Julia Bell (1879-1979) [1]

Total Page:16

File Type:pdf, Size:1020Kb

Julia Bell (1879-1979) [1] Published on The Embryo Project Encyclopedia (https://embryo.asu.edu) Julia Bell (1879-1979) [1] By: King, Jesse Keywords: Biography [2] Genetic diseases [3] Human inheritance [4] Julia Bell worked in twentieth-century Britain, discovered Fragile X Syndrome, and helped find heritable elements of other developmental and genetic disorders. Bell also wrote much of the five volume Treasury of Human Inheritance, a collection about genetics and genetic disorders. Bell researched until late in life, authoring an original research article on the effects of the rubella virus on fetal development (Congenital Rubella Syndrome) at the age of 80. Bell was born 28 January 1879 in Sherwood, Nottinghamshire, England, to Katherine Thomas Heap and James Bell, a printer. Bell was born into a large family, the tenth of fourteen children. From 1898 until 1901 she studied mathematics at Girton College, the women’s college at Cambridge University [5], in Cambridge, UK. Girton was then the only option for women to study at Cambridge, though the university didn't grant degrees to women until 1948. Bell eventually received her degree, but she couldn't complete her final examinations due to illness. Bell attained a Masters of Arts degree in Mathematics in 1907 from Trinity College in Dublin, Ireland. Upon graduation from Trinity, Bell worked as an assistant to Karl Pearson, the director of the Galton Laboratory at theU niversity College [6] in London, a part of the University of London, UK. While working there, Bell pursued her medical degree. In 1914, Bell attended the London School of Medicine for Women, part of the University of London, where she received her medical degree in 1920. She then began her work on volumes two, four and five of the Treasury of Human Inheritance, a five-volume set of books that catalogued and analyzed genetic disorders. Bell worked on the Treasury for nearly five decades, and she maintained a relationship with the Galton Laboratory for most of her life. While writing the Treasury, Bell investigated the method of transmission of Huntington’s disease. She predicted that genetic markers could identify carriers of the disease even in the absence of symptoms, a prediction confirmed by data. Researching with John Burdon Sanderson Haldane, Bell also found a hereditary connection between colorblindness and hemophilia [7]. The pair jointly published in 1937 a paper "The Linkage between the Genes for Colour-blindness and Haemophilia in Man" outlining the connection between the two genes [8]. The genes [8] that cause hemophilia [7] and colorblindness were determined to be on the same chromosome, and this discovery facilitated research into areas such as chromosome mapping. In 1943 Bell and James Purdon Martin discovered a form of sex-linked mentalr etardation [9] that is inherited from the X- chromosome of a mother carrying the trait or an affected father (X-linked). The syndrome was initially named Martin-Bell syndrome after its discoverers, but the name was changed to Fragile X syndrome. In their paper "A Pedigree of Mental Defect Showing Sex Linkage," Bell and Martin discuss their study of a family who had taken an infant exhibiting symptoms of mental retardation [9] to the National Hospital in London, UK. This family had a total of eleven males across two generations who exhibited symptoms of mental retardation [9]. After interviewing affected individuals and detailing the family's history, Martin and Bell suggested that the condition was sex linked, heritable, and caused specific sections of the brain to develop improperly. Because the patients had difficulty with speech, the two researchers hypothesized that the pre-frontal cortex was the affected area. Later in her career Bell remained active in research, publishing research on Congenital Rubella Syndrome in 1959. Bell collected information on the conditions of 712 infants whose mothers had contracted rubella during various periods during their pregnancy [10]. She outlined a possible connection between a mother contracting rubella early in thep regnancy [10], before twelve weeks, and the fetus [11] developing deafness, cataracts, or congenital heart disease. Although Bell’s results were not definitive, later studies supported her results. Bell’s work helped lay the groundwork for the emerging field of teratology [12], which is the study of the causes and processes of abnormal development. Bell remained involved with the Galton Laboratory in some capacity until 1965, when she retired at the age of 86. Bell never married, and lived alone until she entered a supervised care facility at the age of 97. When she was 100, Julia Bell died in St. George’s Nursing Home in Westminster, London. Sources 1. Bell, Julia "On Rubella in Pregnancy." The British Medical Journal 1 (1959): 686–8. 2. Bell, Julia, and John B.S. Haldane. "The Linkage between the Genes for Colour-Blindness and Haemophilia in Man." Proceedings of the Royal Society of London, Series B, Biological Sciences 123 (1937): 119–50. 3. Bell, Julia, and James P. Martin. "A Pedigree of Mental Defect Showing Sex Linkage."J ournal of Neurology and Psychiatry 1 6 (1943): 154–7. 4. Harper, Peter S. "Julia Bell and The Treasury of Human Inheritance." Human Genetics 116 (2005): 422–32. 5. Jones, Greta. "Bell, Julia (1879–1979)." In Oxford Dictionary of National Biography, eds. H. C. G. Matthew and Brian Harrison. Oxford: OUP, 2004. Online edition, ed. Lawrence Goldman, 2008. 6. Pearson, Karl, Ronald A. Fisher, and Lionel Penrose, eds. Treasury of Human Inheritance, vols. I-V. London: Various Publishers for The Galton Laboratory, 1909–1958. http://www.biodiversitylibrary.org/page/29090848 [13] [Vol. 1] (Accessed December 27th, 2012). 7. Robson, Elizabeth B. "Obituary, Julia Bell." Nature 281 (1979): 163–4. Julia Bell worked in twentieth-century Britain, discovered Fragile X Syndrome, and helped find heritable elements of other developmental and genetic disorders. Bell also wrote much of the five volume Treasury of Human Inheritance, a collection about genetics and genetic disorders. Bell researched until late in life, authoring an original research article on the effects of the rubella virus of fetal development (Congenital Rubella Syndrome) at the age of 80. Subject Fragile X sundrome [14] Genetic disorders [15] Fetal development [16] Rubella in pregnancy [17] Rubella virus [18] Pearson, Karl, 1857-1936 [19] Heredity [20] Haldane, J. B. S. (John Burdon Sanderson), 1892-1964 [21] Genes [22] Hemophilia [23] Martin, James Purdon [24] Mental retardation [25] X-linked mental retardation [26] Fetal development [16] Pregnancy [27] Embryos [28] Chromosomes [29] Neurobehavioral Manifestations [30] Nervous System Diseases [31] Topic People [32] Publisher Arizona State University. School of Life Sciences. Center for Biology and Society. Embryo Project Encyclopedia. Rights Copyright Arizona Board of Regents Licensed as Creative Commons Attribution-NonCommercial-Share Alike 3.0 Unported (http://creativecommons.org/licenses/by-nc-sa/3.0/) Format Articles [33] Last Modified Wednesday, July 4, 2018 - 04:40 DC Date Accessioned Monday, March 18, 2013 - 23:34 DC Date Available Monday, March 18, 2013 - 23:34 DC Date Created 2012-12-27 DC Date Created Standard Thursday, December 27, 2012 - 07:00 Contact Us © 2019 Arizona Board of Regents The Embryo Project at Arizona State University, 1711 South Rural Road, Tempe Arizona 85287, United States Source URL: https://embryo.asu.edu/pages/julia-bell-1879-1979 Links [1] https://embryo.asu.edu/pages/julia-bell-1879-1979 [2] https://embryo.asu.edu/keywords/biography [3] https://embryo.asu.edu/keywords/genetic-diseases [4] https://embryo.asu.edu/keywords/human-inheritance [5] https://embryo.asu.edu/search?text=Cambridge%20University 2 [6] https://embryo.asu.edu/search?text=University%20College [7] https://embryo.asu.edu/search?text=hemophilia [8] https://embryo.asu.edu/search?text=genes [9] https://embryo.asu.edu/search?text=retardation [10] https://embryo.asu.edu/search?text=pregnancy [11] https://embryo.asu.edu/search?text=fetus [12] https://embryo.asu.edu/search?text=teratology [13] http://www.biodiversitylibrary.org/page/29090848 [14] https://embryo.asu.edu/library-congress-subject-headings/fragile-x-sundrome-0 [15] https://embryo.asu.edu/library-congress-subject-headings/genetic-disorders [16] https://embryo.asu.edu/library-congress-subject-headings/fetal-development [17] https://embryo.asu.edu/library-congress-subject-headings/rubella-pregnancy [18] https://embryo.asu.edu/library-congress-subject-headings/rubella-virus [19] https://embryo.asu.edu/library-congress-subject-headings/pearson-karl-1857-1936 [20] https://embryo.asu.edu/library-congress-subject-headings/heredity [21] https://embryo.asu.edu/library-congress-subject-headings/haldane-j-b-s-john-burdon-sanderson-1892-1964 [22] https://embryo.asu.edu/library-congress-subject-headings/genes [23] https://embryo.asu.edu/library-congress-subject-headings/hemophilia [24] https://embryo.asu.edu/library-congress-subject-headings/martin-james-purdon [25] https://embryo.asu.edu/library-congress-subject-headings/mental-retardation [26] https://embryo.asu.edu/library-congress-subject-headings/x-linked-mental-retardation [27] https://embryo.asu.edu/library-congress-subject-headings/pregnancy [28] https://embryo.asu.edu/library-congress-subject-headings/embryos [29] https://embryo.asu.edu/library-congress-subject-headings/chromosomes [30] https://embryo.asu.edu/medical-subject-headings/neurobehavioral-manifestations [31] https://embryo.asu.edu/medical-subject-headings/nervous-system-diseases [32] https://embryo.asu.edu/topics/people [33] https://embryo.asu.edu/formats/articles 3.
Recommended publications
  • Clinical Genetics in Britain: Origins and Development
    CLINICAL GENETICS IN BRITAIN: ORIGINS AND DEVELOPMENT The transcript of a Witness Seminar held by the Wellcome Trust Centre for the History of Medicine at UCL, London, on 23 September 2008 Edited by P S Harper, L A Reynolds and E M Tansey Volume 39 2010 ©The Trustee of the Wellcome Trust, London, 2010 First published by the Wellcome Trust Centre for the History of Medicine at UCL, 2010 The Wellcome Trust Centre for the History of Medicine at UCL is funded by the Wellcome Trust, which is a registered charity, no. 210183. ISBN 978 085484 127 1 All volumes are freely available online following the links to Publications/Wellcome Witnesses at www.ucl.ac.uk/histmed CONTENTS Illustrations and credits v Abbreviations vii Witness Seminars: Meetings and publications; Acknowledgements E M Tansey and L A Reynolds ix Introduction Sir John Bell xix Transcript Edited by P S Harper, L A Reynolds and E M Tansey 1 Appendix 1 Initiatives supporting clinical genetics, 1983–99 by Professor Rodney Harris 83 Appendix 2 The Association of Genetic Nurses and Counsellors (AGNC) by Professor Heather Skirton 87 References 89 Biographical notes 113 Glossary 133 Index 137 ILLUSTRATIONS AND CREDITS Figure 1 Professor Lionel Penrose, c. 1960. Provided by and reproduced with permission of Professor Shirley Hodgson. 8 Figure 2 Dr Mary Lucas, clinical geneticist at the Galton Laboratory, explains a poster to the University of London’s Chancellor, Princess Anne, October 1981. Provided by and reproduced with permission of Professor Joy Delhanty. 9 Figure 3 (a) The karyotype of a phenotypically normal woman and (b) family pedigree, showing three generations with inherited translocation.
    [Show full text]
  • Color Blindness"
    The American Journal of Human Genetics Vol. 9 No. 4 December 1957 The Cunier Pedigree of "Color Blindness" CURT STERN AND GORDON L. WALLS Department of Zoolog3 and School of Optometry, University of California, Berkeley, California THE FIVE-GENERATION PEDIGREE which Florent Cunier published in 1839 (and only then; see Appendix A) has held the attention of geneticists for as long as there has been genetics. The inheritance of the most familiar kinds of color blindness is clearly X-linked and recessive, so that a color-blind woman married to a color-normal man has daughters who are all normal like her husband, and sons who are all color blind like herself. The color defect in Cunier's kindred was transmitted from affected mothers to all of their daughters but to none of their sons (Figure 1). The Cunier pedigree was taken at face value by all for nearly a century (and still is, by most people), as exhibiting an extraordinary inheritance of ordinary color blindness. The X-linkage of the common color blindnesses was recognized as early as 1911 (by T. H. Morgan and by E; B. Wilson), but not firmly established until the 1920's. Meanwhile, factors were at work to keep the Cunier pedigree from com- ing under any sort of suspicion. Types and subtypes of color blindness were still being discovered or discriminated from already-known conditions well into the twentieth century (tritanomaly, tetar- tanopia, atypical achromasy), and long after Cunier even a single odd case would readily be accepted as "belonging", as the prototype of a new category.
    [Show full text]
  • The Development, Rise, Fall, and Return of the Concept of Anticipation in Hereditary Disease
    Coming Full Circle: The Development, Rise, Fall, and Return of the Concept of Anticipation in Hereditary Disease by Judith Ellen Friedman B.Sc., University of Alberta, 1994 B.A. University of Alberta, 1995 M.A. University of Alberta, 1997 A Dissertation Submitted in Partial Fulfillment of the Requirements for the Degree of DOCTOR OF PHILOSOPHY in the Department of History © Judith Ellen Friedman, 2008 University of Victoria All rights reserved. This dissertation may not be reproduced in whole or in part, by photocopying or other means, without the permission of the author. ISBN: 978-0-494-52946-1 ii Coming Full Circle: The Development, Rise, Fall, and Return of the Concept of Anticipation in Hereditary Disease by Judith Ellen Friedman B.Sc., University of Alberta, 1994 B.A. University of Alberta, 1995 M.A. University of Alberta, 1997 Supervisory Committee Dr. Gregory Blue, Supervisor (Department of History) Dr. Angus McLaren, Departmental Member (Department of History) Dr. David Zimmerman, Departmental Member (Department of History) Dr. Robert Reid, Outside Member (Department of Biology) Dr. Michael Ashwood-Smith, Outside Member (Department of Biology) Dr. Robert Olby, External Examiner (Department of History and Philosophy of Science, University of Pittsburgh) iii Supervisory Committee Dr. Gregory Blue, Supervisor (Department of History) Dr. Angus McLaren, Departmental Member (Department of History) Dr. David Zimmerman, Departmental Member (Department of History) Dr. Robert Reid, Outside Member (Department of Biology) Dr. Michael Ashwood-Smith, Outside Member (Department of Biology) Dr. Robert Olby, External Examiner (Department of History and Philosophy of Science, University of Pittsburgh) ABSTRACT This dissertation examines the history of the creation and development of the concept of anticipation, a pattern of heredity found in several diseases (e.g.
    [Show full text]
  • Review Doi: 10.1111/J.1469-1809.2011.00645.X Writings on Genetic Linkage in the Annals
    Review doi: 10.1111/j.1469-1809.2011.00645.x Writings on Genetic Linkage in the Annals Jurg Ott1,2 1Institute of Psychology, Chinese Academy of Sciences, 4A Datun Road, Beijing 100101, China 2Rockefeller University, New York, NY, USA Summary From its inception in 1925 through the almost 30 years that it carried the title of Annals of Eugenics, this journal published numerous articles on the statistical aspects of genetic linkage analysis and its applications to family pedigree data. This overview discusses 40 papers on linkage analysis published in the Annals. Introduction changed its name to Annals of Human Genetics. Early issues of the Annals contained various reports on family pedigree Volume I of the Annals of Eugenics was published in 1925 and data and considerations of the mode of inheritance of the was favorably reviewed in Science magazine (Holmes, 1926). trait segregating in these families. The first papers on linkage In a foreword to the first issue of the Annals, Karl Pearson, its analysis are due to Haldane (Haldane, 1934) and Fisher (Fisher, editor and the director of the Galton Laboratory for National 1934), published back to back. The two authors took issue Eugenics, and E. M. Elderton pointed out that the “develop- with the problem of estimating the recombination fraction ment of Mendelism in recent years has been in the direction when offspring cannot simply be identified as recombinants of a multiplicity of factors, even for apparently simple charac- or nonrecombinants. Haldane (Haldane, 1934) pointed out ters” (which sounds rather modern) and that “probability lies that Bernstein in the early 1930’s had recognized for the first at the basis of our knowledge.” Thus, they invited researchers time that two-generation families (without grandparents) are to publish papers (called “memoirs” at the time) on biology useful for linkage analysis and had devised a scoring system and genetics as well as mathematics and statistics.
    [Show full text]
  • Clinical Genetics in Britain: Origins and Development
    CLINICAL GENETICS IN BRITAIN: ORIGINS AND DEVELOPMENT The transcript of a Witness Seminar held by the Wellcome Trust Centre for the History of Medicine at UCL, London, on 23 September 2008 Edited by P S Harper, L A Reynolds and E M Tansey Volume 39 2010 ©The Trustee of the Wellcome Trust, London, 2010 First published by the Wellcome Trust Centre for the History of Medicine at UCL, 2010 The Wellcome Trust Centre for the History of Medicine at UCL is funded by the Wellcome Trust, which is a registered charity, no. 210183. ISBN 978 085484 127 1 All volumes are freely available online at: www.history.qmul.ac.uk/research/modbiomed/wellcome_witnesses/ Please cite as : Reynolds L A, Tansey E M. (eds) (2010) Clinical Genetics in Britain: Origins and development. Wellcome Witnesses to Twentieth Century Medicine, vol. 39. London: Wellcome Trust Centre for the History of Medicine at UCL. CONTENTS Illustrations and credits v Abbreviations vii Witness Seminars: Meetings and publications; Acknowledgements E M Tansey and L A Reynolds ix Introduction Sir John Bell xix Transcript Edited by P S Harper, L A Reynolds and E M Tansey 1 Appendix 1 Initiatives supporting clinical genetics, 1983–99 by Professor Rodney Harris 83 Appendix 2 The Association of Genetic Nurses and Counsellors (AGNC) by Professor Heather Skirton 87 References 89 Biographical notes 113 Glossary 133 Index 137 ILLUSTRATIONS AND CREDITS Figure 1 Professor Lionel Penrose, c. 1960. Provided by and reproduced with permission of Professor Shirley Hodgson. 8 Figure 2 Dr Mary Lucas, clinical geneticist at the Galton Laboratory, explains a poster to the University of London’s Chancellor, Princess Anne, October 1981.
    [Show full text]
  • Hilda Mary Woods and the Negative Binomial Distribution
    Hilda Mary Woods and the negative binomial distribution Mario Cortina Borja Population, Policy and Practice Research and Teaching Department Great Ormond Street Institute of Child Health University College London 8th March 2021 Overview 1 Statistics in Britain: 1910–1920 2 Women in Statistics: Britain 1910–1920 3 Hilda Mary Woods (1892–1971) 4 The negative binomial distribution 5 Greenwood & Woods’s work on modelling accidents 6 References A decade of wars: life expectancy in England & Wales, 1841–2009 Source: Pattison J et al (2013) Biometrika and JRSS: 1910–1920 Biometrika Founded in 1901 by K Pearson, R Weldon, and F Galton Pearson named it and FY Edgeworth suggested the ‘k’ in the name See Cox (2001), and Aldrich (2013) for a history of the early years JRSS Founded in 1838 as Journal of the Statistical Society of London Renamed Journal of the Royal Statistical Society in 1887 Divided into Series A (General) and Series B (Statistical Methodology) in 1948) Series C (Applied Statistics) started in 1952 Series A renamed Series A (Statistics in Society) in 1988 Series D (The Statistician) 1993 after merge of the Society with the Institute of Statisticians Series D replaced by Significance from 2004 See Hill (1984) for a history of the early years Biometrika and JRSS: 1910–1920 1910 1911 1912 1913 1914 1915 1916 1917 1918 1919 1920 Total BKA 0 38 0 24 37 24 0 0 19 0 21 163 JRSS 28 27 22 31 21 22 19 27 14 11 20 242 Biometrika and JRSS: 1910–1920 Author JRSS BKA Notes [Anonymous] 41 14 Several signed ‘K.P.’ Pearson, K (1857–1936) 2 52 Edgeworth,
    [Show full text]
  • HS March 99.P65
    Hist. Sci., xxxvii (1999) THE NON-CORRELATION OF BIOMETRICS AND EUGENICS: RIVAL FORMS OF LABORATORY WORK IN KARL PEARSON’S CAREER AT UNIVERSITY COLLEGE LONDON, PART 1 M. Eileen Magnello Wellcome Institute for the History of Medicine, London I have great hesitation in taking any initiative at all in the Eugenic Records Office, because I did not want you to think that I was carrying all things into the biometric vortex! (Karl Pearson to Francis Galton, 1906)1 The Drapers’ Biometric Laboratory is the older, and had become a training school for math- ematical statistics before Sir Francis Galton had thought of his Eugenics Laboratory. (Karl Pearson, 1918)2 Scholarship on the methods and techniques that the English biometrician and eu- genicist, Karl Pearson (1857–1936), devised and deployed in two of his laborato- ries has been shaped by the underlying premise that there was one overall method and unifying approach in the Drapers’ Biometric Laboratory and the Galton Eugen- ics Laboratory.3 Virtually all historians of science have adopted this uni-dimensional and mono-causal historiographical premise in their work on Pearson. In this paper I shall undermine this premise and argue that there is a clear need to disaggregate the methods and tools in these two laboratories. Whilst the origins of this debate on Pearson can be traced to 1911, it has been the debates from the 1970s, as exemplified in the works of Donald Mackenzie and Bernard Norton, in particular, that have received considerable attention from histo- rians of science. Norton argued that Pearson’s presumptively lifelong “methodo- logical and ontological commitments” played an important role in science.4 Mackenzie, trained in the Edinburgh School of the 1970s, claimed that the analysis of Pearson depends “on notions of class interests”.
    [Show full text]
  • Columbia College Bulletin 2020-2021 03/29/21
    Columbia College Columbia University in the City of New York Bulletin | 2020-2021 March 30, 2021 Chemistry ................................................................ 249 TABLE OF Classics ................................................................... 266 Colloquia, Interdepartmental Seminars, and Professional CONTENTS School Offerings ..................................................... 283 Comparative Literature and Society ........................ 286 Columbia College Bulletin ..................................................... 3 Computer Science ................................................... 297 Academic Calendar ................................................................. 6 Creative Writing ..................................................... 318 The Administration and Faculty of Columbia College .......... 10 Dance ...................................................................... 327 Admission ............................................................................. 55 Drama and Theatre Arts ......................................... 337 Fees, Expenses, and Financial Aid ....................................... 56 Earth and Environmental Sciences .......................... 350 Academic Requirements ....................................................... 87 East Asian Languages and Cultures ........................ 366 Core Curriculum ................................................................... 91 Ecology, Evolution, and Environmental Biology Literature Humanities ....................................................
    [Show full text]
  • The Origins and Growth of the English Eugenics Movement, 1865-1925
    @GOu@ �0um□□@ �OIJill@Du �®W@Dill The Origins and Growth of the English Eugenics Movement, 1865-1925 The Origins and Growth of the English Eugenics Movement, 1865-1925 Lyndsay Andrew Farrall UCL Department of Science and Technology Studies (STS) STS Occasional Papers number 9 2019 STS Occasional Papers number 9 UCL Department of Science and Technology Studies (STS) Gower Street, London WC1E 6BT UK www.ucl.ac.uk/sts/occasional-papers Originally submitted to the Graduate School in partial fulfilment of the requirements for the degree Doctor of Philosophy in the Department of History and Philosophy of Science, Indiana University, December 1969. Also published in United States in 1985 by Garland Publishing (New York and London) under ISBN 0-8240-5810-0. Printed in facsimile with new preface from the author. This facsimile is published in 2019 by UCL Department of Science and Technology Studies with permission of the author. It uses the 1969 original thesis in facsimile. copyright 2019 Lyndsay Andrew Farrall The right of Lyndsay Andrew Farrall to be identified as the author of this work is asserted in accordance with the Copyright, Designs, and Patents Act 1988. A CIP Record for this book is available from the British Library. Frontispiece image is used with permission of the Wellcome Collection. ISBN 978-1-78751-001-2 UCL Department of Science and Technology Studies (STS) publishes STS Occasional Papers to disseminate current research undertaken by our staff and affiliated scholars. The aim is to inform, investigate, and provoke. The series covers the whole of our diverse field: history, philosophy and sociology of science, science policy, and public engagement of science.
    [Show full text]