Prix du Québec

BRONWYN CHESTER | For the second year in a row, two McGill-associated scientists have won the Prix du Québec, the province's highest honour for achievement in the arts and sciences.

Dr. Clarke Fraser, Molson professor of human genetics and emeritus professor of the McGill Centre for Human Genetics, won the Prix Wilder Penfield, awarded for achievement in the biomedical sciences.

Robert Zamboni, adjunct professor of chemistry and vice-president of the department of medicinal chemistry at Merck Frosst won the newly created Prix Lionel-Boulet for his contribution to scientific research and development in the private sector.

Both men have made contributions that have had an important impact on the quality of life and care of patients.

Fraser was Canada's first medical geneticist; in 1950, he founded the first ever Canadian medical genetics department in a pediatric hospital, at the Montreal Children's.

He established the unit because he believed that the place of medical genetics was not only in universities, but also in hospitals where it would be accessible to patients.

Through his studies of a particular hereditary condition, for instance, he was able to calculate the odds of an abnormality recurring in a family already having an afflicted child, and help them decide whether or not to have more children.

In the case of Ataxia-telangiectasia disease, for example, after examining the medical literature and reviewing past and present cases of the disease at the hospital, Fraser could tell parents what the chances were -- one in four or three in four, depending on the gene being recessive or dominant -- of their next child inheriting the disease which affects balance and the immune system and eventually causes death.

At a time before molecular biology, when it was impossible to see genes, Fraser also did pure research on mice in order to understand the relationship between heredity and environment and developed "the multifactorial threshold model" of teratology (congenital defects). He showed, for instance, that mice exposed to cortisone during pregnancy would produce offspring with cleft palates.

At the same time, he demonstrated that among those not exposed, some had combinations of genes that made them resistant to the abnormality and some had genes that made them susceptible.

"From the outset, he recognized that this was an area that had an [inherited] biological basis as well as a response to toxic events during development," wrote Dr. Charles Scriver, Fraser's colleague at the Montreal Children's Hospital for more than 25 years and a fellow laureate of the Wilder Penfield prize. Scriver nominated Fraser for this year's prize.

"That pioneering work of almost 40 years ago is the ground upon which we build our current understanding of how genes, when mutant, produce their effects known as birth defects," he continued.

Where Fraser's work with patients was in the area of counselling, education and prevention, Zamboni's contribution was in the area of treatment; he played a major role in developing a new asthma drug, Singulair, the first in the past 25 years and one which will allow some of the thousands of child and adult sufferers of the respiratory ailment to reduce their use of steroid inhalers.

Furthermore, the side effect-free drug need be taken only once per day as compared to other asthma medications which involve several daily doses.

Singulair works via its leukotriene receptor antagonists, which block the action of leukotrienes, chemicals involved in the asthmatic reaction. Zamboni began his research on the culprit chemicals upon being hired in 1980 at Merck Frosst fresh from his post-doctoral studies at Yale University and the University of Pittsburgh.

It was at McGill, where he did his BSc and PhD, that Zamboni was turned on to organic chemistry, thanks to one of his undergraduate teachers, chemistry professor David Harpp.

"He's one of the reasons why I'm in this field," says Zamboni. "He made those first courses interesting enough that I would pursue it."

Zamboni says he's also grateful to his PhD supervisor, chemistry professor George Just. "He taught me synthetic organic chemistry and he taught me dedication."

Just, who has taught a graduate seminar on medical chemistry with Zamboni for the past six years, describes his former student as "a person with drive who cares about his collaborators."

Regarding having won the Prix Lionel-Boudet (named after a pioneer researcher at Hydro- Québec's Research Institute), Zamboni is grateful, but wishes it could be given to many and not just one. "This is not an individual sport by any means."

Zamboni recounts how the original research team for Singulair comprised 12 people and mushroomed to several hundred at the development stage. "Research starts as a small seed that sprouts into a large tree with many leaves," says Zamboni, who is now conducting research on a better drug for diabetes.

Fraser, for his part, was very happy to win the award and completely surprised. "I didn't think I was in that category," he said on the phone from Bear River, Nova Scotia, his home since last spring, when, at the age of 79, he retired from McGill.

Others, many others, however, would beg to differ. Scriver, McGill's Alva Professor of Human Genetics, calls Fraser "the most senior and respected human and medical geneticist in our nation."

He is an officer of the Order of Canada, winner of the Allen Award (the highest distinction given by the American Society of Human Genetics) and winner of McGill's Lifetime Achievement Award. In honour of his years of teaching, research and caring for patients, the Children's named its genetics centre after him.

It was Fraser who founded the Quebec Network of Genetic Medicine which, in Scriver's words, was for 25 years an example to the world "of how to link discovery (genetic science) with invention (application of science to the healthcare system) and the needs of individuals, families and communities."

He is credited with formulating the method and standard of genetic counselling. Asked about the ethics of deciding whether or not to allow a human being with a hereditary condition to be born, Fraser replies that "it's for them [the parents] to decide.

"I am not in favour of eugenics [the practice of selecting who shall and shall not reproduce or be born] when it means someone imposing their views on someone else."

When Fraser began in his field, there were only Mendel's laws, which allowed geneticists to calculate the probability of a hereditary trait being passed on by calculating whether the trait was recessive or dominant. He loved "the rigour of the mathematics and the beauty of the biology."

It was a love that began some 60 years ago when, during his first year of pre-medical training at Acadia University, he heard two lectures on Mendel's laws by botanist Muriel Roscoe (Mendel's experiments were done by cross-breeding various colours of peas).

"Her explanation of Mendel's laws was so elegant," recalls Fraser, who remet Roscoe at McGill, where she taught at the University and later became Dean of Women.

Soon Fraser will be teaching at his original alma mater. It wasn't his intention. In fact, he'd gone to Acadia to check out continuing education courses for himself. But when an administrator learned of his background and proposed he offer a course, Fraser felt the lure to return to teaching too powerful to resist. This spring, he'll offer "The social impact of the new genetics," a course similar to one he taught at the McGill Institute for Learning in Retirement.

Charles Scriver, a longtime fan of Fraser's teaching ability, would likely approve. Scriver remembers Fraser as "the ideal mentor," as he was for many of his colleagues and the 55 graduate students he supervised.

"I learned from him every day," says Scriver, "from some quiet but authoritative comment or advice on what to read."