Introduction to Judith Hall Festschrift

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To Judith G Hall—Pediatric World Leader, Genetic Visionary, Mentor, and Friend:

In early February, 2005 colleagues, family, and friends joined in Carmel, California for an afternoon and evening of academic papers, interspersed with good natured roasting to honor Judy on her retirement from the University of British Columbia. This Festschrift was the combined effort of Judith Allanson, John Carey, Cyndy Curry, Gene Hoyme, Marilyn Jones, and Sylvie Langlois. As she now enthusiastically enters what she terms her “third third,” we look back on her quite remarkable career to date in pediatrics and medical genetics.

Judy was born in Boston, Massachusetts, moving frequently with her parents and three siblings as her father was a congregational minister and was always looking for more challenging positions. She allegedly struggled with dyslexia but apparently won this battle rather handily. After graduation from high school in Seattle, she attended Wellesley College in Wellesley, Massachusetts, inspired in part by family tradition, as her grandmother had been a graduate student at Wellesley in the 1880's. While in college, a fortuitous work-study job put her in charge of fruit fly media and she was inspired by the genetics professor who let her count flies! Her interest in genetics persisted and, as a freshman at the University of Washington School of Medicine, she chose an elective in genetics taught by Dr. Arno Motulsky. In addition to receiving her M.D. in 1966, she completed a Master's degree in Genetics with Dr. Motulsky at the same time! She did her Pediatric training on the renowned Harriet Lane service at Johns Hopkins Hospital, followed by fellowship in Medical Genetics with Dr. Victor McKusick and in Pediatric Endocrinology with Dr. Robert Blizzard. In 1972, she returned to Seattle, now with three young children in tow, Hilary, Sarah, and Ben, joining the Department of Pediatrics and Medicine at the University of Washington. Here, she learned the balancing (or unbalancing) of home and work and began to make the sentinel clinical observations which were to provide the foundation for her pioneering research and novel insights into mechanisms of inheritance.

It was a pair of monozygotic twins, discordant for arthrogryposis, who gave Judy the impetus to begin her life-long study of the categorization and natural history of arthrogryposis. Three summer students, 2 years, and 350 patients later the classification of congenital contractures emerged. It remains valid today. About 1/3 of the patients with arthrogryposis have amyoplasia, 1/3 have syndromic forms and 1/3 have central nervous system dysfunction. A book on her life-long experience with children and adults with arthrogryposis is definitely on Judy's To-Do list in retirement!

In 1981, she moved to the University of British Columbia as Professor of Medical Genetics, taking on the challenge and adventure of leading clinical genetics for the province of British Columbia. She trained fellows, immersed herself in clinical research, clinical care, and organization of genetic services. She and her children embraced all things Canadian.

In 1988, she received a Killam Senior Fellowship for the first of 2 sabbatical years in her career; this in Oxford, England, focused on man/mouse models and embryology. She returned energized for a final year in genetics at UBC.

She was then appointed Professor and Head of the Department of Pediatrics at the University of British Columbia and British Columbia's Children's Hospital, a role she filled superbly from 1990–2000. As Pediatrician-in-Chief, she was responsible for health care delivery to over 1 million children. She became involved in pediatric education, child advocacy issues, gender issues, and international Pediatric public health. She played a major role in establishing physician resource planning in Canada for both general Pediatricians and subspecialty Pediatricians, with a spectacular impact on recruitment to and retention by her own program. Despite this heavy administrative burden she was very active in research into primordial dwarfism, arthrogryposis, and twinning.

During 2001 and a second sabbatical, she was a Distinguished Fellow at Christ College, Cambridge, UK, where she learned more about the fetal determinants of adult diseases and contributed to a handbook on genetics, developed by local practitioners.

As Emeritus Professor of Pediatrics and Medical Genetics at the University of British Columbia in Vancouver, B.C., Canada, she is scarcely less busy than before her retirement! Already, in 2005, she has been to Central America, Australia, Sweden, Washington, Miami, and several Canadian cities, all in the name of lecturing or committee work. She has changed some habits, however, and says she now likes to have seven hours sleep most nights.

Judy has had a long-standing research interest in human congenital anomalies, particularly neural tube defects and short stature, non-traditional mechanisms of disease such as mosaicism and imprinting, the natural history of genetic disorders, the genetics of disorders such as arthrogryposis and dwarfism, and monozygotic twins. She has played an active role in developing standards for clinical genetic services and establishing and working with lay groups related to specific disorders, especially the Little People of America.

Judy has been involved in every aspect of education from the undergraduate level through continuing physician education and has been personally responsible for training at least 30 subspecialty fellows in the US, Canada, and during her sabbaticals. She has a knack for synthesizing complex genetic information and communicating it to all levels of the audience.

She has played an important advocacy role for folic acid supplementation worldwide, the development of specific disease health guidelines, and research on rare genetic disorders.

Judy is a prolific writer having published over 270 original articles, 120 chapters and sections of conference proceedings, and 5 books. The book she co-edited with Roger Stevenson on human malformations received the Association of American Publishers award for best medical book published in 1993. She has served on the editorial board of many journals, and was a founding editor of the American Journal of Medical Genetics, Pediatric and Adolescent Medicine, Journal Watch, and Growth, Genetics, and Hormones. We have seen her review 10 articles for Journal Watch and dictate her succinct reviews while sipping tea and waiting to board a ferry for her retreat on Mayne Island. Ten minutes later she is cross-stitching and watching sea gulls!

Judy has held almost every important leadership role in medical genetics and many in academic pediatrics. She was a founding Board member and Vice President of the American Board of Medical Genetics. She has been Vice President of the Society of Pediatric Research, and President of the Western Society for Pediatric Research. During her tenures as President of the American Society of Human Genetics and the American Pediatric Society, she re-shaped priorities and commitments. She has served as consultant to the United Nations Scientific Committee on Effects of Atomic Radiation as Chair of the Canadian Pediatric Society Ross Conference, and Chair of the Scientific Advisory Board of Health Canada. She has been on the Boards of the Medical Research Council of Canada and both the American and Canadian Children's Miracle Networks, and is the Vice President of Genome Canada.

Judy's principal honors and awards include the Outstanding Alumni Award from the University of Washington School of Medicine and Wellesley College; the Colonel Sanders March of Dimes Award for lifetime achievement in Clinical Genetics; the YWCA Distinguished Women Award in Science and Technology; the Science Council of British Columbia Gold Medal; the Ross Award of the Canadian Pediatric Society; the Bock Award and the Queen Jubilee Medal. She has been inducted into the Johns Hopkins Society of Scholars and into the B.C. Science World Hall of Fame. She was recognized by American Health as one of the “Best Doctors in America” in 1996 and “Best Doctors in Canada” in 2003. She holds the UBC Faculty of Medicine Golden Jubilee Award of Excellence. She was made an Officer of the Order of Canada in 1998.

Judy has been our mentor and friend for over 20 years. She is still behind the scenes of many interesting and stimulating opportunities that come to both of us in our individual careers. Judy as a mentor has been there to stimulate with ideas, provide a swift kick when needed, to share experiences, and to open a door or two that might have been hidden and to remind us “no whining.” Two anecdotes illustrate personal aspects of the woman whose astonishing accomplishments are well described above. On November 5th, to celebrate Guy Fawkes, the clinical genetics group in Vancouver planned a bonfire on the University endowment lands—an illegal event, but lots of fun. As we returned to Judy's home, close by, for a potluck supper, the electricity went out for what would be the entire party. Judy rounded up 50 or more candles to warm and illuminate her livingroom—a pleasing metaphor for her warmth and nurturing personality. It was almost disappointing when the lights finally came back on.

Judy has been an organizational leader for the David Smith Malformations and Morphogenesis workshop. Attendance at this annual premier dysmorphology meeting is keenly sought after and one's abstract must be accepted. Judy is the only person we know who would get up to present in her allotted spot, cast aside the accepted abstract, and tell us about a new concept she had just heard of, one that would revolutionize our understanding of gene function, namely imprinting. Her ability to see the importance of a concept or fact, or to think of a mechanism or association before anyone else does, coupled with her boldness/willingness to stick her neck out (perhaps with a wacky idea) defines the courageous and brilliant thinker she is. It is fitting that we celebrated her Festschrift in Carmel where at the WSPR she surely launched many of her most original “trial balloons” on her astonished listeners. As those of us with long memories can attest, almost all of those ideas have turned out to be scientifically valid, proven to her harshest critics' satisfaction, and now accepted as dogma by geneticists and scientists everywhere. Yes, we heard it here first-somatic mosaicism, imprinting, chimerism, natural history. Judy, your friends and colleagues salute you and wish you a productive, if slightly less hectic “third third” with time for grandson, Jacob, family and, of course, time for writing all those books!!

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