2017 Presidential Address: Checking, Balancing, and Celebrating Diversity: Celebrating Some of the Women Who Paved the Way
2018; Elsevier BV; Volume: 102; Issue: 3 Linguagem: Inglês
10.1016/j.ajhg.2018.02.006
ISSN1537-6605
Autores Tópico(s)Genomic variations and chromosomal abnormalities
ResumoGiven that the verbal presentation and slides of the 2017 ASHG presidential address are available on the ASHG website, it seemed appropriate to take the opportunity in this article to provide more detailed information on some of the women—highlighted in the presentation—who have made contributions to the science of human genetics. Among those highlighted, I will focus on the subset of women who I have known personally. Human genetics has a long history of strong female scientists who not only contributed greatly to science but also paved—and smoothed—the way for those who came after. My goal here is to celebrate that legacy by documenting some of it for the younger generations who might not have had direct knowledge of the contributions of these women. The generosity of these women—in their official mentoring of students and postdocs and in their consistent efforts to keep female scientists in the forefront of the field of human genetics—is well worth celebrating! Human cytogenetics was a rapidly moving and tremendously exciting field as its technologies evolved—comparable, perhaps, to today’s excitement in genomics given the revolution in interrogating genome variation. Many of the field’s leaders were women, and of them, Pat Jacobs, Janet Rowley, Dorothy Warburton, and Uta Francke were all former ASHG Allan Award winners who I have been fortunate to know. Born in London in 1934, Pat Jacobs moved to Scotland as a child and was educated at the University of St. Andrews in Fife, Scotland, where she earned both BSc and DSc degrees. She came into human genetics through zoology and cytogenetics, and her early human genetics research career focused on population cytogenetics. She continues to conduct research today (in her mid-80s) on both the nature and basis of human chromosomal variation and on population studies of human chromosomal variations. Pat Jacobs described the first chromosomal anomaly characterized in humans with colleague John Strong in 19591Jacobs P.A. Strong J.A. A case of human intersexuality having a possible XXY sex-determining mechanism.Nature. 1959; 183: 302-303Crossref PubMed Scopus (590) Google Scholar as a 47 XXY, already known as Klinefelter syndrome because of the recognition of the symptom cluster associated with this disorder in 1942 by Harry Klinefelter. Her long association with the Medical Research Council’s Edinburgh unit led her to value a team approach (including clinicians, epidemiologists, and cytogeneticists) to scientific investigation long before it became as widely used in human genetics as it is today. She was an active leader of human cytogenetics in its early days, when several major discoveries were reported every year for the first decade or so, and remained in the forefront of large-scale investigations of human cytogenetics over her entire career. Her lab made seminal contributions to our understanding of widely disparate parts of this science, including not only cytogenetic anomalies associated with a variety of human diseases2Jacobs P.A. Baikie A.G. Court Brown W.M. Strong J.A. The somatic chromosomes in mongolism.Lancet. 1959; 1: 710Abstract PubMed Scopus (152) Google Scholar, 3Baikie A.G. Brown W.M. Jacobs P.A. Milne J.S. Chromosome studies in human leukaemia.Lancet. 1959; 2: 425-428Abstract PubMed Scopus (19) Google Scholar, 4Jacobs P.A. Tough I.M. Wright D.H. Cytogenetic studies in Burkitt’s lymphoma.Lancet. 1963; 2: 1144-1146Abstract PubMed Scopus (26) Google Scholar but also general investigations of the sex chromosomes, including the single best-titled paper5Jacobs P.A. Baikie A.G. Brown W.M. MacGregor T.N. MacLean N. Harnden D.G. Evidence for the existence of the human “super female”.Lancet. 1959; 2: 423-425Abstract PubMed Scopus (150) Google Scholar ever. She was among the first to tackle larger-scale epidemiological investigations by using cytogenetics6Jacobs P.A. Brunton M. Brown W.M. Cytogenetic studies in leucocytes on the general population: Subjects of ages 65 and more.Ann. Hum. Genet. 1964; 27: 353-365Crossref PubMed Scopus (59) Google Scholar, 7Ratcliffe S.G. Stewart A.L. Melville M.M. Jacobs P.A. Keay A.J. Chromosome studies on 3500 newborn male infants.Lancet. 1970; 1: 121-122Abstract PubMed Scopus (96) Google Scholar and did seminal work on many aspects of fragile X syndrome.8Jacobs P.A. Mayer M. Matsuura J. Rhoads F. Yee S.C. A cytogenetic study of a population of mentally retarded males with special reference to the marker (X) syndrome.Hum. Genet. 1983; 63: 139-148Crossref PubMed Scopus (50) Google Scholar, 9Cantú E.S. Jacobs P.A. Fragile (X) expression: relationship to the cell cycle.Hum. Genet. 1984; 67: 99-102Crossref PubMed Scopus (4) Google Scholar, 10Sherman S.L. Morton N.E. Jacobs P.A. Turner G. The marker (X) syndrome: a cytogenetic and genetic analysis.Ann. Hum. Genet. 1984; 48: 21-37Crossref PubMed Scopus (307) Google Scholar, 11Sherman S.L. Jacobs P.A. Morton N.E. Froster-Iskenius U. Howard-Peebles P.N. Nielsen K.B. Partington M.W. Sutherland G.R. Turner G. Watson M. Further segregation analysis of the fragile X syndrome with special reference to transmitting males.Hum. Genet. 1985; 69: 289-299Crossref PubMed Scopus (388) Google Scholar, 12Abruzzo M.A. Mayer M. Jacobs P.A. The effect of methionine and 5-azacytidine on fragile X expression.Am. J. Hum. Genet. 1985; 37: 193-198PubMed Google Scholar, 13Mayer M. Abruzzo M.A. Jacobs P.A. Yee S.C. A cytogenetic study of a population of retarded females with special reference to the fragile (X) syndrome.Hum. Genet. 1985; 69: 206-208Crossref PubMed Scopus (9) Google Scholar, 14Jacobs P.A. Sherman S. Turner G. Webb T. The fragile (X) syndrome: the mutation problem.Am. J. Med. Genet. 1986; 23: 611-617Crossref PubMed Scopus (14) Google Scholar, 15Oberlé I. Heilig R. Moisan J.P. Kloepfer C. Mattéi G.M. Mattéi J.F. Boué J. Froster-Iskenius U. Jacobs P.A. Lathrop G.M. et al.Genetic analysis of the fragile-X mental retardation syndrome with two flanking polymorphic DNA markers.Proc. Natl. Acad. Sci. USA. 1986; 83: 1016-1020Crossref PubMed Scopus (43) Google Scholar, 16Macpherson J.N. Nelson D.L. Jacobs P.A. Frequent small amplifications in the FMR-1 gene in fra(X) families: limits to the diagnosis of ‘premutations’.J. Med. Genet. 1992; 29: 802-806Crossref PubMed Scopus (15) Google Scholar, 17Jacobs P.A. Bullman H. Macpherson J. Youings S. Rooney V. Watson A. Dennis N.R. Population studies of the fragile X: a molecular approach.J. Med. Genet. 1993; 30: 454-459Crossref PubMed Scopus (93) Google Scholar Dr. Jacobs was the first woman to be awarded the Allan Award from the ASHG in 1981, which was also the first and (so far) only year the society had both a female president and a female president-elect (Barbara Bowman and Marge Shaw, respectively). Dr. Jacobs has won many additional awards over her long career. To elaborate on just a few, she was elected as a fellow of the Royal Society of Edinburgh in 1977, received the University of Hawaii Regent’s Medal for Excellence in Research in 1983, was elected as a fellow of the Royal College of Pathologists in 1987, became an elected fellow of the Royal Society in 1993, won the Mauro Baschirotto Award from the European Society of Human Genetics in 1999, was elected as a foreign associate of the National Academy of Sciences in 2009, and was awarded the March of Dimes Prize in Developmental Biology in 2011. Pat Jacobs was a pioneering scientist in human genetics and was described by her colleagues as vivid, vibrant, genuine, and genuinely fun to work with. One of her former trainees noted that she could have been the originator of “rigor and reproducibility” but that she would have referred to it simply as “doing science.” She married Newton Morton, the first Allan Award winner (1962), in 1972 and joined him at the University of Hawaii in creating a unique research environment that attracted scientists from far and wide. Many prominent human geneticists were students and/or postdocs there, but scientists at all levels came for sabbaticals and other extended visits to learn new aspects of human genetics being created there in both human cytogenetics and human population and quantitative genetics. What could be better than doing great science in paradise? Newton Morton once characterized Pat’s personality by describing a long, meandering walk that the two of them had taken with Charlie MacLean along volcanic rocks. They had been talking about science the whole way, and after a lengthy side discussion with Charlie, Newton realized not only that they were completely lost but also that they had long since lost Pat. Newton said in describing the incident many years later that although Pat had been angry, only a woman of truly expansive good humor would have still been married to him. I love that story because I have played both the role of Pat and the role of Newton in similar scenarios. Talking about science while stationary has always been much safer for me. In addition to students and postdocs who they mentored individually, a number of young people, such as Stephanie Sherman, did research with both. Dr. Jacobs continues to conduct research and publish both on her own and with long-time colleagues, including Stephanie Sherman and Terry Hassold, and is currently co-director of research at the Wessex Regional Genetics Laboratory of the University of Southampton. Janet Davison Rowley was born in New York in 1925 and moved to Chicago at 15 to attend a special advanced program through the University of Chicago Laboratory Schools, where she completed her last years of high school. She ultimately earned an undergraduate degree at the University of Chicago and then went to medical school there. Although she had to wait until the second year after she first applied to the medical school to be officially admitted (because they already had the one woman allowed in the medical school class in the first year she applied), she received her MD degree in 1948 and her medical license in 1951. Dr. Rowley began her faculty career at the University of Chicago in 1962, although she worked only part time when her children were young. By 1973 she had developed the ability to identify a translocation between chromosomes 9 and 22 as the cause of the Philadelphia chromosome seen in chronic myelogenous leukemia.18Rowley J.D. Letter: A new consistent chromosomal abnormality in chronic myelogenous leukaemia identified by quinacrine fluorescence and Giemsa staining.Nature. 1973; 243: 290-293Crossref PubMed Scopus (3369) Google Scholar Through her continued research and discovery of chromosomal translocations associated with different forms of cancer, Dr. Rowley became convinced that these observations were not mere bystanders, or even a consequence of the cancer, but rather a primary driver of cancer biology. This view was, of course, eventually vindicated, and Dr. Rowley was a hugely influential figure in cancer cytogenetics and cancer biology. Janet was a colleague and friend at the University of Chicago. Although she was recognized as a force of nature even by the time I arrived there in 1987, she was completely approachable at seminars or journal clubs and, as I was surprised to learn, as the lecturer on cancer genetics in a human genetics course I taught as a young faculty member. I remember being a little nervous when I first met her, but she was so down to earth that it was impossible to be ill at ease. But she really was a force of nature, and it was due in part to her constant pressure that the University of Chicago eventually established their Department of Human Genetics. She was an advocate for quality science and the resources necessary to support it for her entire career, and she was a great friend to new faculty at the University of Chicago. She would always ask, “Do you have everything you need to do your best science?” And she freely shared her own story by emphasizing not her amazingly accelerated undergraduate and medical education but the many years that she worked only part time because of her young children, the slow acceleration of her research program, and her conviction that persistence in quality science was the key to real success—and that real success is centered on the pleasure of learning what you set out to learn and on the journey to that knowledge. She was a generous mentor and extended her mentoring role to many outside her immediate lab. Her trainees are a who’s who of cancer genetics and biology, and she knew absolutely everyone and had an amazing ability to connect people in just the right way by recommending the right person to contact if you had a question or wanted to start a project. Dr. Rowley also won many prestigious awards in addition to her 1991 Allan Award, shared with Alfred Knudson, Jr. She won the Lasker-DeBakey Clinical Medicine Research Award and National Medal of Science in 1998, the Gruber Prize in Genetics and National Medal of Freedom in 2009, the Pearl Meister Greengard Prize in 2010, and the Japan Prize in 2012. It was not widely known, but Janet Rowley contributed any awarded prize money to the University of Chicago. She said that all of her success was attributable to the education and the opportunities that the university had afforded her and that she really valued the time they gave to build her early career. She did whatever university work she was asked to do but still conducted research nearly to the end of her life. She scored in the top few percentiles on an NIH grant well into her 80s. Life in science is filled with memorable people. Everyone who knew Janet Rowley felt grateful for that privilege. Dorothy DeMontmerency Warburton was born in Galt, Ontario, Canada, in 1936 and, focused on the more quantitative aspects of human genetics, earned both her undergraduate (1957) and graduate (1961) degrees at McGill University in Montreal. She became a faculty member at Barnard College of Columbia University and learned human cytogenetics at that time to allow her to further her research interests in the causes of human miscarriage. She recognized early the value of creating a clinical laboratory for conducting human cytogenetic studies and founded the Cytogenetics Laboratory at the NewYork-Presbyterian Hospital and Babies’ Hospital (affiliated with the Columbia University College of Physicians and Surgeons) in 1969. She directed the laboratory for 37 years and was associate director until she died. She conducted state-of-the-art research in human cytogenetics from the time she learned it. Dr. Warburton was outspoken, disarmingly funny, and a terrific dinner partner. I had the good fortune to serve with her on a number of study sections and learned a great deal from her on how to evaluate study designs even for research not immediately in my area. She was also ferocious in the defense of science she believed was worth pursuing. It is easy to find the weaknesses in any grant, and everyone at the table will appreciate your intelligence in recognizing and pointing out those weaknesses. Advocating effectively for a grant requires a different kind of argument and a genuine confidence in your scientific views and your ability to articulate them. I wish it were possible to bottle the kind of wisdom and passion she demonstrated in those meetings and pass them out to new members of study sections. Dr. Warburton’s speech for her 2006 Allan Award is well worth reviewing. Entitling it “Having it All,” she used the term to refer to many different aspects of her career and life that she valued highly. She reveled in being able to skate on the edge of several different disciplines—quantitative genetics, genetic epidemiology, and human cytogenetics, for example, were all part of the research she conducted over most of her career. But she loved having both the basic science and translational perspectives in her day-to-day research life as well. Running a clinical laboratory enabled her to accumulate knowledge on unusual patients, which sometimes spurred new research ideas and always stimulated her to learn more for the sake of the patient. She also used the term to note that she felt that she had it all with respect to having, and deeply enjoying having, a family throughout much of her career and, at the same time, a career that was intellectually satisfying to her. Although she valued her career and the opportunities to pursue the science she loved, she noted that she was precluded from becoming tenured for many years because only one member of a married couple could be considered for tenure at Columbia, and when that anachronism was finally ended, she was nevertheless denied tenure. It is still astonishing to me, knowing her research and career, that such an outcome would be possible. It is, perhaps, a sober reminder that improvements are often incremental and sometimes come with lingering headwinds. Her Allan Award presentation also reminds us that our current concerns about the ability of modern data generation to far outstrip our ability to provide confident clinical interpretation of that data are not really new at all. Her well-articulated concerns are difficult to improve upon and would fit in any of the current discussions on that topic. Dr. Warburton also expressed the hope that the dearth of female Allan Award winners was largely attributable to the tendency of the award to be presented as a lifetime achievement and that as more women spent a lifetime doing human genetics research, more women would win such awards. After Pat Jacobs won the award in 1981, three women received it over the next 10 years, but not a single woman won the award over the 10 years that followed. Over the next 10, there were but two women, Dorothy Warburton in 2006 and Uta Francke in 2012. In the 5 years since 2012, only one woman, Kay Davies, has been an Allan Award winner (2015). Is it really true that fewer than 20% of the scientists worthy of the Allan Award are women? The Curt Stern Award was first awarded in 2001, and over its life, only one woman, Vivian Cheung (2010), has achieved this honor. The statistics for the Curt Stern Award are particularly grim, because to some extent they might presage the male/female ratio of future Allan Award nominees. At this point, I’m afraid these statistics say more about the processes for nominations and awards at ASHG than about the quality of female scientists doing research in human genetics. The ASHG Board of Directors has recently voted to establish a more straightforward nomination procedure that will be available for use in 2018, as well as a larger awards committee to ensure diverse representation and a good quorum for all calls. Dorothy Warburton died in April 2016. I am anxious to see Dr. Warburton’s hopes for the representation of women among Allan Award winners—indeed all ASHG award winners—come to fruition. Uta Francke is a physician scientist originally from Germany (MD from Munich in 1967) and has been working in the United States since 1970. She completed fellowships in medical genetics and genomics at the University of California, Los Angeles (UCLA; 1971) and University of California, San Diego (1973) and joined the faculty at Yale’s new Department of Human Genetics in 1978. Dr. Francke was also a pioneer in human cytogenetics and used both somatic cell genetics and high-resolution cytogenetics to drive the field into new areas. I had the pleasure of doing a rotation in Dr. Francke’s lab as a first-year graduate student in human genetics at Yale. Although I had done some mosquito cytogenetics as an undergraduate and a clinical cytogenetics rotation with Dr. Roy Breg, the Francke lab was pursuing a host of new methods in cytogenetics. There were elaborate setups for making high-resolution chromosome spreads and dozens (hundreds?) of somatic cell hybrids that could be used for mapping genes to chromosomal regions through the clever use of translocations,19Francke U. Regional localization of the human genes for malate dehydrogenase-1 and isocitrate dehydrogenase-1 on chromosome 2 by interspecific hybridization using human cells with the balanced reciprocal translocation t(1;2) (q32;q13).Cytogenet. Cell Genet. 1975; 14: 308-312Crossref PubMed Scopus (5) Google Scholar so as the hybrids shed human chromosomes, higher resolution mapping was possible. Though I had chosen Yale specifically to work with Ken Kidd in quantitative human genetics, the experience in Dr. Francke’s lab was memorable. Even though I did not ultimately work in human cytogenetics, I always kept up with Dr. Francke. She was very encouraging throughout my graduate studies at Yale and always made time to talk with me about human genetics research that I wanted to discuss. Even after I finished at Yale, I remember receiving a note in which she reminded me of science we had discussed, and I always caught up with her at ASHG meetings. She would sometimes rent a plane and fly herself to the meeting, which seems like an even better idea these days. After I served with her on a study section that she chaired, I was so impressed with how accurately she summarized the discussions that I’ve always tried to model her approach when I chair a study section; I am still working on getting that right. I doubt that she ever realized what an important role model she was, but to this day when I get to spend time with human genetics graduate students who are not in my own lab but who want some advice or just to hang out and talk about science, I think of her and her generosity in sharing her enthusiasm for human genetics. Dr. Francke moved from Yale University to Stanford University, where she spent most of her career and is a professor emerita in genetics and pediatrics. Her innovative cytogenetics led to the precise mapping of hundreds of human and mouse genes, and she created much of the early knowledge on how regions of mouse and human chromosomes share syntenic regions. She contributed to knowledge in many human diseases20Pérez Jurado L.A. Peoples R. Kaplan P. Hamel B.C. Francke U. Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth.Am. J. Hum. Genet. 1996; 59: 781-792PubMed Google Scholar, 21Liu W. Qian C. Comeau K. Brenn T. Furthmayr H. Francke U. Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe marfan syndrome.Hum. Mol. Genet. 1996; 5: 1581-1587Crossref PubMed Scopus (77) Google Scholar and was among the first to create mouse models of human microdeletion syndromes.22Li H.H. Roy M. Kuscuoglu U. Spencer C.M. Halm B. Harrison K.C. Bayle J.H. Splendore A. Ding F. Meltzer L.A. et al.Induced chromosome deletions cause hypersociability and other features of Williams-Beuren syndrome in mice.EMBO Mol. Med. 2009; 1: 50-65Crossref PubMed Scopus (75) Google Scholar Her research was patiently iterative—it went back and forth between different kinds of somatic cell hybrids to very finely map a disease gene or went back and forth between human and mouse models of disease to establish mechanisms of disease at both the mutation and gene levels. And her research was widely recognized for its creativity and impact in both the basic science and clinical arenas. She was elected to the Institute of Medicine (now the National Academy of Medicine) in 1990 and as a fellow in the American Association for the Advancement of Science in 1995. She won the Antione Marfan Award from the National Marfan Association in 1996 and was elected as a fellow of the American Academy of Arts and Sciences in 1996. She was the recipient of the Colonel Harland Sanders Lifetime Achievement Award from the National March of Dimes Birth Defects Foundation in 2001 and of the William Alan Award from the ASHG in 2012. Dr. Francke was a very early and passionate advocate of open science and remains so to this day. She even anticipated in her 1999 ASHG presidential address the growth of large-scale direct-to-consumer genomics and the use of biobanks for genomic research. She was also a vocal supporter of team science and the diversification of human genetics and other graduate education given the diverse skills likely to be needed in science in the future. We are indeed lucky to have such visionary and generous scientists in our society. Although human cytogenetics was a fertile ground for human genetics research that seemed to disproportionately attract women, quantitative human genetics was from its early days also a draw for a disproportionate number of women. Among the women who helped to drive and popularize this area of science were Jean MacCluer, M. Anne Spence, and Cathy Falk in the US and Françoise Clerget-Darpoux in France. They were greatly aided in this effort by visionary and effective NIH program officers such as Irene Eckstrand, who recognized early that population and quantitative genetics, genetic epidemiology, and statistical genetics would be linchpins for the success of genetic and genomic sciences. Beneficiaries of the environment these pioneers helped to create included Gruber Prize winner (2004) Mary Claire King and Curt Stern Award winner (2010) Vivian Cheung, not to mention all the rest of us. Jean MacCluer received her PhD in human genetics at the University of Michigan with William Schull. Dr. MacCluer and long-time partner Dr. Bennett Dyke were the first geneticists to be recruited to the Southwest Foundation for Biomedical Research in 1981, and Dr. MacCluer led the population genetics group there until she retired in 2008. Dr. MacCluer’s research was meticulously designed to maximize her ability to map and subsequently identify genetic risk factors for diseases of major (and often disproportionate) impact in US minority populations (Mexican Americans and Native Americans), as well as the associated quantitative traits that might be better-powered targets for gene mapping and identification. A testimony to the elegance of the original design of those studies is that many continue today, decades after their origin, under the guidance of one or another of her former trainees. As noted above, Dr. MacCluer directly mentored many human quantitative geneticists throughout her career, but she also developed the concept for a genetic analysis workshop that allowed her to contribute to the growth of the entire field. The genetic analysis workshops (GAWs as they are known) began in 1982 with an unusual format: they were actual workshops. Participants had to do at least an “iota” of work on the analysis of datasets that were provided in advance of the workshop. The intent was to deter exclusively theoretical contributions in favor of actual applications of new or existing methods to real (or simulated) data. In either type of data, the intent was to learn what we could about the performance of the methods by scrutinizing the similarities and differences among results from applications of different methods to data. When the data had been simulated, there was an additional element of testing how well the methods recovered information about the generating model, but it was always recognized that simulations are never likely to be as devilishly complex as reality. The proposal for a workshop was first suggested by Dr. MacCluer as she was refereeing an argument between Newton Morton and Robert Elston on the relative merits of their different approaches to segregation analysis. The workshops rapidly became a tradition—20 genetic analysis workshops have been held over the past 35 years. It is hard to overstate the value of the workshops in creating a more cohesive and interactive community in quantitative human genetics. The activities attracted an international group of participants, and GAWs have been held in the US and Canada, as well as in Europe. At an early stage of the workshops—between the first and second, perhaps, or the second and third—I remember a meeting whose goal was to assess how much participation there might be for the next workshop. Not only was participation well in excess of what Dr. MacCluer had hoped, but Anne Spence, who was tallying the total who said they would be likely to participate and attend, also reported that the headcount of likely participants was exactly evenly split between males and females. This was cause for great celebration among the organizers, who were, at least at that meeting, all women. Over the years, Rich Spielman and Max Bauer were among the workshop leaders with Y chromosomes, but Jean MacCluer, Cathy Falk, and Diane Waggoner did much of the heavy lifting for the organization of early meetings. Over many years in science, I observed Jean MacCluer to be one of the most effective boosters of young scientists I have ever known. Whether she was recommending someone for a study section or as a reviewer for a manuscript submitted to a prominent journal or recommending that someone attend NIH-sponsored scientific meetings or chair a scientific session, Dr. MacCluer was a selfless promoter of the next generations. But it is hard to thank her enough for the collegial landscape we enjoy in quantitative human genetics. If you do the “Jimmy Stewart – It’s a Wonderful Life” experiment, it is difficult to imagine another scientist who has had such a positive impact on her community. Human genetics without the environment that Jean MacCluer created and fostered in human quantitative genetics would be a very different, and much poorer, science. M. Anne Spence earned a BA in biology from Grinnell College in 1966. She completed a PhD at the University of Hawaii (1969) and then did postdoctoral work at the University of North Carolina with Robert Elston. Dr. Spence spent many years as a faculty member at UCLA and then moved to the University of California, Irvine, to continue her research, as well as service in some academic leadership roles. Although Dr. Spence had a long-standing research focus on autism and neurological and neuro-psychiatric disorders, sh
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