Victor A. McKusick
Encyclopedia
Victor Almon McKusick internist and medical geneticist
, was University Professor
of Medical Genetics and Professor of Medicine at the Johns Hopkins Hospital
, Baltimore, MD, USA. He was the original author and, until his death, remained chief editor of Mendelian Inheritance in Man
(MIM) and its online counterpart Online Mendelian Inheritance in Man (OMIM), a database of heritable diseases and genes. He is widely regarded as the father of clinical medical genetics. McKusick also served as editor-in-chief of the journal Medicine.
, LL.B., who later became chief justice
of the Maine Supreme Court, were born on October 21, 1921, two of five children. His father was a graduate of Bates College
, a small liberal arts institution in Maine, where he was elected to Phi Beta Kappa. Before he decided to become a dairy farmer, Victor's father served as a high school principal at Chester, Vermont
, for nine years. Victor's mother had been an elementary school teacher before his parents were married. Victor and his siblings were raised on a dairy farm in Parkman, Maine
.
During the summer of 1937, Victor suffered a severe microaerophilic Streptococcus
infection in his axilla (armpit). Resulting time spent in two hospitals, in Maine (one week) and at Massachusetts General Hospital
, Boston, Massachusetts (ten weeks), finally saw a successful diagnosis and course of treatment, using sulfanilamide (which had only been introduced a year earlier). Prior to these events, McKusick had seriously planned to go into the ministry. Having no doctors in the family and only their local general practitioner
as a role model, the events of 1937 represented McKusick's first substantial experience with the medical community. From what he observed during his illness, he concluded, "I decided I liked what doctors did. I decided I wanted to join them."
After high school, in order to avoid having to compete with each other for scholarships, the McKusick twins parted. For his undergraduate work, Vincent followed the family tradition of studying at Bates. Victor enrolled at Tufts University
from the fall of 1940 to the summer of 1942, his sixth semester of undergraduate study. Although Tufts had a medical school associated with it, a secondary reason why he had chosen to study there, Victor's attention had been directed to Johns Hopkins by a 1939 Time
magazine article on the "big four" of Johns Hopkins medicine: William H. Welch
, whom the article was primarily about, William Osler
, Howard Atwood Kelly
, and William Stewart Halsted
.
The whole aura of Hopkins was very exciting to him, and with World War II going on, the Johns Hopkins University School of Medicine could not fill its classes. Hopkins, therefore, temporarily discontinued its requirement of a baccalaureate degree as a prerequisite for admission, which had been in place since the school's founding, in 1893. Victor applied and was accepted in his sixth semester at Tufts and began, in the fall of 1942, as one of the first of a very few who ever entered the Johns Hopkins University School of Medicine in this manner. Furthermore, despite numerous honorary doctorate degrees, Victor never earned a baccalaureate degree. According to McKusick, “We were churchgoing, a very religious family. My family was, of course, very intellectual, and this encouraged an intellectual approach to medicine.”
After medical school, McKusick planned to return to Maine and practice medicine as a general practitioner (GP), but he was chosen for the prestigious William Osler Internship in Internal Medicine. In the next decades, McKusick went on to head the Chronic Disease Clinic and create and chair a new Division of Medical Genetics, which represented a new branch of clinical medicine (1957-1973). He subsequently served as one of the successors of Osler as the Physician-in-Chief of the Johns Hopkins Hospital and was the William Osler Professor of Medicine and Chairman of the Department of Medicine (1973-1985).
Since 1985 until his death, McKusick taught, conducted research, and practiced medicine in the Departments of Medicine and Medical Genetics, holding nemerous faculty appointments and remaining the entire time at Johns Hopkins. He held concurrent appointments as University Professor of Medical Genetics, McKusick-Nathans Institute of Genetic Medicine, Department of Medical Genetics, Johns Hopkins Hospital; Professor of Medicine, Department of Medicine, Johns Hopkins Hospital; Professor of Epidemiology, Johns Hopkins University School of Hygiene and Public Health; and Professor of Biology, Johns Hopkins University. He edited two journals: Genomics, which he cofounded in 1987 with Dr. Frank Ruddle, and Medicine, which was founded the year he was born.
In 1966, McKusick first published his catalogue of all known genes and genetic disorders, Mendelian Inheritance in Man (MIM). The 12th and final print edition was published in 1998. MIM has also been available full-text online and free of charge since 1987 as, Online Mendelian Inheritance in Man OMIM), a continually updated database linked with National Center for Biotechnology Information
(NCBI), National Library of Medicine (NLM) for distribution and has been part of the Entrez database network system since 1995. At the time of his death on 22 July 2008, OMIM had 18,847 entries. McKusick was the founding president of the Human Genome Organization (HUGO) (1989). He founded (1960) and codirected the Annual Short Course in Medical and Experimental Mammalian Genetics, Jackson Laboratory
, Bar Harbor, Maine
, as well as the Annual Course in Medical Genetics, University of Bologna
Residential Center, Bertinoro di Romagna, Italy (1987).
McKusick wrote widely throughout his career on the history of medicine, genetics, medical genetics, and Parkman, Maine. Many of his scientific works in medical genetics, cardiology, and internal medicine, specifically, Medical Genetic Studies of the Amish, Selected Papers Assembled with Commentary (1978); Probable Assignment of the Duffy Blood Group Locus to Chromosome 1 in Man (1968); and A Synopsis of Clinical Auscultation, Being a Treatise on Cardiovascular and Respiratory Sound, Introduced by a Historical Survey, Illustrated by Sound Spectrograms (Spectral Phonocardiograms), and Supplemented by a Comprehensive Bibliography (1956), have become historical documents in themselves. He wrote most widely, however, on the history of medical genetics, including many articles, addresses, and a book chapter. He had. as well, played a leading role in investigating whether Abraham Lincoln
, 16th president of the United States, had Marfan syndrome. McKusick also was an active scholar on the life of Sir William Osler.
In a paper presented by M.I. Poling in 2005, McKusick was quoted: "I have always told my students, residents, and fellows, if you want to really get on top of some topic, you need to know how it got from where it was to how it is now. I was always strong on eponyms, too—like Marfan syndrome, Freeman-Sheldon syndrome, Down syndrome, Tay-Sachs disease, etc. On rounds, the resident or student would present a patient with some particular condition, and I would always ask, so who is so and so for whom the disease was named. This prompts thought and research into the disease or condition itself to find out who first described it and, therefore, for whom it was named."
McKusick was awarded the NAS Award for Scientific Reviewing from the National Academy of Sciences
in 1982, and the Benjamin Franklin Medal for Distinguished Achievement in the Sciences of the American Philosophical Society
in 1996. In 1997, he received the Albert Lasker Award for Achievement in Medical Science. In 2001, he received the National Medal of Science
. Two years earlier, McKusick was honored by the Johns Hopkins School of Medicine with his name upon the McKusick-Nathans Institute of Genetic Medicine, along with Dr. Daniel Nathans
.
In 1949, Victor married Anne Bishop McKusick, MD, Associate Professor of Medicine, Division of Rheumatology, Department of Medicine, Johns Hopkins Hospital (retired). The couple had two sons and a daughter. On April 23, 2008, McKusick became the sole recipient of the Japan Prize for Medical Genetics, which was awarded to him for his pioneering achievements in establishing the field of medical genetics.
On July 22, 2008, McKusick died of cancer at his home in Towson
, MD, outside Baltimore, at the age of 86.
Geneticist
A geneticist is a biologist who studies genetics, the science of genes, heredity, and variation of organisms. A geneticist can be employed as a researcher or lecturer. Some geneticists perform experiments and analyze data to interpret the inheritance of skills. A geneticist is also a Consultant or...
, was University Professor
Professor
A professor is a scholarly teacher; the precise meaning of the term varies by country. Literally, professor derives from Latin as a "person who professes" being usually an expert in arts or sciences; a teacher of high rank...
of Medical Genetics and Professor of Medicine at the Johns Hopkins Hospital
Johns Hopkins Hospital
The Johns Hopkins Hospital is the teaching hospital and biomedical research facility of Johns Hopkins University School of Medicine, located in Baltimore, Maryland . It was founded using money from a bequest by philanthropist Johns Hopkins...
, Baltimore, MD, USA. He was the original author and, until his death, remained chief editor of Mendelian Inheritance in Man
Mendelian Inheritance in Man
Online Mendelian Inheritance in Man is a database that catalogues all the known diseases with a genetic component, and—when possible—links them to the relevant genes in the human genome and provides references for further research and tools for genomic analysis of a catalogued gene. OMIM is one...
(MIM) and its online counterpart Online Mendelian Inheritance in Man (OMIM), a database of heritable diseases and genes. He is widely regarded as the father of clinical medical genetics. McKusick also served as editor-in-chief of the journal Medicine.
Biography
Victor and his identical twin Vincent L. McKusickVincent L. McKusick
Vincent Lee McKusick is an attorney and former Chief Justice of Maine. He is currently serving in the role of Of Counsel at the firm Pierce Atwood in Portland, Maine.McKusick began practicing law with Pierce Atwood in 1952...
, LL.B., who later became chief justice
Chief Justice
The Chief Justice in many countries is the name for the presiding member of a Supreme Court in Commonwealth or other countries with an Anglo-Saxon justice system based on English common law, such as the Supreme Court of Canada, the Constitutional Court of South Africa, the Court of Final Appeal of...
of the Maine Supreme Court, were born on October 21, 1921, two of five children. His father was a graduate of Bates College
Bates College
Bates College is a highly selective, private liberal arts college located in Lewiston, Maine, in the United States. and was most recently ranked 21st in the nation in the 2011 US News Best Liberal Arts Colleges rankings. The college was founded in 1855 by abolitionists...
, a small liberal arts institution in Maine, where he was elected to Phi Beta Kappa. Before he decided to become a dairy farmer, Victor's father served as a high school principal at Chester, Vermont
Chester, Vermont
Chester is a town in Windsor County, Vermont, United States. The population was 3,044 at the 2000 census. The town was originally chartered by New Hampshire Governor Benning Wentworth as Flamstead in 1754. The terms of the charter were not met and the town was re-chartered as New Flamstead in 1761...
, for nine years. Victor's mother had been an elementary school teacher before his parents were married. Victor and his siblings were raised on a dairy farm in Parkman, Maine
Parkman, Maine
Parkman is a town in Piscataquis County, Maine, United States. The town was named after Samuel Parkman, a proprietor. The population was 811 at the 2000 census.-Geography:...
.
During the summer of 1937, Victor suffered a severe microaerophilic Streptococcus
Streptococcus
Streptococcus is a genus of spherical Gram-positive bacteria belonging to the phylum Firmicutes and the lactic acid bacteria group. Cellular division occurs along a single axis in these bacteria, and thus they grow in chains or pairs, hence the name — from Greek στρεπτος streptos, meaning...
infection in his axilla (armpit). Resulting time spent in two hospitals, in Maine (one week) and at Massachusetts General Hospital
Massachusetts General Hospital
Massachusetts General Hospital is a teaching hospital and biomedical research facility in the West End neighborhood of Boston, Massachusetts...
, Boston, Massachusetts (ten weeks), finally saw a successful diagnosis and course of treatment, using sulfanilamide (which had only been introduced a year earlier). Prior to these events, McKusick had seriously planned to go into the ministry. Having no doctors in the family and only their local general practitioner
General practitioner
A general practitioner is a medical practitioner who treats acute and chronic illnesses and provides preventive care and health education for all ages and both sexes. They have particular skills in treating people with multiple health issues and comorbidities...
as a role model, the events of 1937 represented McKusick's first substantial experience with the medical community. From what he observed during his illness, he concluded, "I decided I liked what doctors did. I decided I wanted to join them."
After high school, in order to avoid having to compete with each other for scholarships, the McKusick twins parted. For his undergraduate work, Vincent followed the family tradition of studying at Bates. Victor enrolled at Tufts University
Tufts University
Tufts University is a private research university located in Medford/Somerville, near Boston, Massachusetts. It is organized into ten schools, including two undergraduate programs and eight graduate divisions, on four campuses in Massachusetts and on the eastern border of France...
from the fall of 1940 to the summer of 1942, his sixth semester of undergraduate study. Although Tufts had a medical school associated with it, a secondary reason why he had chosen to study there, Victor's attention had been directed to Johns Hopkins by a 1939 Time
Time (magazine)
Time is an American news magazine. A European edition is published from London. Time Europe covers the Middle East, Africa and, since 2003, Latin America. An Asian edition is based in Hong Kong...
magazine article on the "big four" of Johns Hopkins medicine: William H. Welch
William H. Welch
William Henry Welch, M.D. was an American physician, pathologist, and medical school administrator. He was one of the "Big Four" founding professors at Johns Hopkins Hospital. William Henry Welch, M.D. (April 8, 1850 - April 30, 1934) was an American physician, pathologist, and medical school...
, whom the article was primarily about, William Osler
William Osler
Sir William Osler, 1st Baronet was a physician. He was one of the "Big Four" founding professors at Johns Hopkins Hospital as the first Professor of Medicine and founder of the Medical Service there. Sir William Osler, 1st Baronet (July 12, 1849 – December 29, 1919) was a physician. He was...
, Howard Atwood Kelly
Howard Atwood Kelly
Howard Atwood Kelly was an American gynecologist. He was one of the "Big Four" founding professors at Johns Hopkins Hospital. Howard Atwood Kelly (February 20, 1858 – January 12, 1943) was an American gynecologist. He was one of the "Big Four" founding professors at Johns Hopkins Hospital....
, and William Stewart Halsted
William Stewart Halsted
William Stewart Halsted was an American surgeon who emphasized strict aseptic technique during surgical procedures, was an early champion of newly discovered anesthetics, and introduced several new operations, including the radical mastectomy for breast cancer...
.
The whole aura of Hopkins was very exciting to him, and with World War II going on, the Johns Hopkins University School of Medicine could not fill its classes. Hopkins, therefore, temporarily discontinued its requirement of a baccalaureate degree as a prerequisite for admission, which had been in place since the school's founding, in 1893. Victor applied and was accepted in his sixth semester at Tufts and began, in the fall of 1942, as one of the first of a very few who ever entered the Johns Hopkins University School of Medicine in this manner. Furthermore, despite numerous honorary doctorate degrees, Victor never earned a baccalaureate degree. According to McKusick, “We were churchgoing, a very religious family. My family was, of course, very intellectual, and this encouraged an intellectual approach to medicine.”
After medical school, McKusick planned to return to Maine and practice medicine as a general practitioner (GP), but he was chosen for the prestigious William Osler Internship in Internal Medicine. In the next decades, McKusick went on to head the Chronic Disease Clinic and create and chair a new Division of Medical Genetics, which represented a new branch of clinical medicine (1957-1973). He subsequently served as one of the successors of Osler as the Physician-in-Chief of the Johns Hopkins Hospital and was the William Osler Professor of Medicine and Chairman of the Department of Medicine (1973-1985).
Since 1985 until his death, McKusick taught, conducted research, and practiced medicine in the Departments of Medicine and Medical Genetics, holding nemerous faculty appointments and remaining the entire time at Johns Hopkins. He held concurrent appointments as University Professor of Medical Genetics, McKusick-Nathans Institute of Genetic Medicine, Department of Medical Genetics, Johns Hopkins Hospital; Professor of Medicine, Department of Medicine, Johns Hopkins Hospital; Professor of Epidemiology, Johns Hopkins University School of Hygiene and Public Health; and Professor of Biology, Johns Hopkins University. He edited two journals: Genomics, which he cofounded in 1987 with Dr. Frank Ruddle, and Medicine, which was founded the year he was born.
In 1966, McKusick first published his catalogue of all known genes and genetic disorders, Mendelian Inheritance in Man (MIM). The 12th and final print edition was published in 1998. MIM has also been available full-text online and free of charge since 1987 as, Online Mendelian Inheritance in Man OMIM), a continually updated database linked with National Center for Biotechnology Information
National Center for Biotechnology Information
The National Center for Biotechnology Information is part of the United States National Library of Medicine , a branch of the National Institutes of Health. The NCBI is located in Bethesda, Maryland and was founded in 1988 through legislation sponsored by Senator Claude Pepper...
(NCBI), National Library of Medicine (NLM) for distribution and has been part of the Entrez database network system since 1995. At the time of his death on 22 July 2008, OMIM had 18,847 entries. McKusick was the founding president of the Human Genome Organization (HUGO) (1989). He founded (1960) and codirected the Annual Short Course in Medical and Experimental Mammalian Genetics, Jackson Laboratory
Jackson Laboratory
The Jackson Laboratory was founded in Bar Harbor, Maine in 1929 by former University of Maine and University of Michigan president C. C. Little under the name Roscoe B...
, Bar Harbor, Maine
Bar Harbor, Maine
Bar Harbor is a town on Mount Desert Island in Hancock County, Maine, United States. As of the 2010 census, its population is 5,235. Bar Harbor is a famous summer colony in the Down East region of Maine. It is home to the College of the Atlantic, Jackson Laboratory and Mount Desert Island...
, as well as the Annual Course in Medical Genetics, University of Bologna
University of Bologna
The Alma Mater Studiorum - University of Bologna is the oldest continually operating university in the world, the word 'universitas' being first used by this institution at its foundation. The true date of its founding is uncertain, but believed by most accounts to have been 1088...
Residential Center, Bertinoro di Romagna, Italy (1987).
McKusick wrote widely throughout his career on the history of medicine, genetics, medical genetics, and Parkman, Maine. Many of his scientific works in medical genetics, cardiology, and internal medicine, specifically, Medical Genetic Studies of the Amish, Selected Papers Assembled with Commentary (1978); Probable Assignment of the Duffy Blood Group Locus to Chromosome 1 in Man (1968); and A Synopsis of Clinical Auscultation, Being a Treatise on Cardiovascular and Respiratory Sound, Introduced by a Historical Survey, Illustrated by Sound Spectrograms (Spectral Phonocardiograms), and Supplemented by a Comprehensive Bibliography (1956), have become historical documents in themselves. He wrote most widely, however, on the history of medical genetics, including many articles, addresses, and a book chapter. He had. as well, played a leading role in investigating whether Abraham Lincoln
Abraham Lincoln
Abraham Lincoln was the 16th President of the United States, serving from March 1861 until his assassination in April 1865. He successfully led his country through a great constitutional, military and moral crisis – the American Civil War – preserving the Union, while ending slavery, and...
, 16th president of the United States, had Marfan syndrome. McKusick also was an active scholar on the life of Sir William Osler.
In a paper presented by M.I. Poling in 2005, McKusick was quoted: "I have always told my students, residents, and fellows, if you want to really get on top of some topic, you need to know how it got from where it was to how it is now. I was always strong on eponyms, too—like Marfan syndrome, Freeman-Sheldon syndrome, Down syndrome, Tay-Sachs disease, etc. On rounds, the resident or student would present a patient with some particular condition, and I would always ask, so who is so and so for whom the disease was named. This prompts thought and research into the disease or condition itself to find out who first described it and, therefore, for whom it was named."
McKusick was awarded the NAS Award for Scientific Reviewing from the National Academy of Sciences
United States National Academy of Sciences
The National Academy of Sciences is a corporation in the United States whose members serve pro bono as "advisers to the nation on science, engineering, and medicine." As a national academy, new members of the organization are elected annually by current members, based on their distinguished and...
in 1982, and the Benjamin Franklin Medal for Distinguished Achievement in the Sciences of the American Philosophical Society
American Philosophical Society
The American Philosophical Society, founded in 1743, and located in Philadelphia, Pa., is an eminent scholarly organization of international reputation, that promotes useful knowledge in the sciences and humanities through excellence in scholarly research, professional meetings, publications,...
in 1996. In 1997, he received the Albert Lasker Award for Achievement in Medical Science. In 2001, he received the National Medal of Science
National Medal of Science
The National Medal of Science is an honor bestowed by the President of the United States to individuals in science and engineering who have made important contributions to the advancement of knowledge in the fields of behavioral and social sciences, biology, chemistry, engineering, mathematics and...
. Two years earlier, McKusick was honored by the Johns Hopkins School of Medicine with his name upon the McKusick-Nathans Institute of Genetic Medicine, along with Dr. Daniel Nathans
Daniel Nathans
Daniel Nathans was an American microbiologist.He was born in Wilmington, Delaware, the last of nine children born to Russian Jewish immigrant parents. During the Great Depression his father lost his small business and was unemployed for a long period of time...
.
In 1949, Victor married Anne Bishop McKusick, MD, Associate Professor of Medicine, Division of Rheumatology, Department of Medicine, Johns Hopkins Hospital (retired). The couple had two sons and a daughter. On April 23, 2008, McKusick became the sole recipient of the Japan Prize for Medical Genetics, which was awarded to him for his pioneering achievements in establishing the field of medical genetics.
On July 22, 2008, McKusick died of cancer at his home in Towson
Towson
-Places:In the United States:*Towson, Maryland, an unincorporated community in Maryland**Towson Center, an arena in Towson, Maryland**Towson Town Center, a shopping mall in Towson, Maryland*Fort Towson, Oklahoma, a community in Oklahoma...
, MD, outside Baltimore, at the age of 86.
External links
- The Victor McKusick collection (personal papers)
- The Victor A. McKusick Papers - Profiles in Science, National Library of Medicine
- Ronzano Project, The European Genetics Foundation Victor A. McKusick
- 1995 Mendel Award Winner (bio)
- 1997 Lasker Award Winner for Special Achievement in Medicine (interview, CV, complete bib., and more)
- 2002 National Medal of Science (bio and links)
- Online Mendelian Inheritance in Man (to search OMIM)