• Genetics

Margaret W. Thompson was one of the true pioneers in the development of medical genetics as a discipline. Peggy, as she was known to all, was born on the Isle of Man in England but grew up on the Canadian prairies. With an undergraduate degree in biology from the University of Saskatchewan, Peggy completed a PhD in 1948 at the University of Toronto with Norma Ford Walker, then famous for the Walker Index using hand and fingerprint analysis as an aid to the diagnosis of Down syndrome, many years before an extra chromosome was known to be the cause.

Following multiple short teaching positions at the University of Western Ontario and the University of Alberta, Peggy began her true calling in 1956 with her appointment as Director of the Genetic Counselling Service at University Hospital Edmonton, and 3 years later as Assistant Professor of Pediatrics and Genetics at the University of Alberta.

Peggy and her husband James (Jimmy) moved to the University of Toronto in 1963, with Peggy holding appointments in zoology and paediatrics at the University and as a geneticist at the Hospital for Sick Children. Over the next 10 years, she introduced genetic analysis and genetic counselling to the Hospital and made it an integral part of paediatrics. At the same time, she and Jimmy introduced human genetics into the medical school curriculum and wrote the first textbook of human genetics specifically for medical students. Thompson and Thompson Genetics in Medicine became the standard textbook throughout North America and much of the world. In later editions, the writing was taken over by Bob Nussbaum, Rod McInnes and Hunt Willard who maintained the ‘Thompson and Thompson’ name and the tradition of excellence set by Peggy and Jim.

In the mid-1970s, Peggy joined a small group of clinical geneticists and PhD medical geneticists to create the Canadian College of Medical Geneticists (CCMG), now the professional accrediting body for the discipline in Canada. As a leading figure in determining the role of a PhD geneticist in genetic medicine, she and her colleagues brought to the CCMG a standard of excellence that quickly became the hallmark of medical genetics in Canada and throughout the world. Peggy remained a key figure in the development and stature of the CCMG for three decades and was its President in 1983–1985.

Throughout her career, Peggy published on a wide variety of genetic diseases but her main focus was muscular dystrophy, initially providing a carrier detection service based on creatine kinase activity, prior to the gene discovery. As head of the genetics programme of the muscular dystrophy clinic, Peggy kept precise records of clinical features, carrier status of mothers and a detailed family history. This proved invaluable when one of us (RW) had the good fortune to identify the gene responsible for Duchenne and Becker muscular dystrophy, and Peggy was able to instantly coordinate the effort to detect mutations in the gene, showing that large deletions within the gene were characteristic of the disease. Immediately following this discovery, Peggy orchestrated the world's first prenatal diagnosis for a family with two affected relatives who wanted to avoid the birth of a third affected boy in the family. We determined that the baby would be a boy and that he did not carry the deletion found in the two affected family members. The birth of a healthy baby boy a few months later was a high point of Peggy's career.

Within Canada, Peggy has received many honours. Both the CCMG and the Canadian Society for Molecular Biosciences have annual trainee awards named for Margaret Thompson and in 1988 she was inducted into the Order of Canada. Three years later, she received an honorary doctorate from the University of Saskatchewan. Outside of Canada, Peggy was also a well-known figure. She was a regular speaker at the annual meetings of the American Society of Human Genetics (ASHG), a board member in 1976–1978, and her role in medical genetics education was recognised by the ASHG in 1995 with the first ever Award for Excellence in Human Genetics Education. Two years later, she was awarded Honorary Fellowship in the American College of Medical Genetics.

Peggy also excelled as a mentor and role model. One of us (LS) has a daughter, Kathy, who as a premed student worked for a summer with Peggy and who wrote ‘Peggy was like a mother, friend and huge role model for me and I am pretty sure that many women (and probably men) in the world of Canadian genetics feel the same way.’ One of these women was a former graduate student, Elaine Hutton, who wrote: ‘She was always so giving of herself, never looking for praise or admiration, and never too busy to share her knowledge. She has left a legacy of inspiration for many within the realm of medical science and genetics.’

In closing, we would like to add a personal note, as each of us served as Geneticist-in-Chief at the Hospital for Sick Children, LS from 1971 to 1985 and RW from 1985 to 1996. During this 25-year period, we were fortunate to be the beneficiaries of Peggy's wisdom and experience, knowing that we could count on her for personal support, wise counsel and friendly advice delivered with grace. The Hospital for Sick Children's development as a powerhouse for care and discovery in medical genetics began with Peggy. Her legacy is secure.⇓

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