Am J Hum Genet 31:239 - 242, 1979
THE WILLIAM ALLAN MEMORIAL AWARD Presented to Charles R. Scriver, M.D. at the annual meeting of the American Society of Human Genetics Vancouver, British Columbia October 6, 1978 Presented by BARTON CHILDS1 Samuel Johnson once said, "It is wrong to speak about a man to his face; it is always indelicate and may be offensive." No doubt one source of this indelicacy is the perfervid prose that is sometimes employed to inflate an otherwise undistinguished reputation. Obviously Dr. Scriver will be spared that embarrassment; I shall report his accomplishments without embellishment. There is a certain fitness in the presentation of the Allan Award to Charles Scriver while the Society is meeting in Canada. For one thing, it is evidence of the disproportionate contribution of Canadians to the vigor and excellence of our Society. It is also fitting at a time when a frenetic nationalism dominates world affairs, that a society devoted to the study of human variation should have bestowed 25% of these awards on geneticists coming from outside the country which embraces 90% of its members. But Scriver's career is a triumph over tribalism. He has been leading and instructing us in so many ways and for so long that national distinction has been long since dissolved in a collegial amalgam that gives him a supranational identity. Indeed, he is the Jean Monnet of Medical Genetics. He has honorific ties with the U.S., Britain, France, and the Argentine; has done committee work for WHO, NIH, and the U.S. National Research Council; and he persuaded the American Academy of Pediatrics to institute a committee on genetics, of which he is chairman. As it happens, these ties with the U.S. and Great Britain are atavistic, taking their origin in ancestors who were New Englanders and patriotic adherents to the cause of the mother country, but who, about 200 years ago, removed in haste to Canada, propelled by disputatious patriots of another cause. Both of Dr. Scriver's parents practiced medicine in Montreal; his father, internal medicine; his mother, pediatrics. Both were gold medalists at McGill; that is, they led their respective medical school classes, and Charles in his turn did so too. And an
1 Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205 © 1979 by the American Society of Human Genetics. 0002-9297/79/3103-0001$00.75
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CHILDS 240 additional genetic tinge to add to this socio-biologist's dream-come-true is the publication by his mother, Dr. Jessie Scriver, of the first Canadian case report of sickle cell anemia, showing that one could enhance the degree of sickling in vivo by the simple expedient of putting a rubber band around a finger to lower the oxygen tension. Charles Scriver received the B.A. and M.D. degrees from McGill University, both cum laude (or should it be "avec felicitations"?). This was followed by house staff experience at McGill-associated hospitals, a year of leavening at Boston Children's and two with Charles Dent at University College London, the latter an experience which oriented his mind toward transport mechanisms with special attention to amino acids. While at University College there is evidence of transport of genetic information across the membrane of Gower Street because on the second paper of his bibliography his name is associated with that of H. Harris. After a year as chief resident at Montreal Children's, Scriver joined the genetics group at McGill, then as now pervaded by the influence of Clarke Fraser, and set up a research laboratory at the Children's Hospital. His bibliography reveals his research method; it is to keep several interests alive at once with work on each proceeding unremittingly toward genetic and molecular explanations of pathological and normal processes, with incidental rewards in the way of treatments as outcomes of the elucidation of mechanisms. The results of these investigations have been reported from time to time as each phase was elucidated. For example, 9 years separated an initial, clinical report of vitamin B6 dependency and the demonstration of glutamic decarboxylase in the kidney which led to the inference that the disease is the result of a defect in the binding of vitamin B6; and 14 years elapsed between a first report suggesting an interest in hypophosphatemic rickets and the demonstration that the lesion in the X-linked variety lies in the brush border of the kidney tubule. The mechanism of renal transport of amino acids has been a long-time interest, and recessive disorders of amino acid metabolism were used to illuminate its genetic control. Study of patients with hyperprolinemia and iminoglycinuria revealed that several amino acids may share common transport pathways, but that each also has other unique, unshared mechanisms, and all of these are under the control of genes that code for the synthesis of carriers, permeases, and other proteins. These investigations were carried out in patients and in rat kidney slices and other in vitro systems; and there were even excursions into microbiology, where the ways that bacteria control the ebb and flow of amino acids were examined under experimental conditions. Along with research on these biochemical problems which continues to this day, there has been a second interest, seemingly unrelated to the laboratory work. But such a conclusion is deceptive, as we shall see. Early in the 1960s, Scriver saw the value of testing blood and urine of very large populations for accumulations of amino acids, and so shares with Guthrie the distinction of being first to screen for genetic metabolic anomalies. The inevitable discovery of patients with such conditions led to a large clinic with heavy demands on medical personnel. The solution to this critical shortage was the evolution of a unique system in which the patients are managed mainly at home and by persons without the M.D. degree, an arrangement demonstrably to the economic, social, and emotional advantage of patients and families. This was surely among the earliest experiments in
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the delegation of extensive medical responsibilities to trained nonmedical people, and in this Scriver was fortunate in finding Carol Clow, with whom he has published these experiences in a number of landmark papers. But the clinic was not enough; it was evident that the resources of government and social agencies must be mobilized if detection, prevention, and treatment of inborn errors and other anomalies were to be achieved. Suiting action to ideas-ever a characteristic Scriver trait-he, Claude Laberge, and others, organized the Quebec Network for Genetic Medicine, the Committee for Improvement of Hereditary Disease Management, and the National Food Bank, which supplies exact diets for exotic disorders. Admittedly, the presence of provincial health schemes has made political figures approachable and financial support negotiable, but it is clear that without the Scriver initiative, energy, and example, this integrated system for the solution of both medical and human problems would not have prospered. A significant service of both clinic and network is that of providing enough information about diseases and reproductive possibilities to allow for an effective collaboration in medical care between clinic and patients and to help the families to make sound reproductive decisions. It was quickly perceived that the public lacks the information to assume these responsibilities or to ensure the success of public screening. These deficits prompted Scriver and Clow to do experiments in teaching human genetics to high school students, experiments that demonstrate, among other things, how eager young people are for such knowledge. As one reads through Dr. Scriver's papers, one sees the gradual evolution of a new, more spacious, view of medicine. It suggests that because the origins of health and disease lie in unique relations between individuality and experience there is an obligation for society to assume some responsibilities for the outcomes of those encounters. Although such ideas are often casually adumbrated in prefaces to medical texts, they are altogether at variance with the prevailing typological approach to disease classification and conventional descriptions of physicians' responsibilities. Dr. Scriver's unique contribution is, first, to perceive that investigations into molecular and cellular mechanisms, clinical research, the design of new ways to improve medical services, the mobilization of public resources, and public education are links of equal quality in a chain whose strength depends upon the integrity of each of its elements-and, second, impelled by the logic of his perception, to make contributions of high quality to each. Dr. Scriver has received many other awards and distinctions, but despite an unusual degree of public approbation, he has not dwindled into stardom, but retains a characteristic devotion to responsibilities he has outlined for himself and from which the heady attractions of prominence and power cannot draw him. These accomplishments represent a remarkable achievement for a man who has many years, perhaps his best ones, ahead of him. It was said of Alexander the Great that he perceived his humanity only in the necessity to sleep. We must assume that Scriver also shares this frailty, but when does he indulge it? In addition to a formidable burden of work, he finds time to cultivate a variety of tastes; he reads widely, especially in history, and knows and appreciates art, particularly Canadian. He is active in his community and has a busy life with an attractive family. In summary, to encapsulate this career in a
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sentence, fortunately not an epitaph, Scriver is a scientist who has got right outside the context of his science to try directly what he could do to influence its social functions
and goals. This Allan Award is evidence of our Society's approbation of that concept and of his application of it.
Annual Meeting American Society of Human Genetics October 3-6, 1979 Leamington Hotel Minneapolis, Minnesota Abstracts must be received by June 8, 1979. Send abstracts to: Dr. Carl J. Witkop, Jr. Health Science Unit A 16-262 University of Minnesota Minneapolis, Minnesota 55455