Am J Hum Genet 30:101-104, 1978
THE WILLIAM ALLAN MEMORIAL AWARD Presented to Victor A. McKusick at the annual meeting of the American Society of Human Genetics San Diego, California October 21, 1977 CITATION
We honor the man who more than anyone has made clinical genetics the field it is today. Victor McKusick's name is synonymous with clinical genetics in the minds of many. Victor's work is gigantic in extent, and his influence on medical genetics has been considerable. He is one of the few generalists of the modern scholarly world. His energy is legendary, and his knowledge of medical genetics is vast. Nothing new escapes his attention to be noted in his ever present little notebook. Victor was born exactly 56 years ago today on October 21, 1921, in Parkman, Maine, as one of a pair of identical twins. A somewhat reticent New Englander, he rarely, if ever, talks about his experiences as a twin, but it is not unlikely that being a twin tilted his scholarly bent in the direction of medical genetics. Victor's twin brother, Vincent Lee McKusick, is a distinguished lawyer in Portland, Maine, who early in his career was a law clerk to Chief Judge Learned Hand and to Supreme Court Justice Felix Frankfurter. He recently was made Chief Justice of the Supreme Court in his state. Considering the fact that identical twins are usually much alike in achievement, the success of both McKusick twins is no surprise to the human geneticist. Just imagine the impact on medical genetics if Victor's twin had chosen medical genetics and two McKusicks would be working in the field! After attending Tufts College in Boston where he was first exposed to genetics, Victor went to the Johns Hopkins Medical School. He received his M.D. degree in 1946 and has remained in Baltimore ever since. His feats of clinical scholarship as the chief resident in medicine at the Johns Hopkins Hospital remain legendary even today. Victor's first genetic paper (in 1949), coauthored with Dr. Jeghers, dealt with the Peutz-Jeghers syndrome [1]. Victor then went on to become an internationally recognized expert in cardiology and made many contributions to the literature which culminated in his book on phonocardiography in 1958 [2]. During his "cardiologic period" Victor became interested in the cardiac aspects of the heritable disorders of connective tissue-a term and concept which he introduced. Being a versatile physician with genetic interests, he studied all aspects of these disorders. His book on the Heritable Disorders of Connective Tissue first appeared in 1956 and is now in its fourth edition [3]. He is now the world authority in this field. © 1978 by the American Society of Human Genetics. All rights reserved.
101
102
THE WILLIAM ALLAN MEMORIAL AWARD
While Victor excelled in the clinical nosology of these disorders, he did not limit himself to descriptive studies. Enlisting the help of basic science colleagues, biochemical defects in various types of the Ehlers-Danlos syndrome [4-6] and in osteogenesis imperfecta [7] were described with the expertise of Dr. Martin's group at the National Institutes of Health. His collaboration with Dr. Neufeld (also at NIH) was particularly successful in the identification of the various enzyme defects in the mucopolysaccharidoses [8]. In 1957, Victor was asked to take over the syphilis clinic at Johns Hopkins when the director retired. When Victor took over, he renamed the Moore Clinic for this director, who had initiated its change into a multifaceted chronic disease unit as the number of patients with syphilis declined. At the same time he founded the Division of Medical Genetics at Hopkins. He soon attracted fellows from the United States and abroad to the Moore Clinic, and with their help performed many exciting studies in clinical genetics, such as those dealing with pseudoxanthoma elasticum [9], homocystinuria [10], and familial dysautonomia [11]. Soon this unit was considered the premier place for postgraduate education in clinical genetics. More than 100 fellows trained with him, many of whom now hold important positions all over the world. A "Festschrift" by his students to commemorate the 15th birthday of the unit in 1972 was published under the title Medical Genetics Today [12]. In 1960 Victor first organized a summer course in medical genetics at the Jackson Laboratory in Bar Harbor, Maine [13]. This course was given annually for 7 years, and since 1967, has alternated with a course in experimental mammalian genetics on odd numbered years. The courses have attracted a large number of health science faculty members who want to learn more about medical genetics. This course and his widely used textbook, Human Genetics [14], have had an enormous influence in spreading the gospel of human genetics to physicians and graduate students in many different fields. Victor also was the guiding force behind a yearly meeting dealing with nosology in clinical genetics [15]. For the first 5 years (1968- 1972), these meetings were held at the Johns Hopkins Hospital and resulted in a book-shelf of "Blue Books" under the general title Clinical Delineation of Birth Defects [16]. The "Birth Defects Conferences" (supported like the Bar Harbor course by the National FoundationMarch of Dimes) are now annual gatherings of clinical geneticists and dysmorphologists in various cities of the continent. Victor became interested in gene mapping early in his "medical genetics period." The pioneering observations that G6PD and color vision are closely linked on the X chromosome and that the Duffy blood group is located on chromosome no. 1 came from his unit. It is therefore no surprise that Victor, together with Ruddle, stimulated the organization of periodic workshops directed to linkage in man. His most recent review paper in Science [17] on linkage (coauthored with Ruddle) is the most authoritative statement on the current state of gene mapping. The use of computers for linkage work was pioneered by McKusick (with Renwick), and much of the early computer work with linkage was done through Victor's initiative. A man of Victor's encyclopedic mind saw further possibilities for the computer and created a reference work indispensable to any human or medical geneticistMendelian Inheritance in Man: Catalogs ofAutosomal Dominant, Autosomal Recessive
THE WILLIAM ALLAN MEMORIAL AWARD
103
and X-Linked Phenotypes [18]. No one else had the extensive knowledge and energy that was needed to develop this book, which first appeared in 1966 and is now in its fifth edition. Apart from its academic interest for nosology, the usefulness of this information for genetic counseling alone has helped an untold number of families with genetic diseases. Victor's contribution to medical genetics did not stop here. For many years he spearheaded detailed studies on the repertory of genetic diseases in an inbred isolate-the Old Order Amish. The usefulness of inbred populations for delineating previously unrecognized recessive diseases was amply illustrated. No other population was ever as carefully surveyed by a single superb clinical observer! This body of data will serve as an admirable data base for comparison with other inbred populations. The work with the Amish contributed to one of Victor's academic hobbies-the nosology of the skeletal dysplasias- and among other accomplishments, led to the establishment of the syndrome of cartilage-hair hypoplasia. Victor McKusick has a strong historical bent. He has published several articles on various historical figures in medicine and genetics. His account of Walter Sutton, who discovered the chromosomal basis of heredity as a graduate student in genetics and became a surgeon, may be of particular interest to medical geneticists [19]. Victor provided interesting commentaries in the recent revival of selected sections of Osler's early influential textbook of medicine [20]. It was therefore no surprise that in 1973 he was appointed Chairman of the Department of Medicine at Johns Hopkins and Physician-in-Chief of the Johns Hopkins Hospital, and thus became a direct descendant of William Osler, the master clinician of Johns Hopkins at the turn of the century. Despite his many commitments, Victor remains amiable and ever helpful to all colleagues, young and old alike. He consequently has a large circle of friends all over the United States and abroad. With so many outstanding accomplishments, it is not surprising that Victor McKusick has been honored widely. For examples, in the early 1970s he was elected to the National Academy of Sciences; he was given an honorary Sc.D. degree by New York Medical College and an honorary M.D. by the University of Liverpool; he was elected president of our Society, became a fellow of the Royal College of Physicians in England, and was made corresponding member of the National Academy of Medicine in France. The American Society of Human Genetics is proud and delighted to present the Allan Award to Victor McKusick. (Arno G. Motulsky) REFERENCES 1. JEGHERS H, MCKUSICK VA, KATZ KH: Generalized intestinal polyposis and melanin spots of the oral mucosa, lips, and digits.NEnglJMed 241:993-1005, 1949 2. McKuSICK VA: Cardiovascular Sound in Health and Disease. Baltimore, Williams and Wilkins, 1958 3. McKuSICK VA: Heritable Disorders of Connective Tissue, 4th ed. St. Louis, Mo., C. V. Mosby, 1972 4. LICHTENSTEIN JR, MARTIN GR, KOHN LD, BYERS PH, McKUSICK VA: Defect in conversion to collagen in a form of Ehlers-Danlos syndrome. Science 182:289-299, 1973
104
THE WILLIAM ALLAN MEMORIAL AWARD
5. SUSSMAN M, LICHTENSTEIN JR, NIGRA TP, MARTIN GR, McKUSICK VA: Hydroxylysinedeficient skin collagen in a patient with a form of Ehlers-Danlos syndrome. J Bone Joint Surg [Br] 56A:1228- 1234, 1974 6. POPE FM, MARTIN GR, LICHTENSTEIN JR, PENTINEN R, GERSON B, ROWE DW, McKusICK VA: Patients with Ehlers-Danlos syndrome type IV lack type III collagen. Proc Natl Acad Sci USA 72:1314-1316, 1975 7. PENTINEN RP, LICHTENSTEIN JR, MARTIN GR, McKusIcK VA: Abnormal collagen metabolism in cultured cells in osteogenesis imperfecta. Proc Natl Acad Sci USA 72:586-589, 1975 8. McKusIcK VA, NEUFELD EF, KELLY TE: The mucopolysaccharide storage diseases, in The Metabolic Basis of Inherited Disease, 4th ed., edited by STANBURY JB, WYNGAARDEN JB, FREDRICKSON DS, New York, McGraw-Hill, 1978, pp 1282-1307 9. GOODMAN RM, SMITH EW, PATON D, BERGMAN RA, SIEGEL CL, OTTESEN OE, SHELLEY WM, PUSCH AL, McKusIcK VA: Pseudoxanthoma elasticum: a clinical and histopathological study. Medicine 42:297-334, 1963 10. SCHIMKE RN, McKusicK VA, HUANG T, POLLACK AD: Homocystinuria: studies of 20 families with 38 affected members. J Am Med Assoc 193:711-719, 1965 11. BRUNT PW, McKuSICK VA: Familial dysautonomia. A report of genetic and clinical studies, with a review of the literature. Medicine 49:343-374, 1970 12. BERGSMA D, RiMOIN DL, SCHIMKE RN: Medical Genetics Today. Baltimore, Johns Hopkins Univ. Press, 1974 13. McKusIcK VA: Bar Harbor course in medical genetics. Science 176:820-821, 1972 14. McKUSICK VA: Human Genetics, 2d ed. Englewood Cliffs, N.J., Prentice-Hall, 1969 (Study Guide, 1972) 15. McKusIcK VA: On lumpers and splitters, or the nosology of genetic disease. Perspect Biol Med 12:298- 312, 1969 16. BERGSMA D, McKusICK VA: Clinical Delineation of Birth Defects, vols. 1-16, Birth Defects: Orig Art Ser, vols. 5- 10. New York, National Foundation-March of Dimes, 1969- 1974 17. McKUSICK VA, RUDDLE FH: The status of the gene map of the human chromosomes. Science 196:390-405, 1977 18. McKuSICK VA: Mendelian Inheritance in Man, 5th ed. Baltimore, Johns Hopkins Univ. Press, 1978 19. McKusIcK VA: Walter S. Sutton and the physical basis of Mendelism. Bull Hist Med 34:487-497, 1960 20. HARVEY AM, McKuSIcK VA: Osler's Textbook Revisited. Reprint of Selected Sections with Commentaries. New York, Appleton-Century-Crofts, 1967
THE WILLIAM ALLAN MEMORIAL AWARD Presented to Victor A. McKusick at the annual meeting of the American Society of Human Genetics San Diego, California October 21, 1977 CITATION
We honor the man who more than anyone has made clinical genetics the field it is today. Victor McKusick's name is synonymous with clinical genetics in the minds of many. Victor's work is gigantic in extent, and his influence on medical genetics has been considerable. He is one of the few generalists of the modern scholarly world. His energy is legendary, and his knowledge of medical genetics is vast. Nothing new escapes his attention to be noted in his ever present little notebook. Victor was born exactly 56 years ago today on October 21, 1921, in Parkman, Maine, as one of a pair of identical twins. A somewhat reticent New Englander, he rarely, if ever, talks about his experiences as a twin, but it is not unlikely that being a twin tilted his scholarly bent in the direction of medical genetics. Victor's twin brother, Vincent Lee McKusick, is a distinguished lawyer in Portland, Maine, who early in his career was a law clerk to Chief Judge Learned Hand and to Supreme Court Justice Felix Frankfurter. He recently was made Chief Justice of the Supreme Court in his state. Considering the fact that identical twins are usually much alike in achievement, the success of both McKusick twins is no surprise to the human geneticist. Just imagine the impact on medical genetics if Victor's twin had chosen medical genetics and two McKusicks would be working in the field! After attending Tufts College in Boston where he was first exposed to genetics, Victor went to the Johns Hopkins Medical School. He received his M.D. degree in 1946 and has remained in Baltimore ever since. His feats of clinical scholarship as the chief resident in medicine at the Johns Hopkins Hospital remain legendary even today. Victor's first genetic paper (in 1949), coauthored with Dr. Jeghers, dealt with the Peutz-Jeghers syndrome [1]. Victor then went on to become an internationally recognized expert in cardiology and made many contributions to the literature which culminated in his book on phonocardiography in 1958 [2]. During his "cardiologic period" Victor became interested in the cardiac aspects of the heritable disorders of connective tissue-a term and concept which he introduced. Being a versatile physician with genetic interests, he studied all aspects of these disorders. His book on the Heritable Disorders of Connective Tissue first appeared in 1956 and is now in its fourth edition [3]. He is now the world authority in this field. © 1978 by the American Society of Human Genetics. All rights reserved.
101
102
THE WILLIAM ALLAN MEMORIAL AWARD
While Victor excelled in the clinical nosology of these disorders, he did not limit himself to descriptive studies. Enlisting the help of basic science colleagues, biochemical defects in various types of the Ehlers-Danlos syndrome [4-6] and in osteogenesis imperfecta [7] were described with the expertise of Dr. Martin's group at the National Institutes of Health. His collaboration with Dr. Neufeld (also at NIH) was particularly successful in the identification of the various enzyme defects in the mucopolysaccharidoses [8]. In 1957, Victor was asked to take over the syphilis clinic at Johns Hopkins when the director retired. When Victor took over, he renamed the Moore Clinic for this director, who had initiated its change into a multifaceted chronic disease unit as the number of patients with syphilis declined. At the same time he founded the Division of Medical Genetics at Hopkins. He soon attracted fellows from the United States and abroad to the Moore Clinic, and with their help performed many exciting studies in clinical genetics, such as those dealing with pseudoxanthoma elasticum [9], homocystinuria [10], and familial dysautonomia [11]. Soon this unit was considered the premier place for postgraduate education in clinical genetics. More than 100 fellows trained with him, many of whom now hold important positions all over the world. A "Festschrift" by his students to commemorate the 15th birthday of the unit in 1972 was published under the title Medical Genetics Today [12]. In 1960 Victor first organized a summer course in medical genetics at the Jackson Laboratory in Bar Harbor, Maine [13]. This course was given annually for 7 years, and since 1967, has alternated with a course in experimental mammalian genetics on odd numbered years. The courses have attracted a large number of health science faculty members who want to learn more about medical genetics. This course and his widely used textbook, Human Genetics [14], have had an enormous influence in spreading the gospel of human genetics to physicians and graduate students in many different fields. Victor also was the guiding force behind a yearly meeting dealing with nosology in clinical genetics [15]. For the first 5 years (1968- 1972), these meetings were held at the Johns Hopkins Hospital and resulted in a book-shelf of "Blue Books" under the general title Clinical Delineation of Birth Defects [16]. The "Birth Defects Conferences" (supported like the Bar Harbor course by the National FoundationMarch of Dimes) are now annual gatherings of clinical geneticists and dysmorphologists in various cities of the continent. Victor became interested in gene mapping early in his "medical genetics period." The pioneering observations that G6PD and color vision are closely linked on the X chromosome and that the Duffy blood group is located on chromosome no. 1 came from his unit. It is therefore no surprise that Victor, together with Ruddle, stimulated the organization of periodic workshops directed to linkage in man. His most recent review paper in Science [17] on linkage (coauthored with Ruddle) is the most authoritative statement on the current state of gene mapping. The use of computers for linkage work was pioneered by McKusick (with Renwick), and much of the early computer work with linkage was done through Victor's initiative. A man of Victor's encyclopedic mind saw further possibilities for the computer and created a reference work indispensable to any human or medical geneticistMendelian Inheritance in Man: Catalogs ofAutosomal Dominant, Autosomal Recessive
THE WILLIAM ALLAN MEMORIAL AWARD
103
and X-Linked Phenotypes [18]. No one else had the extensive knowledge and energy that was needed to develop this book, which first appeared in 1966 and is now in its fifth edition. Apart from its academic interest for nosology, the usefulness of this information for genetic counseling alone has helped an untold number of families with genetic diseases. Victor's contribution to medical genetics did not stop here. For many years he spearheaded detailed studies on the repertory of genetic diseases in an inbred isolate-the Old Order Amish. The usefulness of inbred populations for delineating previously unrecognized recessive diseases was amply illustrated. No other population was ever as carefully surveyed by a single superb clinical observer! This body of data will serve as an admirable data base for comparison with other inbred populations. The work with the Amish contributed to one of Victor's academic hobbies-the nosology of the skeletal dysplasias- and among other accomplishments, led to the establishment of the syndrome of cartilage-hair hypoplasia. Victor McKusick has a strong historical bent. He has published several articles on various historical figures in medicine and genetics. His account of Walter Sutton, who discovered the chromosomal basis of heredity as a graduate student in genetics and became a surgeon, may be of particular interest to medical geneticists [19]. Victor provided interesting commentaries in the recent revival of selected sections of Osler's early influential textbook of medicine [20]. It was therefore no surprise that in 1973 he was appointed Chairman of the Department of Medicine at Johns Hopkins and Physician-in-Chief of the Johns Hopkins Hospital, and thus became a direct descendant of William Osler, the master clinician of Johns Hopkins at the turn of the century. Despite his many commitments, Victor remains amiable and ever helpful to all colleagues, young and old alike. He consequently has a large circle of friends all over the United States and abroad. With so many outstanding accomplishments, it is not surprising that Victor McKusick has been honored widely. For examples, in the early 1970s he was elected to the National Academy of Sciences; he was given an honorary Sc.D. degree by New York Medical College and an honorary M.D. by the University of Liverpool; he was elected president of our Society, became a fellow of the Royal College of Physicians in England, and was made corresponding member of the National Academy of Medicine in France. The American Society of Human Genetics is proud and delighted to present the Allan Award to Victor McKusick. (Arno G. Motulsky) REFERENCES 1. JEGHERS H, MCKUSICK VA, KATZ KH: Generalized intestinal polyposis and melanin spots of the oral mucosa, lips, and digits.NEnglJMed 241:993-1005, 1949 2. McKuSICK VA: Cardiovascular Sound in Health and Disease. Baltimore, Williams and Wilkins, 1958 3. McKuSICK VA: Heritable Disorders of Connective Tissue, 4th ed. St. Louis, Mo., C. V. Mosby, 1972 4. LICHTENSTEIN JR, MARTIN GR, KOHN LD, BYERS PH, McKUSICK VA: Defect in conversion to collagen in a form of Ehlers-Danlos syndrome. Science 182:289-299, 1973
104
THE WILLIAM ALLAN MEMORIAL AWARD
5. SUSSMAN M, LICHTENSTEIN JR, NIGRA TP, MARTIN GR, McKUSICK VA: Hydroxylysinedeficient skin collagen in a patient with a form of Ehlers-Danlos syndrome. J Bone Joint Surg [Br] 56A:1228- 1234, 1974 6. POPE FM, MARTIN GR, LICHTENSTEIN JR, PENTINEN R, GERSON B, ROWE DW, McKusICK VA: Patients with Ehlers-Danlos syndrome type IV lack type III collagen. Proc Natl Acad Sci USA 72:1314-1316, 1975 7. PENTINEN RP, LICHTENSTEIN JR, MARTIN GR, McKusIcK VA: Abnormal collagen metabolism in cultured cells in osteogenesis imperfecta. Proc Natl Acad Sci USA 72:586-589, 1975 8. McKusIcK VA, NEUFELD EF, KELLY TE: The mucopolysaccharide storage diseases, in The Metabolic Basis of Inherited Disease, 4th ed., edited by STANBURY JB, WYNGAARDEN JB, FREDRICKSON DS, New York, McGraw-Hill, 1978, pp 1282-1307 9. GOODMAN RM, SMITH EW, PATON D, BERGMAN RA, SIEGEL CL, OTTESEN OE, SHELLEY WM, PUSCH AL, McKusIcK VA: Pseudoxanthoma elasticum: a clinical and histopathological study. Medicine 42:297-334, 1963 10. SCHIMKE RN, McKusicK VA, HUANG T, POLLACK AD: Homocystinuria: studies of 20 families with 38 affected members. J Am Med Assoc 193:711-719, 1965 11. BRUNT PW, McKuSICK VA: Familial dysautonomia. A report of genetic and clinical studies, with a review of the literature. Medicine 49:343-374, 1970 12. BERGSMA D, RiMOIN DL, SCHIMKE RN: Medical Genetics Today. Baltimore, Johns Hopkins Univ. Press, 1974 13. McKusIcK VA: Bar Harbor course in medical genetics. Science 176:820-821, 1972 14. McKUSICK VA: Human Genetics, 2d ed. Englewood Cliffs, N.J., Prentice-Hall, 1969 (Study Guide, 1972) 15. McKusIcK VA: On lumpers and splitters, or the nosology of genetic disease. Perspect Biol Med 12:298- 312, 1969 16. BERGSMA D, McKusICK VA: Clinical Delineation of Birth Defects, vols. 1-16, Birth Defects: Orig Art Ser, vols. 5- 10. New York, National Foundation-March of Dimes, 1969- 1974 17. McKUSICK VA, RUDDLE FH: The status of the gene map of the human chromosomes. Science 196:390-405, 1977 18. McKuSICK VA: Mendelian Inheritance in Man, 5th ed. Baltimore, Johns Hopkins Univ. Press, 1978 19. McKusIcK VA: Walter S. Sutton and the physical basis of Mendelism. Bull Hist Med 34:487-497, 1960 20. HARVEY AM, McKuSIcK VA: Osler's Textbook Revisited. Reprint of Selected Sections with Commentaries. New York, Appleton-Century-Crofts, 1967
