene BrdU bromodeoxyuridine CRUK Cancer Research UK EEG electroencephalogram ENT Ear, Nose & Throat FAP familial adenomatous polyposis GP General Practitioner GWAS genome-wide association study; GWA study HCHWA-D hereditary cerebral haemorrhage with amyloidosis of the Dutch type HNPCC hereditary non-polyposis colorectal cancer ICRF Imperial Cancer Research Fund JAMA Journal of the American Medical Association kb kilobase LCPG Leeds Castle Polyposis Group MRC Medical Research Council MRI magnetic resonance imaging NHS National Health Service NIMR National Institute for Medical Research RFLPs restriction fragment length polymorphisms SCA3 spinocerebellar ataxia type 3 SDH succinic dehydrogenase ix SHO Senior House Officer SV40 Simian virus 40 THET Tropical Health and Education Trust UBC University of British Columbia UV ultraviolet x INTRODUCTION By developing the Witness Seminar programmes,1 and later the Voices of Modern Biomedicine series, Professor Tilli Tansey and her colleagues have done a valuable service for medical historians of the future. This is exemplified by the second volume of Voices of Modern Biomedicine, which contains interviews with a wide range of medical geneticists; workers in a field which now touches on almost every aspect of medical research and practice. On reading the interviews in this volume, one is struck by the extraordinary diversity of backgrounds and other medical activities of those who were interviewed. This observation raises the question of how genetics, and particularly medical genetics, has developed over the years. The founders of genetics, Gregor Mendel and Francis Galton, were both born in 1822. Mendel was a monk, and Galton was a polymath who trained in medicine, but who became an explorer and inventor, and who later observed that talent appears to run in families - particularly those of Lord Chancellors; an observation which led to the field of eugenics. The undoubted father of medical genetics was the physician Archibald Garrod who was born in 1857. Although he was a busy clinician, he developed an early interest in biochemistry and the biochemical basis of disease. The first disease he studied in this way – accounts of which were published in 1899 and 1901 – described families with alkaptonuria; in both families there was a history of consanguinity in the parents of children with this disease. Although he did not appreciate the genetic significance of these findings, his work was seen by one of the leading protagonists of Mendel’s work of the time, William Bateson, who suggested that a recessive form of inheritance for alkaptonuria reflected the pattern of its inheritance in these families. In June 1908, Garrod delivered the Croonian Lectures at the Royal College of Physicians in London entitled ‘Inborn Errors of Metabolism’. By this time he had extended his work on alkaptonuria, and added cystinuria and several other conditions to his list of inborn errors. He later published these lectures, quoting Bateson’s interpretation of his work.2 At a later stage in his career Garrod was
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