The ACC Distinguished Cytogeneticist Award is awarded every two years, at the biennial ACC meeting, to an outstanding leader in the field who has made a significant impact on the field of cytogenetics, with contributions including, but not limited to research, teaching and mentoring. These awardees have led the way in making our field what it is today, have created a legacy of distinguished ideas and methodologies, and have raised up new cytogeneticists to lead the future.
In 2018, the Awards Committee chose to bestow an Outstanding Service Award to Art Brothman, the first recipient for Outstanding Service to the ACC.
T. C. Hsu – 2000
Catherine Palmer – 2002
Ellen Magenis – 2004
Jean Priest – 2006
Orlando J. and Dorothy A. Miller – 2008
Gordon Dewald - 2010
Janet Rowley - 2012
Dorothy Warburton – 2014
Kathleen Rao - 2016
Stuart Schwartz - 2018
Art Brothman - 2018 Outstanding Service Award
Cynthia Casson Morton - 2020
Debra Saxe - 2020 Outstanding Service Award
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T. C. Hsu – 2000
Dr. T.C. Hsu was awarded the 1st American Cytogenetics Conference Distinguished Cytogeneticist Award at the 36th American Cytogenetics Conference held in Galveston, Texas. Highlights of the evening included presentations by Dr. Robert Baker, Dr. William Brinkley, Dr. James Mascarello, Dr. Sen Pathak and Dindy Ramkissoon. Dr. Hsu has made significant contributions to the field of cytogenetics and continues to work at the University of Texas/M.D. Anderson Cancer Center in Houston, Texas, USA.
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Catherine Palmer – 2002
Dr. Catherine Palmer was awarded the 2002 American Cytogenetics Conference Distinguished Cytogeneticist Award at the 37th American Cytogenetics Conference held in Santa Fe, New Mexico. Highlights of the evening included presentations by Dr. Gail Vance, Dr. Daniel Van Dyke, Dr. Nyla Heerema, Dr. Gordon Dewald, and Dr. Stuart Schwartz. Dr. Palmer has made significant contributions to the field of cytogenetics and has served as the mentor for many of the current clinical cytogeneticists.
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Ellen Magenis – 2004
The physician-cytogeneticist behind the disorder Smith-Magenis syndrome, Dr. Ellen Magenis has contributed significantly to the field of cytogenetics over the 35 years. From her early days of gene mapping to clinical diagnosis to microdeletion syndrome delineation, Dr. Magenis had taken advantage of each technological breakthrough, combined with her clinical acumen, to stay on the cutting edge of cytogenetic research and clinical testing. Born in Gary, Indiana in 1925, Dr. Magenis received her BA in zoology from Indiana University in 1946 and her MD from Indiana University Medical School in 1952. While serving in the role of devoted and nurturing other to her six children, Dr. Magenis completed a residency program in pediatrics at the University of Oregon Medical School (now Oregon Health and Science University) and then joined Dr. Fred Hecht for a 3-year fellowship in medical genetics. She became an instructor in the Department of Medical Genetics and the Crippled Children’s Division and quickly rose in rank to full professor in 1980. She is board certified in pediatrics by the American Board of Pediatrics, and in clinical genetics by the American Board of Medical Genetics. A founding fellow of the American College of Medical Genetics, she served in many editorial boards and had published over 150 papers, 120 abstracts and 20 book chapters. She has served as teacher and mentor to numerous medical students, graduate students, residents and fellows. On the regional level, Dr. Magenis served as Director of the Pacific Northwest Regional Genetics Group Cytogenetics Quality Assurance Committee. Nationally, she has been a member of the Southwest Oncology Group since 1985, serving as Chairman of the Cytogenetics Committee for eleven years, and filled the role of Chairman of the Germ Cell Tumor Cytogenetics Subcommittee, Children’s Cancer Group. Her devotion as advocate for patients and their families is evident locally and nationally by her efforts on the board of PRISMS (National Smith-Magenis Syndrome Association), the Angelman Syndrome Association, the Prader-Willi syndrome association, the Multnomah County Prader-Willi Project Advisory Group and the Prader-Willi Parent Support Group of Oregon. Dr. Magenis is currently contributing her expertise fulltime at Oregon Health and Science University as Professor of Molecular and Medical Genetics, Pediatrics and Child Development and Rehabilitation Center (CDRC), Medical Director of Cytogenetics for the Department of Molecular and Medical Genetics, CDRC. Dr.Magenis is Director of the Chromosome Clinic and a faculty geneticist for the Genetic and Birth Defects Clinic, CDRC, where she is a fully active clinician, continuing her tender patient care.
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Jean Priest – 2006
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Orlando J. and Dorothy A. Miller – 2008
Orlando (Jack) Miller, M.D. (1950, Yale) and Dorothy Anne (Sandy) Miller, Ph.D. (1957, Yale), are the co-recipients of the ACC’s Distinguished Cytogeneticist Award for 2008. While they have made significant independent contributions, their joint research has had a larger impact on human and mammalian cytogenetics. They have trained more than 60 graduate students and fellows, served on numerous editorial and scientific review boards, and published over 250 papers, aided by grants to one or the other as Principal Investigator from the NIH, NSF, March of Dimes, and other organizations. They have influenced two generations of geneticists during their more than 40 years of research, teaching and service.
Jack, an obstetrician and gynecologist, received training in genetics (1958–1960) with Professor Lionel S. Penrose at the Galton Laboratory, University College London. They helped usher in the field of human cytogenetics by reporting, with Charles Ford, the first XXY/21-trisomic male (1959) and, independently, an XXYY male (1961). Jack moved to Columbia University in 1960 and, with Roy Breg at Yale, found still more chromosomal causes of infertility and mental retardation, e.g., an XXXXY male (1961). Jack spent a sabbatical year, 1968–1969, with Professor Henry Harris at Oxford University. Using the new technique of Sendai virus-induced somatic cell hybridization, they produced the first evidence for the existence of tumor suppressor genes.
In 1964, when their children were 4, 6, and 8 years old, Jack’s wife Sandy joined his research group and played an increasingly important role, especially in chromosome banding, mapping and comparative cytogenetics. The O.J./D.A. Miller team were the first to use interspecific somatic cell hybrids with a chromosome banding technique to assign a gene to a specific autosome (1971). They were the first to identify every mouse chromosome by a banding technique, to assign most of the mouse linkage groups to specific chromosomes, and to develop a simple way to determine the centromeric end of mouse linkage groups (1971). With Dr. B.F. Erlanger, they produced Q-, G-, R- and other banding patterns using only antibodies to the nucleosides A, T, or 5-MeC (1972–1974). They demonstrated that the absence of human ribosomal RNA and lack of silver staining of the remaining human NORs in mouse-human hybrid cells is due to the loss of one or more non-acrocentric human chromosomes, the first evidence of species-specific rRNA transcription factors. They confirmed this with Dr. Carlo Croce by showing that in rodent-human ‘reverse’ hybrids that tend to lose rodent chromosomes only human NORs are silver stained and only human 28S rRNA is transcribed (1976–1977). The Miller group discovered, in two cancer cell lines and as a normal human variant, homogeneously staining regions (HSRs) containing amplified ribosomal DNA. In all of these cases, most of the amplified rRNA gene copies had been inactivated by massive DNA methylation (1981). Dr. D.A. Miller led comparative studies on great ape chromosomes and their evolution (1977), studies on chromosome-specific human and mouse satellite DNA sequences (1990, 1991), and comparative mapping of human and a marsupial by in situ hybridization with human gene probes (1994).
Jack served on the editorial board of Cytogenetics (1961–1972), American Journal of Human Genetics (1969–1974 and 1980–1983), Human Genetics (1978–1998), and Chromosome Research (1994–1997). He was associate editor of Cytogenetics and Cell Genetics (1972–1996) and of Genomics (1987–1993). He served on scientific advisory committees for the National Foundation – March of Dimes (1967–present), the American Cancer Society (1974–1978 and 1986–1990), and the NIH (most recently, 1991–1994, on the Human Genome Study Section). Sandy served on the editorial board of Cytogenetics (1978–1984 and 1992–1996) and was an ad hoc reviewer for more than a dozen other journals.
Jack was Professor of Obstetrics and Gynecology and of Human Genetics and Development at Columbia University from 1969 to 1985. In 1982 he was certified in both Cytogenetics and Medical Genetics by the founding American Board of Medical Genetics and served as President of the ABMG in 1985 and 1986. In 1985 the Millers founded the Department of Molecular Biology and Genetics at Wayne State University School of Medicine in Detroit, Michigan, he serving as Chair and she as Professor. In 1983 Sandy had a sabbatical at the MRC Clinical and Population Cytogenetics Research Unit, Edinburgh, UK. She was Visiting Professor, Department of Genetics and Molecular Biology, University of Rome ‘La Sapienza’ in 1988 with Professor A. de Capoa and Distinguished Visiting Fellow in the Department of Genetics and Variation, LaTrobe University, Australia in 1991 with Professor Jennifer Marshall Graves. Jack and Sandy retired in 1996, but continue to periodically attend and contribute to scientific meetings.
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Gordon Dewald - 2010
Dr. Gordon Dewald was a native of North Dakota. He earned a BS at Jamestown College in 1965, and an MS in biology in 1968 and a PhD in cytogenetics in 1972 at the University of North Dakota (UND) in Grand Forks. Like many of his contemporaries, his early training in cytogenetics employed non-banding chromosome staining methods and focused on organisms other than humans. His MS research established the karyotype of two subspecies of muskrats. His PhD research focused on meiotic studies of two species of bluestem prairie grasses. Dr. Dewald began his career in human cytogenetics at the beginning of the ‘banding era’ in the Pathology Department of UND during the completion of his graduate studies. In this capacity he developed Q- and G-banding methods and used them to study patient specimens referred to the state cytogenetic laboratory.
In 1972 Dr. Dewald moved his family to Rochester MN to begin a fellowship with Dr. Hymie Gordon in the Department of Medical Genetics at Mayo Clinic. His mission was to create a modern clinical cytogenetics laboratory for congenital disorders and to develop a computerbased videodensitometric method to digitize and analyze human chromosomes. His early publications predominately reflect his efforts to (1) develop chromosome banding techniques and implement modern cytogenetics into clinical practice, (2) define the embryological derivation of chimeras, (3) study the origin and behavior of structural abnormalities of X and Y chromosomes, and (4) automate chromosome analysis of human chromosomes. By 1973 this laboratory for congenital disorders was fully operational and Dr. Dewald was named its director.
In 1979 Mayo Clinic merged the cytogenetic laboratories for congenital disorders and hematological malignancies directed by Dr. Robert Pierre. Dr. Dewald was assigned director of this new laboratory. To accomplish the mission statement of Mayo Clinic, Dr. Dewald included education, research and clinical practice in the new laboratory. Over the years Dr. Dewald trained hundreds of cytogenetic technologists, taught countless fellows/residents in medical genetics, hematology and pathology, and annually delivered numerous lectures in the Mayo Medical School. In recognition of his efforts to train over 400 successful technologists and for his numerous contributions to cytogenetics and the Association of Genetic Technologists (AGT), he was awarded a life time achievement award by AGT in 2002. He also received an Outstanding Scientist/Physician Award in 2007 from the Mayo School of Health Sciences for his efforts in education and for his role in developing a formal cytogenetic technologist education program at Mayo Clinic.
Dr. Dewald became a leader in the cytogenetics quality assurances program of the Great Lakes Regional Genetics Group (1986–2000). He was invited in 1985 to be a founding member of a new committee of the College of American Pathologists (CAP) to create a national proficiency testing program in cytogenetics. He served on this committee for 20 years and was instrumental in the evolution of the CAP/ACMG (American College of Medical Genetics) proficiency testing program that exists today.
Beginning in 1975, Dr. Dewald became interested in chromosome abnormalities in malignant disorders. After 1979, his enthusiasm and opportunities for this subject grew significantly because cytogenetic studies of hematological malignancies became a major part of his clinical practice. His reputation for cytogenetic studies of malignant disorders led to invitations to participate in several International Workshops on Chromosomes in Leukemia and Lymphoma. Dr. Dewald promoted cytogenetic studies of malignant disorders through his role as chair of the Scientific Committee in the Chronic Myeloid Leukemia National Study Group (1995–1999), chair of cytogenetics in the Eastern Cooperative Oncology Group (1995–2006), chair of cytogenetics in the Chronic Lymphocytic Leukemia Research Consortium (2003–2006), and vice chair of the Cytogenetic Working Group to study Myelodysplasia (MDS) formed by the MDS Foundation (2005–present).
The emergence of techniques to visualize chromosome loci using fluorescence-labeled DNA probes (FISH) became important in the 1990’s. Dr. Dewald’s publication record attests to the fact that he was a pioneer in this field. He became well known through his publications and lectures for his efforts to validate new FISH assays and the implementation of this technology into routine clinical practice. He helped to formally define written methodologies to validate FISH methods for clinical practice in his capacity as vice-chair of the National Committee for Clinical Laboratory Standards subcommittee established for this purpose (1998–2000), and his continual interactions with the ACMG and CAP.
Mayo Clinic has rewarded Dr. Dewald for his 35 years of successful work in many ways. He was a two time professor in the Mayo Clinic College of Medicine; Medical Genetics and Laboratory Medicine. He was the founder and first Chair of the Division of Laboratory Genetics (includes laboratories of cytogenetics, molecular genetics, biochemical genetics and fertility testing) at Mayo Clinic: he served in this capacity for 12 years (1992–2003). In 1996, the Department of Laboratory Medicine and Pathology awarded him a distinguished career award for his contributions to the field. Dr. Dewald was elected President of the Sigma Xi Mayo Clinic Chapter (2005–2006) by his peers, served on the board of the Mayo Medical School, helped to introduce cost-effective genetic testing strategies within Mayo Clinic, and participated in many other important functions of Mayo Clinic.
Mayo Clinic’s principle maxim is ‘the needs of the patient come first’. This concept has been fundamental in the way that Dr. Dewald practiced clinical cytogenetics. In addition, the primary goal of his research projects has been to change clinical practice for the improvement of patient care. Dr. Dewald has published over 270 papers on his research, lectured in many countries and is respected for his expertise in clinical cytogenetics by cytogeneticists and physicians world wide.
It is with great sadness that we learned Dr. Dewald passed away on the evening of Friday, February 26, 2010 after a long courageous battle with acinar cell pancreatic cancer. Gordon is survived by his loving wife, Laurel, his daughter Stephanie Ann Dewald of Chicago, and his sons Anthony (Tony) and David and their families. He is also survived by his brother Stevan and sister Doris Dewald Hagel. Gordon is preceded in death by his parents, two brothers, and a sister. His family remembers him as a loving, affectionate, and devoted husband and father. As someone once said of other great losses, ‘we shall not see his like anytime soon’.
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Janet Rowley - 2012
During this, the 2012 American Cytogenetics Conference, we honor the career of Janet Davison Rowley, a physician, scientist, and a founder of the field of modern cancer cytogenetics. Her contributions span over half a century and are represented by more than 400 publications, numerous awards and honors, among which are the American Society of Human Genetics Allan Award and the Presidential Medal of Freedom. Dr. Rowley has been a driving force for understanding the biological importance of chromosomal translocations and much of her most significant work has influenced the way leukemias and lymphomas are diagnosed and treated. Her seminal discoveries of translocations associated with different types of leukemia have become part of the standard of care in determining the optimal treatment for every leukemia patient. Her work on translocation breakpoints has shaped our biological understanding of the role of genes in cancer and has provided tools to track the effectiveness of treatment. Dr. Rowley’s study of translocations was also instrumental in the expansion of the fields of molecular genetics and molecular oncology and her continuous quest for the answers to fundamental questions led directly to the work she does now in the molecular biology of microRNAs.
Part of Janet Rowley’s success entails a woman who was at the right place at the right time. In 1940, she received a scholarship to college in a special program at the University of Chicago which combined the last two years of high school with the first two years of college. Thus, she enrolled as an undergraduate at age 15 and earned a PhB (1944), BS (1946) and MD (1948) at the University of Chicago. Her education in medicine did not start so easily; her entrance to medical school was delayed by a year because the quota for women (three) was filled. She graduated in 1948 and a day after graduation she married Donald Rowley. Janet completed a one year internship at a Public Health Service hospital before moving to Bethesda, Maryland where Don had accepted a position at the NIH. After three years, the couple returned to Chicago and Janet resumed her work part-time in well-baby clinics when Don began working as an experimental immunologist on faculty at the University of Chicago. In 1956 Janet took a job at a Cook County Hospital clinic working with children with developmental disabilities such as Down syndrome. Soon after, trisomy 21 was discovered to cause Down syndrome and she was inspired to study cytogenetics as a medical specialty.
Janet got her first chance to conduct research when Don took a sabbatical year in Oxford in 1961. Ever resourceful, she won a special fellowship from the NIH to study cytogenetics at Churchill Hospital in Oxford. This was extremely fortuitous timing, as the field was in its infancy and scientists were just beginning to explore chromosome replication. Her productivity was amazing— between 1962 and 1964, she published four seminal papers, and was first author on two (cited in Rowley, 2009). But what is more amazing is how she managed to do the analysis at this early stage in her career while also caring for four children.
After returning to Chicago, she obtained support from Leon Jacobson, a hematologist who had become an expert on the effect of radiation on blood cells from monitoring physicists working on the Manhattan project, just a couple blocks from the University medical center. Thanks to a stipend from the Atomic Energy Commission she could analyze the chromosomes prepared in Sweden and England. Janet rose through the ranks becoming Professor of Medicine at the University of Chicago in 1977. She is currently the Blum-Riese Distinguished Service Professor of Medicine, Molecular Genetics & Cell Biology, and Human Genetics.
It was after the family’s second stay in Oxford during 1970-1971 that Janet made her most significant discoveries. At Oxford she learned banding by quinacrine fluorescence and applied this technique upon returning to Chicago. Within the next couple of years she demonstrated that the small Philadelphia chromosome was actually a translocation between two chromosomes, hence characterizing for the first time the t(9;22). She had already described the recurring abnormality t(8;21) in 1972, and this second translocation convinced her that these were critically important in leukemia. Discovery of the t(15;17), t(6;9) and t(14;18) in lymphoma would soon follow.
Janet states in a detailed review (Rowley 2009), “This was a time of great excitement and wonder that is hard to describe.” Collaborating with many colleagues, including those involved with the International Workshops during the 1970’s and 1980’s, several main themes emerged which changed the way researchers and clinicians treat leukemia and lymphoma. Not only are there recurrent chromosome abnormalities, but they often strongly associate with specific phenotypes of leukemia and lymphoma, including the presence of cytogenetic-clinicopathologic entities. The phenotype even extends to how well patients respond to therapy, and the karyotype is a powerful independent predictor of survival.
In the three decades since, Dr. Rowley and her colleagues have discovered the MLL gene, characterized genomic breakpoints, and used cutting-edge microarray technology in the study of leukemia translocations. More recently, she has entered into the world of microRNAs. Her pace has not slowed in the lab; her goal remains to find the best treatments for leukemia: targeted and personalized. She has continued to pursue the answers to fundamental questions yet to be resolved: what causes translocations, and what are the critical steps of leukemogenesis?
As noted above, Janet Rowley has received numerous awards. We are very pleased to now add the American Cytogenetic Conference’s Distinguished Cytogeneticist Award to this list.
FURTHER READING: Reminiscences and summaries of early work
Chandra HS, Heisterkamp NC, Hungerford A, Morrissette JJD, Nowell PC, Rowley JD, Testa JR. 2011. Philadelphia chromosome symposium: Commemoration of the 50th anniversary of the discovery of the Ph chromosome. Cancer Genet. 204:171-179.
Rowley, Janet D. 2008. Chromosomal translocations: revisited yet again. Blood 112:2183-2189.
Rowley, Janet D. 2009. Chromosomes in leukemia and beyond: from irrelevant to central players. Annu. Rev. Genomics Hum. Genet. 10:1-18.
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Dorothy Warburton – 2014
During this, the 2014 American Cytogenetics Conference, we honor the career of Dorothy Warburton, PhD, a founder of the field of human pre- and postnatal cytogenetics. Her contributions span over half a century, which include serving on the Founding Board of the American College of Medical Genetics and the International Committee on Cytogenetic Nomenclature. For her work in human genetics and cytogenetics, she was awarded the William Allan Award in 2006, one of only five women recipients. Dorothy has been a driving force for understanding the biological importance of aneuploidies and spontaneous abortion in human development, health and disease.
Dorothy was born in Canada, and was interested in biology and natural history from childhood, as attested to by the dead animals she brought home to dissect and her frequent attempts to organize her friends into a ‘Nature Club’. She entered McGill University in Montreal as a Biology major but switched to a Genetics major after taking her first genetics course. At that point she was hooked. McGill was at that time one of the few places in North America where one could major in Genetics and also pursue a PhD in Human Genetics. Dorothy’s mentor at McGill was Clarke Fraser, who founded one of the first Departments of Medical Genetics at the Montreal Children’s Hospital. He introduced her to the scientific method, and also to the field of genetic counseling. Dorothy’s second area of interest was mathematics and statistics, and this played well into the human genetics of the day, which was largely based on diagnosis and risk estimates. Throughout Dorothy’s career, the over-all theme has been the application of rigorous statistical and epidemiological principles to the study of human chromosome abnormalities.
When Dorothy began working on her PhD thesis subject on the epidemiology of spontaneous abortion, human cytogenetics did not yet exist, nor did the knowledge of the importance of cytogenetic abnormalities to reproductive loss. She did, however, hypothesize that aneuploidy would explain many of the features of spontaneous abortions. When Carr did discover the major role played by chromosome abnormalities in 1964, it was obvious that further analyses of spontaneous abortions required a knowledge of cytogenetics.
Dorothy had married Toney Warburton, a fellow graduate student, in 1957. By the time they had both received their PhDs in 1963, the family included three children. Toney accepted a job in New York at Barnard College and Dorothy was lucky to be accepted into the lab of O.J. (Jack) Miller in Ob-Gyn at Columbia Medical School. A fourth child was born in New York. There she learned cytogenetic techniques and also was stimulated to think scientifically about human chromosomes. The field of human cytogenetics was new and exciting: karyotypes were the next-gen sequencing of the day. The field was small and everyone knew each other, and it was also immediately international in scope with major players in France, Canada, Germany, and Italy.
The ability to make chromosome preparations from blood samples soon made clinical studies possible. The demand from clinicians soon overgrew the abilities of research labs to comply. In 1969, Dorothy began one of the earliest hospital-based cytogenetic labs at Columbia- Presbyterian, with just one technician and herself, a microscope, a darkroom, and no computers. The lab was one of the first in the country to adopt G-banding procedures, and new discoveries of abnormalities such as insertions, dicentrics and paracentric inversions followed. Dorothy collaborated with Anne Henderson and Kim Atwood in one of the first studies to use in situ hybridization (radioactive label) to localize human genes (the rDNA genes). The group went on to study primate chromosomes, examining the evolution of the sites and numbers of the rDNA genes. This led to Dorothy’s involvement in the Human Gene Mapping group, where she eventually became curator for chromosome 13, and developed a series of single-chromosome hybrids for use in mapping.
In 1975, Dorothy began a collaboration with Jennie Kline and Zena Stein, returning to the past in a large 10- year epidemiological study of karyotyped spontaneous abortions. Unfortunately, this carefully controlled analysis ended up finding no factors other than maternal age that could be correlated with losses of particular karyotypes. They did show, unexpectedly, that the 45,X karyotype was associated with young maternal age. This study essentially showed that none of the obvious environmental factors such as smoking, alcohol, legal and illegal drugs, or occupation affected the risk of spontaneous abortion. This, plus the lack of any differences in statistics among races, geographical regions or socio-economic groups, led Dorothy to the idea that most reproductive loss is not due to a pathological condition, but rather to a programmed design set in our DNA.
Jennie and Dorothy continued to work on the causes of aneuploidy, following up Dorothy’s proposal in 1989 of the ‘limited oocyte pool’ hypothesis to explain the effect of maternal age on aneuploidy frequency. Carefully controlled studies on women with and without a trisomic loss explored the relationships between antral pool size and hormone levels: the most recent evidence is in favor of an association of FSH level with trisomy which is not mediated by oocyte pool size. She has also shown that the reported association of spontaneous abortion risk with skewed X-inactivation does not occur when rigorously controlled.
Dorothy was always concerned that good data were not available for counseling even in relatively common situations, such as a history of trisomy, or the presence of an apparently balanced translocation or a marker chromosome in prenatal diagnosis. Her multiple site studies of these questions provide risks commonly used today in genetics counseling. She speaks out whenever she sees data being used inappropriately, such when the biases of ascertainment are not considered in describing outcome, and her own work is always carefully controlled and analyzed. Dorothy has always embraced new technology as it has entered cytogenetics, from banding to in situ to FISH to microarrays. She believes that cytogenetics is defined by the questions it asks not by the techniques it uses. She was one of the first to publish on the clinical uses of microarrays, and has just completed, with Mike Ronemus and Mike Wigler, a survey of CNVs in two classes of congenital heart disease that shows a 5× increase in de novo CNVs over controls.
Dorothy admits that the time may be coming for her to retire, but she has so far been persuaded not to by the pleasure she still finds in teaching, research and the day to day operation of a clinical lab, which continuously produces new findings and new puzzles. — Peter E. Warburton, PhD
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Kathleen Rao - 2016
During this 2016 American Cytogenetics Conference we honor the career of Dr. Kathleen Rao, who was born in New York City and raised in Roanoke Va. While she initially attended the Medical College of Virginia School of Nursing, she quickly determined this was not a good career fit and transferred to the College of William and Mary where she received her BS in Biology in 1970. Following college Dr. Rao entered graduate school in the Department of Zoology at the University of North Carolina at Chapel Hill (UNC-CH) where she spent one semester in a laboratory that studied leaches and tarantulas. Again sensing a poor match, Dr. Rao decided to postpone graduate school, get a job and rethink her career options. Thankfully, given the choice of an entry level position as an AT&T telephone operator or a position as a technician in the new Clinical Cytogenetics Laboratory at UNC-CH, Dr. Rao chose the latter. From 1971 to 1976 she functioned as both senior technician and supervisor in this laboratory with Dr. Phil Buchanan, and a cytogenetic superstar was born. While here, she perfected the art of cell culture, and learned to analyze and karyotype both solidly stained and later Q-banded chromosomes. Having identified her passion Dr. Rao’s re-entered graduate school as a student in the Genetics Curriculum at UNC-CH where she worked in the laboratory of Dr. H. Neil Kirkman, an internationally known biochemical geneticist. She earned her PhD in 1980 and accepted her first faculty position at East Carolina University in Greenville, NC where she established their first clinical cytogenetics laboratory and functioned as the Laboratory Director until 1984. It was here that she learned the art of G-banding, a technique that she brought to UNC-CH when she returned in 1984. From 1984 until her death Dr. Rao rose through the ranks to become a tenured professor in the Departments of Pediatrics and Pathology & Laboratory Medicine, and a research professor in the Department of Genetics while also serving as Director of the Cytogenetics Laboratory at UNC Hospitals.
During her long career, Dr. Rao made numerous contributions to not only the field cytogenetics but to the broader field of medical education. She was a member of the ad hoc committee established to form the North Carolina Medical Genetics Association which advocates for genetic education, and promotes both the sharing of genetic information and the availability of high quality comprehensive genetic services for the citizens of NC. She was a member of this organization from its inception in 1984, and served as President from1990-1991. Dr. Rao was also a primary mover in developing cytogenetics proficiency testing long before the College of American Pathologists (CAP) provided this service. She served as coordinator for the Southeastern Regional Genetics Group (SERGG) Cytogenetics Laboratory Proficiency Testing Program (1986-1990) and was a member of the Council on Regional Networks (CORN) Quality Assurance Committee (1995-1998). Dr. Rao was also a Founding Fellow of the American College of Medical Genetics and Genomics (ACMG) and served as a member of the ACMG’s Laboratory Quality Assurance Committee (2003-2010). From 2007 to 2010 she functioned as Chair of this group, restructuring the single large committee into the productive subcommittees that exist today. As Co-Chair of the ACMG Salary Survey Work Group (2006-2008) and a workgroup member (2008-1010), she was instrumental in establishing the first and only salary survey specific to board certified medical geneticists. Dr. Rao also served on the ACMG Board of Directors (2009-2015), functioning as the Board Liaison to the Laboratory Quality Assurance Committee while also serving as the Vice President for Laboratory Genetics (2013-2015). Additionally, she was an ACMG representative to the CAP Cytogenetics Resource Committee (1998-2005) serving as Vice Chair from 2003 to 2005. She was twice elected as a member of the International Standing Committee on Human Genetic Nomenclature (2007-2016).
Dr. Rao served as head of the Cytogenetics Committee of the Children’s Oncology Group (COG) from 2011 until her death. She served on the COG Cytogenetics Review Committee since the inception of COG; and previously served on the Children’s Cancer Group Cytogenetics Review Committee. In addition to her efforts in these administrative roles, Dr. Rao contributed to COG and to advancing knowledge of pediatric cancer both as a devoted mentor and as an exceptional cytogeneticist. Numerous former trainees are now directors of COG-approved cytogenetic laboratories, and at the bi-yearly COG cytogenetics workshops, she continued to mentor and to teach with her informative and popular "You do the Review" presentations. It was Dr. Rao’s laboratory that detected the very subtle deletion within 5q that provided the foundational work for the exceptional case that served as a prototype for Ph-like acute lymphoblastic leukemia cases that responded to a TKI therapy; just one of thousands of outstanding analyses performed in her laboratory and interpreted by her. Dr. Rao also participated in the Cancer and Leukemia Group B (CALGB)/Alliance for Clinical Trials in Oncology as the longest serving member of the Karyotype Review Committee (1986-2016), and as a member of the Leukemia/Lymphoma Correlative Sciences Committee (1988-2000).
In her role as an educator Dr. Rao was a great advocate for medical education at all levels. She was a leader in medical student education and curriculum design at UNC-CH, and both founded and co-directed the UNC School of Medicine’s Academy of Educators which supports and enhances the careers of teaching faculty. In recognition of these contributions a grant program for innovative teaching projects was named in her honor. As Director of the Cytogenetics Laboratory Fellowship Training Program at UNC-CH she taught and mentored numerous students who now work in the field throughout the U.S. Countless others including medical students, residents, genetic counselors, and technologists were also mentored. Kathleen was also a strong advocate for fixed term (non-tenured) faculty. She recognized the importance of these individuals and participated in multiple task forces at UNC-CH to improve the recruitment, retention and support of these individuals.
Throughout her career Dr. Kathleen Rao contributed to the standards, guidelines, and proficiency testing practices which are now the cornerstones of our field and part of her legacy. Dr. Rao leaves behind multiple well trained cytogeneticists, and countless others, with whom she shared much, including her appreciation for a beautiful karyotype or a long, complex, and correctly written string of nomenclature, her strong work ethic, her sense of collegiality and professionalism, and her very strong belief in the importance of good patient care. Her leadership, extensive knowledge base, sense of humor and kindness will be missed.
Submitted by Kathy Kaiser-Rogers, PhD and Nyla Heerema, PhD -
Stuart Schwartz - 2018
During this 2018 American Cytogenetics Conference we celebrate our Distinguished Cytogeneticist, Dr. Stuart Schwartz. Stuart was raised in Philadelphia and was very happy to see his beloved Eagles go all the way this year! He received his BS degree from the Pennsylvania State University and a MS degree in chemistry from St. Joseph’s University. Quickly deciding that he did not want to be a bench chemist, he chose to be trained in a medical science and Cytogenetics seemed to be a good fit. He received his PhD from the Indiana University School of Medicine under the direction of Dr. Catherine Palmer, the 2002 Distinguished Cytogeneticist awardee. In 1982, Stuart took a postdoctoral position with Maimon Cohen who had just been recruited to The University of Maryland at Baltimore (UMAB) Medical Center as the founding Director of the Division of Human Genetics. Thus, Stuart’s postdoctoral training consisted of setting up and running a new Clinical Cytogenetics laboratory. It was a natural progression that Stuart took over officially as the Director of the UMAB Clinical Cytogenetics laboratory when his “training” period ended and he received his American Board of Medical Genetics certifications in Clinical Cytogenetics and Medical Genetics. He remained at UMAB as an Assistant and then Associate Professor of Ob/GYN and Pediatrics. During his tenure at UMAB, Stuart was astute enough to recognize the clinical utility of the new technique that we affectionately call FISH. He arranged for Dan Pinkel to hold the first workshop on FISH methodology so that others could learn from the originator. He quickly instituted this new technology into his clinical and research laboratories and worked with a small nascent company, Vysis, to help to develop relevant FISH probes. Stuart was recruited by Huntington Willard to Case Western University to be one of the founding faculty of the Department of Genetics. He inherited a wonderful Clinical Cytogenetics laboratory and under his tutorage, this clinical service grew exponentially to include FISH and Molecular Genetics. Here he mentored numerous Fellows in Cytogenetics and Molecular Genetics, wisely encouraging his trainees to obtain certification in both. After a brief time as professor of Human Genetics, Medicine, and Pathology at the University of Chicago, he moved to the Laboratory Corporation of America (LabCorp) to take a position as the strategic director of Cytogenetics, which allowed him to continue with academic pursuits in educating clinicians and amassing large datasets to better understand chromosome aberrations to assist with patient care. He has recently taken over as the Senior Director of Cytogenetics at LabCorp.
Stuart is the consummate academic clinician/educator, contributing greatly to the field of Cytogenetics through his clinical service, educational endeavors and his research. Stuart’s entire career has been dedicated to providing high quality clinical services for patients. He has been a Clinical Cytogenetics and Molecular Genetics laboratory director for over 30 years, providing full service constitutional and oncology studies. Stuart has also always been interested in the structure and function of chromosomes, initially using FISH analysis for characterization and more recently microarray analysis. His translational research characterizing aberrant chromosomes in patients, including the study of marker chromosomes, neocentromeres and cryptic rearrangements, has led to the publication of 181 peer reviewed publications and 24 invited chapters. Numerous graduate students, postdoctoral fellows in Clinical Cytogenetics and Clinical Molecular genetics and genetic counseling students have been mentored by Stuart. During the past 9 years, he has been involved in the development and improvement of SNP microarray technology and local implementation of this technology in pediatric, prenatal and oncology testing at LabCorp. This involvement has led to his strong advocacy for the global acceptance of microarray as a routine technology in the laboratory.
Stuart has also served the greater community of Cytogenetics including his tenures on several professional boards. He was a Cytogenetics representative to Board of Directors and a Past President of the American Board of Medical Genetics. He was on the Board of Directors and is the former President of the Cancer Genomics Consortium. Stuart served as the Cytogenetics section editor for both the American Journal of Medical Genetics and for Genetics in Medicine and has been a reviewer for numerous journals.
Stuart not only found his perfect career choice in Indianapolis but also found his life partner, Sharon, his wife of 39 years. Sharon, is an assistant director of a Dietetic internship program with the food management company, Sodexo. They have two married children, Rachel and Matthew. Rachel and Alan have been married for 10 years. Matthew and Miriam will soon be celebrating their first anniversary. Both of Stuart’s children inherited his love of education. Rachel earned a Master’s degree in early childhood education and is currently a preschool teacher at the Norwood school, a private school in Maryland. Matthew obtained a PhD in Genetics and is a lecturer at Simmons College, in Boston. Stuart could also be awarded the Distinguished Father Award. His passion has always been his family and although he was always busy with is career he never missed a school event, extracurricular activity, or Hebrew school event for the kids.
It is truly an honor and a pleasure to witness such a humble and worthy colleague and friend being recognized with the Distinguished Cytogeneticist Award. Submitted by Daynna J. Wolff and Jim Tepperberg -
Art Brothman - 2018 Outstanding Service Award
Art’s commitment to the American Cytogenetics Conference which has spanned over 30 years, from when he first chaired a session on Cancer Genetics at the 1987 Annual Meeting of Somatic Cell Genetics in Santa Fe. This, however, was not his first meeting with this group of both human and other animal cytogeneticists who had been meeting under the name of Somatic Cell Genetics Conference since 1961. He has been attending and participating in this conference since the late 1970's. During these many years with the conference, Art has been on the Program committee or chaired the meetings four times, at Norfolk, VA in 1988, Lake Tahoe, NV in 1991, Virginia Beach, VA in 1992, and Snowbird, UT in 2018. Along with organizing the meeting, he has chaired or moderated a session for more than a quarter of the meetings since 1987. When cytogenetics officially incorporated to a genetics organization in 2005, Art served as a founding member of the Board of Directors of the new American Cytogenetics Conference. As such, he was instrumental in developing the mission and goals of the organization. He has continues to play an active role in ACC to this day.
Art not only brings a wealth of knowledge, energy, and unique ideas, but also a marvelous sense of humor to ease the work that needs to be accomplished. However, his most admirable trait is his ability to maintain a healthy balance between work and leisure, which has been central to the success of the American Cytogenetics Conference.
Art has been an invaluable contributor and sustainer of the organization for so many years, even coming out of retirement to chair the planning committee at the 2018 meeting in Snowbird. It is truly a pleasure and a privilege to bestow the first Outstanding Service Award from the American Cytogenetics Conference to such a dedicated and deserving colleague.
Submitted by Debra Saxe
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Cynthia Casson Morton - 2020
The 2020 American Cytogenetics Conference recognizes Cynthia Casson Morton with our Distinguished Cytogeneticist Award. Cynthia was born in Atlanta where she lived until age 5, when her family moved to Miami. Five year later her family relocated to Easton, Maryland. Cynthia and her 3 younger siblings were raised in this small town on the eastern shore of the Chesapeake Bay, noted for its annual Waterfowl Festival. Cynthia received a bachelor’s degree in Biology from the College of William and Mary and a doctorate in Human Genetics at the Medical College of Virginia, studying human cytogenetics in the lab of Dr. Judy Brown. Early on Saturday mornings in Richmond, Cynthia could be found at “Twin Clinic” assisting Dr. Walter Nance in the collection of biometric and cognitive data on monozygotic and dizygotic twins. Cynthia completed a postdoctoral fellowship in Dave Kurnit’s lab at Children’s Hospital at Harvard Medical School, followed by a fellowship in Phil Leder’s lab in the Department of Genetics at Harvard.
Apparently, life in Boston agreed with Cynthia, as she stayed on as the director of the Director of the Cytogenetics Lab at Brigham and Women’s, and as Professor of Pathology and William Lambert Richardson Professor of Obstetrics, Gynecology and Reproductive Biology at Harvard Medical School. She also serves as the Chair of Auditory Genetics at the University of Manchester, England.
Cynthia has a well-earned reputation as a trailblazer and has made significant contributions to both clinical and basic research in human genetics, concentrating in the categories of gene mapping; clinical cytogenetics; hearing and deafness; uterine fibroids; and chromosomal structural rearrangements.
She was one of the first cytogeneticists to use chromosomal in situ hybridization in gene mapping. Her research assigning the IGH locus to 14q32, circa 1982, followed by the localization of MYC to 8q24, was crucial to understanding the pathobiology of Burkitt lymphoma. In over 80 papers, she contributed to greater than 100 gene assignments. She actively participated in the Gene Mapping Workshops and was Chair of the committee for chromosome 15
As a clinical cytogeneticist, Cynthia championed the introduction of solid tumor cytogenetics into the clinical cytogenetics laboratory in the 1980’s. Along with her first fellow, Dr. Jonathan Fletcher, she established this lab service and BWH Cytogenetics became recognized worldwide as a leader in this area. She continues to change the field of clinical cytogenetics by implementing next-generation sequencing into characterizing structural chromosome rearrangements at the nucleotide level. Four manuscripts published in The American Journal of Human Genetics illustrate her continual innovation: the first in 2014 set out a system for the next chapter of the International System for Cytogenetic Nomenclature (ISCN) to provide a next-gen cytogenetic nomenclature, the second in 2016 is a game changer in the interpretation of phenotypes from structural chromosome rearrangements based on their position with respect to topological associating domains (TADs) in chromatin, the third in 2017 presents computational methods to discover genetic etiologies in chromosomal rearrangements residing in non-genic regions that inform clinical diagnoses, and the fourth reveals the value of implementing liGS in diagnosing the complexity of chromosomal abnormalities in recurrent miscarriage. She was elected in 2019 to serve as one of two members from North America to the ISCN Committee.
Following on with her interest in solid tumor cytogenetics, Cynthia’s laboratory was among the first to describe consistent chromosome rearrangements in uterine leiomyomata and used these rearrangements in gene discovery experiments illuminating HGMA2 dysregulation in the most common translocation in these tumors. In addition to other successful gene discovery experiments in fibroids, she pursued genetic linkage analysis and genome-wide association studies in uterine fibroids that resulted in identification of FASN as the first risk allele for white women to develop uterine fibroids. Her laboratory has completed in vitro experiments with fatty acid synthase inhibitors and is now performing in vivo experiments with the goal of conducting a clinical trial to develop a medical therapy for these neoplasms. Most recently she has led and published the largest GWAS in uterine fibroids identifying dozens of genome-wide significant hits and revealing common genetic origins between uterine leiomyomata and endometriosis. Another major effort of Cynthia’s lab has been to use apparently balanced structural chromosome rearrangements in individuals with clinical disorders to discover genes involved in human development. DGAP (Developmental Genome Anatomy Project) has been a major success resulting in annotation of over 150 human genes, description of chromothripsis, and transition of this technology using NGS into clinical diagnostics for prenatal diagnosis. Many of us who have contributed patients to the DGAP project have benefited from this area of Cynthia’s research. Cynthia was recognized for her vast contributions to clinical cytogenetics from her research and her leadership in her election as a Fellow of the AAAS with the citation, “For distinguished contributions to the field of cytogenetics, particularly for pioneering technologies to study structural chromosome rearrangements and their relations to human disease.”
Cynthia’s laboratory made a significant contribution to the field of auditory genetics by establishing the first human fetal cochlear cDNA library. This resource and the derived ESTs have been used by investigators worldwide. Her laboratory's isolation and characterization of COCH (etiology of DFNA9) was an initial discovery that became an ongoing area of research and has now evolved into gene editing to cure genetic forms of deafness. Cynthia has been a champion of an etiologic focus in newborn hearing screening, and she is now implementing genomic sequencing into newborn hearing screening in three Boston hospitals. In the past year, she co-led the Newborn Hearing Screening Working Group of the National Coordinating Center for the Regional Genetics Networks and published a proposal for comprehensive newborn hearing screening to improve identification of deaf and hard of hearing children. She has co-authored two large studies in China validating the need for genetic screening in newborn screening for hearing loss.
In addition to her laboratory successes, Cynthia has served on the Board of Directors of both the American Board of Medical Genetics and the American Society of Human Genetics and is a Past President of ASHG. She has been the editor of The American Journal of Human Genetics; and is currently co-editor of Human Genetics and serves on the editorial boards of Genes Chromosomes Cancer, Am J Hum Genet, Hum Genet, Appl Clin Genet, Audiol & Neurotol, Int J Women’s Health, Cancer Manage & Res, Mol Syndromology.
Cynthia lives in Newton, MA, with her husband of 39 years, Bill. Their son Russell and his wife Emilie live in Ann Arbor where Russell is completing a doctorate in Economics. Their daughter Emily is at Stanford working on a doctorate in Development and Psychological Sciences. Anyone who knows Cynthia knows that her hobby is ‘work’, which she considers a special privilege. She also enjoys traveling – this includes traveling to England for her job at the University of Manchester - and traveling with family and friends. Cynthia and Bill also enjoy entertaining in at home, providing fabulous food and always interesting company.
It is now our special privilege to present Cynthia with the 2020 Distinguished Cytogeneticist Award!
Katy Phelan
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Debra Saxe - 2020 Outstanding Service Award
We are delighted to present the 2020 American Cytogenomic Conference (ACC) Outstanding Service Award to Dr. Debra Saxe. Debra has been an instrumental contributor to the ACC for more than 40 years and, along with her scientific contributions, was the primary driver to incorporate the ACC in 2005. At that time, she helped draft the bylaws of the ACC and put in place a lasting structure which assures the success of the organization. Anyone who has attended ACC meetings knows that Debra has been a presenter, active participant, past-president, organizer, board member, and tremendously valued colleague at virtually every meeting since the 1970s. She co-chaired the 39th Biannual American Cytogenetics Conference at Lake Lanier, Georgia in 2006.
Debra did her undergraduate studies at the University of Texas at Austin and then received her M.S. in Genetics from the University of Arizona, under the mentorship of Dr. Oscar Ward, a previous leader of the ACC (at the time it was called the Somatic Cell Genetics Conference). She continued at the U. of Arizona to receive her Ph.D. in Genetics, with an emphasis on hematology/oncology (mentor: Dr. Brian Durie). She did post-doctorate fellowships at the University of Pittsburgh with Drs. Dane and Sallie Boggs, and then moved to the Agouron Institute in La Jolla, CA, to work on mammalian gene mapping under the guidance of Dr. Mary Harper. Debra was Director of Cytogenetics at Molecular Medicine, Inc., in Bethesda, MD, before moving to Atlanta, where she held directorship positions of Cytogenetics and the Anatomical Pathology FISH Laboratory at the Emory Genetics Laboratory and Emory Biomarker Service Center. Dr. Saxe is currently the Medical Director of Oncology Cytogenetics, Emory Medical Laboratories and is Professor of Pathology and Laboratory Medicine and adjunct Professor of Pediatrics. When Debra joined Emory, she began a lengthy collaboration with her friend, Dr. Jean Priest, who was the 2006 recipient of the ACC Distinguished Cytogeneticist Award. Dr. Saxe has also been involved in teaching at all levels, including mentoring multiple professionals who are in turn contributing to our field today.
Dr. Saxe has focused her research work not only on hematologic aspects of genetics, but also on constitutional abnormalities and technology, bringing the many critical and valuable molecular techniques to her diagnostic laboratory. She has also been meticulous at discerning and describing G-banding and has brought much-needed consistency to the field regarding band designations. While this award recognizes Debra’s work specifically with the ACC, she has been a valued member of many other regional, national and international genetics societies. Among these, she has served on and co-chaired the College of Pathologists/American College of Medical Genetics and Genomics Cytogenetics Resource Committee, the National Capital Area Cytogenetics Association and the Cancer Genomics Consortium.
While Debra was a student at Arizona, she made genetics a “family affair”, where she met and married Dr. Charles (Karl) Saxe. They have two wonderful daughters, Tamar and Lauryn, and are now also proud grandparents. Debra has successfully managed to balance her career and personal life, and I am sure that all who know her would agree that she is a true joy to be around. I’ve known Debra since she was a graduate student in Arizona, consider her a dear friend, and I am honored to be among the first to congratulate her on achieving the ACC Outstanding Service Award for 2020.
Art Brothman