Victor_A._McKusick

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Victor A.

McKusick
Victor Almon McKusick (October 21, 1921 – July 22,
2008) was an American internist and medical Victor Almon McKusick
geneticist, and Professor of Medicine at the Johns
Hopkins Hospital, Baltimore.[1] He was a proponent of
the mapping of the human genome due to its use for
studying congenital diseases. He is well known for his
studies of the Amish. 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). He is
widely known as the "father of medical genetics".[2]

Personal life Victor McKusick


Victor and his identical twin Vincent L. McKusick Born October 21, 1921
were born on October 21, 1921. Victor was one of five Parkman, Maine, U.S.
children. His father was a graduate of Bates College.[1] Died July 22, 2008 (aged 86)
Before deciding to work as a dairy farmer, Victor's Towson, Maryland, U.S.
father served as a high school principal in Chester,
Alma mater Tufts University
Vermont. Victor's mother had been an elementary
Johns Hopkins University
school teacher before marrying. Victor and his siblings
Known for Mendelian Inheritance in Man,
were raised on a dairy farm in Parkman, Maine.[2]
OMIM and McKusick–Kaufman
During the summer of 1937, Victor suffered a severe syndrome
microaerophilic Streptococcus infection in his axilla.[3] Awards William Allan Award (1977)
As a result, Victor spent time in two hospitals, one of Lasker Award (1997)
which was Massachusetts General Hospital. He finally Japan Prize (2008)
saw a successful diagnosis and course of treatment,
using sulfanilamide during his ten weeks at Massachusetts General.[1] Since none of his close family
were doctors, the events of 1937 represented McKusick's first substantial experience with the medical
community. He stated, "Perhaps I would have ended up a lawyer if it weren't for the microaerophilic
streptococcus."[2]
Victor married Anne Bishop McKusick in 1949. Anne served Johns Hopkins Hospital as associate
professor of medicine in the Division of Rheumatology.[1] The couple had two sons, Victor and Kenneth,
and a daughter, Carol.[4]

Medical career

Education
After high school, Victor chose to study at Tufts University, and studied there for six semesters from the
fall of 1940 to the summer of 1942.[5] Although Tufts had an associated medical school, Victor was
fascinated by Johns Hopkins and by its dedication to medical research, and chose to attend Hopkins
Medical School instead.

During World War II The Johns Hopkins University School of Medicine could not fill its classes.
Therefore, for the first time since the school's founding in 1893, the school temporarily discontinued
requiring a baccalaureate degree for admission.[1] Victor applied during his sixth semester at Tufts, and
began in the fall of 1942, as one of the first, of very few, who ever entered the school without a bachelor's
degree. Victor never earned a baccalaureate degree, although he has been awarded over 20 honorary
degrees.[6] He earned his Doctor of Medicine through an accelerated program in only three years.[5] He
was offered the prestigious William Osler Internship in Internal Medicine at Johns Hopkins Hospital, and
chose to remain at Hopkins for his residency.[1] He completed his residency training as a cardiologist,
since the department of genetics did not exist at the time. McKusick specialized in heart murmurs, and
utilized spectroscopy to analyze heart sounds.[2]

Work at Hopkins
In 1956 McKusick traveled to Copenhagen to speak about the heritable disorders of connective tissue at
the first international congress of human genetics. The meeting looms as the birthplace of the medical
genetics field.[2] In the following decades, McKusick went on to head the Chronic Disease Clinic and
created and chaired a new Division of Medical Genetics at Hopkins beginning in 1957. In 1973, he
served as Physician-in-Chief, William Osler Professor of Medicine, and Chairman of the Department of
Medicine at Johns Hopkins Hospital and School of Medicine.[7] McKusick resigned the appointments in
1985, but continued to teach, conduct research, and practice medicine in the Departments of Medicine
and Medical Genetics. He held concurrent appointments as University Professor of Medical Genetics at
the McKusick–Nathans Institute of Genetic Medicine, Professor of Medicine at the Johns Hopkins School
of Medicine, Professor of Epidemiology at the Johns Hopkins Bloomberg School of Public Health, and
Professor of Biology at Johns Hopkins University.[5] McKusick played a role in the development of the
HeLa cell line that has been instrumental in biomedical research, although he did not reveal to the Lacks
family all the details about subsequent blood draws which were for genotyping HeLa.[8][9] He held
numerous faculty appointments while remaining at Johns Hopkins until his death in 2008.[1]

Organizations
In 1960, McKusick founded and co-directed the Annual Short Course in Medical and Experimental
Mammalian Genetics at the Jackson Laboratory in Bar Harbor, Maine.[2] He published Mendelian
Inheritance in Man (MIM), which was the first published catalog of all known genes and genetic
disorders, in 1966.[7] The complete text of MIM was made available online free of charge beginning in
1987, and titled Online Mendelian Inheritance in Man (OMIM).[2] The 12th and final print edition was
published in 1998. The online database is continually updated, and linked with the National Center for
Biotechnology Information.[5] OMIM is distributed through the National Library of Medicine, and has
been a part of the Entrez database network system since 1995. At the time of McKusick's death, OMIM
contained 18,847 entries. He also led the Annual Course in Medical Genetics at the University of Bologna
Residential Center in Bertinoro di Romagna, Italy in 1987.[10] McKusick was founding president of the
Human Genome Organization in 1989.[4]

Publications and research


McKusick wrote extensively on the history of medicine, genetics, medical genetics, and about Parkman,
Maine. He co-founded Genomics in 1987 with Frank Ruddle, and served as an editor.[7] He led a
Congressionally-chartered committee examining the ethics of testing Abraham Lincoln's tissue for the
presence of Marfan syndrome genes.[11]

His well-known published articles include:

Probable Assignment of the Duffy Blood Group Locus to Chromosome 1 in Man (1968)[12]
The Anatomy of the Human Genome: a Neo-Vesalian Basis for Medicine in the 21st Century
(2001)[13]
"On lumpers and splitters, or the nosology of genetic disease."[14]
In a 2005 paper presented by M.I. Poling, McKusick said:

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.[3]

Study of genes among the Amish


McKusick's study of genetics among the Amish is perhaps his most famous research. On his first trip to
Amish homes, he was accompanied by David Krusen who had an extensive medical practice among the
Amish in Lancaster, Pennsylvania. McKusick spoke about his introduction to Krusen's work, stating, "He
[Krusen] indicated to the author of the article—in a slick-paper, pharmaceutical company 'throw-away'—
that achondroplasia is frequent among the Amish.[15] Initial study led to the identification of two
recessive conditions named Ellis–van Creveld syndrome and cartilage-hair hypoplasia (later named
metaphyseal chondrodysplasia, McKusick type).[15]
McKusick listed fifteen advantages to studying genetics among
the Amish. Today, these fifteen reasons are argued to be true as
well. McKusick's findings led many other researchers to study
hereditary related diseases in the 1960s and 1970s. Other
researchers and McKusick cite the Amish as working
cooperatively with researchers to determine the reason for
inherited diseases. McKusick published his official findings from
working with the Amish in 1978, titled Medical Genetic Studies of
the Amish.[15]
Victor McKusick taking a picture of
an Amish child's hands during his
study of the Amish.
Awards and honors
McKusick received more than 20 honorary degrees throughout and after his career.[6] He was also a
member of the United States National Academy of Sciences,[16] the American Philosophical Society,[17]
and the American Academy of Arts and Sciences.[18]

Some of the awards he won are listed below:

Gairdner International Award from The Gairdner Foundation in 1977.[19]


William Allan Award from The American Society of Human Genetics in 1977.[20]
NAS Award for Scientific Reviewing from the National Academy of Sciences in 1982.[21]
George M. Kober Medal from the Association of American Physicians in 1990.[22]
Benjamin Franklin Medal for Distinguished Achievement in the Sciences from the American
Philosophical Society in 1996.[23]
Albert Lasker Award for Special Achievement in Medical Science from The Lasker
Foundation in 1997.[24]
Japan Prize for Medical Genetics, for pioneering the field of medical genetics, in 2008 from
The Japan Prize Foundation.[25]
McKusick–Nathans Institute of Genetic Medicine at Johns Hopkins Hospital named after
McKusick and fellow distinguished geneticist Daniel Nathans.[26]

Death
McKusick died of cancer at the age of 86, on July 22, 2008.[3] He died at his home right outside of
Baltimore, in Towson, Maryland.[1] On the 21st, the day before he died, he watched a live-stream of a
course on medical genetics from Bar Harbor, Maine, which he helped found and direct in 1960.[5]

See also
McKusick–Kaufman syndrome

References
1. The Victor A. McKusick Papers: Biographical Information (https://profiles.nlm.nih.gov/ps/retri
eve/Narrative/JQ/p-nid/304). Profiles.nlm.nih.gov. Retrieved on May 9, 2016.
2. Comfort, Nathaniel. The Science of Human Perfection: How Genes Became the Heart of
American Medicine. Yale University Press.
3. Mahesh, M (December 1, 2014). "Victor A McKusick: From "musical murmurs" to "medical
genetics" " (https://web.archive.org/web/20160804161007/http://medind.nic.in/jac/t14/i3/jact1
4i3p269.pdf) (PDF). Journal, Indian Academy of Clinical Medicine. Archived from the original
(http://medind.nic.in/jac/t14/i3/jact14i3p269.pdf) (PDF) on August 4, 2016. Retrieved
April 21, 2015.
4. Altman, Lawrence K. (July 24, 2008). "Victor McKusick, 86, Dies; Medical Genetics Pioneer"
(https://www.nytimes.com/2008/07/24/health/24mckusick.html?_r=2&). The New York
Times. Retrieved April 23, 2015.
5. Weisfeldt, M. L.; Ross, R. S. (2009). "Victor A. Mc Kusick, M.D.: 1921–2008" (https://www.nc
bi.nlm.nih.gov/pmc/articles/PMC2744554). Transactions of the American Clinical and
Climatological Association. 120: civ–cviii. PMC 2744554 (https://www.ncbi.nlm.nih.gov/pmc/
articles/PMC2744554).
6. Luminaries, M – Z (http://tuftsalumni.org/who-we-are/alumni-recognition/tufts-notables/lumin
aries-2/). Tufts Alumni. Retrieved on May 9, 2016.
7. Kazazian, Haig (October 2008). "Remembering Victor McKusick" (https://doi.org/10.1016%2
Fj.ygeno.2008.08.009). Genomics. 92 (4): 185–186. doi:10.1016/j.ygeno.2008.08.009 (http
s://doi.org/10.1016%2Fj.ygeno.2008.08.009).
8. Skloot, R. (2010). The Immortal Life of Henrietta Lacks (https://books.google.com/books?id=
GFevO-QxQDgC). Crown. ISBN 978-0-307-58938-5.
9. "Use of a Woman's Cells Raises Ethical Questions" (https://www.nytimes.com/2010/02/02/h
ealth/02seco.html). The New York Times. February 1, 2010. Retrieved June 18, 2020.
10. Romeo, Giovanni (October 1, 2008). "Victor McKusick, 1921–2008: the founder of medical
genetics as we know it" (https://doi.org/10.1038%2Fejhg.2008.166). European Journal of
Human Genetics. 16 (10): 1161–1163. doi:10.1038/ejhg.2008.166 (https://doi.org/10.1038%
2Fejhg.2008.166). PMID 18818718 (https://pubmed.ncbi.nlm.nih.gov/18818718).
11. Leery, Warren L. (May 3, 1991). "Panel Backs DNA Tests on Lincoln's Tissue" (https://www.n
ytimes.com/1991/05/03/us/panel-backs-dna-tests-on-lincoln-s-tissue.html). The New York
Times. Retrieved April 23, 2015.
12. McKusick, Victor (September 5, 1988). "Probable Assignment of the Duffy Blood Group
Locus to Chromosome 1 in Man" (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC305420).
Proc. Natl. Acad. Sci. U.S.A. 61 (3): 949–55. doi:10.1073/pnas.61.3.949 (https://doi.org/10.1
073%2Fpnas.61.3.949). PMC 305420 (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3054
20). PMID 5246559 (https://pubmed.ncbi.nlm.nih.gov/5246559).
13. McKusick, Victor (November 14, 2001). "The Anatomy of the Human Genome: a Neo-
Vesalian Basis for Medicine in the 21st Century". The Journal of the American Medical
Association. 286 (18): 2289–95. doi:10.1001/jama.286.18.2289 (https://doi.org/10.1001%2Fj
ama.286.18.2289). PMID 11710895 (https://pubmed.ncbi.nlm.nih.gov/11710895).
S2CID 20460172 (https://api.semanticscholar.org/CorpusID:20460172).
14. McKusick, Victor (Winter 1969). "On lumpers and splitters, or the nosology of genetic
disease". Perspect Biol Med. 12 (2): 298–312. doi:10.1353/pbm.1969.0039 (https://doi.org/1
0.1353%2Fpbm.1969.0039). PMID 4304823 (https://pubmed.ncbi.nlm.nih.gov/4304823).
S2CID 35339751 (https://api.semanticscholar.org/CorpusID:35339751).
15. Francomano, Clair (August 15, 2003). "Medical Genetic Studies in the Amish: Historical
Perspective". American Journal of Medical Genetics. 121C (1): 1–4.
doi:10.1002/ajmg.c.20001 (https://doi.org/10.1002%2Fajmg.c.20001). PMID 12888981 (http
s://pubmed.ncbi.nlm.nih.gov/12888981). S2CID 7688595 (https://api.semanticscholar.org/C
orpusID:7688595).
16. "Victor A. McKusick" (http://www.nasonline.org/member-directory/deceased-members/5272
0.html). nasonline.org. Retrieved July 28, 2022.
17. "APS Member History" (https://search.amphilsoc.org/memhist/search?creator=Victor+A.+Mc
Kusick&title=&subject=&subdiv=&mem=&year=&year-max=&dead=&keyword=&smode=adv
anced). search.amphilsoc.org. Retrieved July 28, 2022.
18. "Victor Almon McKusick" (https://www.amacad.org/person/victor-almon-mckusick). American
Academy of Arts & Sciences. Retrieved July 28, 2022.
19. Past Recipients (http://www.gairdner.org/recipients/past). Gairdner. Retrieved on May 9,
2016.
20. "Past Recipients" (https://web.archive.org/web/20141003163707/http://www.ashg.org/page
s/awards_pastrecipients.shtml#allan). American Society of Human Genetics. Archived from
the original (http://www.ashg.org/pages/awards_pastrecipients.shtml#allan) on October 3,
2014. Retrieved February 24, 2015.
21. NAS Award for Scientific Reviewing (https://web.archive.org/web/20150319011128/http://ww
w.nasonline.org/about-nas/awards/scientific-reviewing.html). nasonline.org
22. AAP » George M. Kober Medal and Lectureship (https://aap-online.org/kober/). Aap-
online.org. Retrieved on May 9, 2016.
23. Benjamin Franklin Medal for Distinguished Achievement in the Sciences | American
Philosophical Society (http://www.amphilsoc.org/prizes/franklinscience?page=1).
Amphilsoc.org. Retrieved on May 9, 2016.
24. Albert Lasker Award for Special Achievement in Medical Science (https://web.archive.org/we
b/20160121195652/http://www.laskerfoundation.org/awards/1997special.htm).
laskerfoundation.org
25. "Laureates of the Japan Prize" (http://www.japanprize.jp/en/laureates_by_year2000.html).
japanprize.jp.
26. McKusick–Nathans Institute of Genetic Medicine (http://www.hopkinsmedicine.org/geneticm
edicine/). Hopkinsmedicine.org. Retrieved on May 9, 2016.

Further reading
"McKusick, Victor Almon in Marquis Who Was Who In America 1985–present" (http://www.cr
edoreference.com/entry/marquiswww/mckusick_victor_almon). Harvard. Retrieved
September 23, 2013.
"Victor A. McKusick." World of Genetics. 2 vols. Gale Group, 2001. Reproduced in
Biography Resource Center. Farmington Hills, Mich.: Thomson Gale. 2005.
McKusick, V. A. "Structural and Functional Studies of Genomes," (Genomics. 45: 444–449,
1997).
Crow, E. W., and J. F. Crow. "100 Years Ago: Walter Sutton and the Chromosome Theory of
Heredity," (Genetics 160:1–4, 2002).
McKusick, V. A. "Medical Genetics: A 40-Year Perspective on the Evolution of a Medical
Specialty from a Basic Science," (Journal of the American Medical Association, 270:2351–
2356, 1993).
McKusick, V. A. Medical Genetic Studies of the Amish: Selected Papers, Assembled with
Commentary, (Baltimore: Johns Hopkins University Press, 1978).
McKusick, V. A. A Synopsis of Clinical Auscultation, Being a Treatise on Cardiovascular and
Respiratory Sound, Introduced by an Historical Survey, Illustrated by Sound Spectrograms
(Spectral Phonocardiograms), and Supplemented by a Comprehensive Bibliography.
Privately printed and bound, in limited numbers, (Baltimore: January 1, 1956).
McKusick, V. A. "Biographical Memoirs: A. McGehee Harvey (30 July 1911 – 8 May 1998),"
(Proceedings of the American Philosophical Society. 144:85–94, 2000).
McKusick, V. A. "Marcella O'Grady Boveri (1865–1950) and the Chromosome Theory of
Cancer," (Journal of Medical Genetics. 22: 431–440, 1985).
McKusick, V. A. "The Anatomy of the Human Genome: a Neo-Vesalian Basis for Medicine in
the 21st Century," (Journal of the American Medical Association. 286(18):2289–2295, 2001).
McKusick, V. A. "Mapping the Human Genome: Retrospective, Perspective and
Prospective," (Proceedings of the American Philosophical Society. 141(4):417–424, 1997).
McKusick, V. A. "The Human Genome Project: Status, Prospects, and Implications for
Ethics, Society, and the Law," (Presented at: 7th International Association of Catholic
Medical Schools, Santiago, Chile. January 1994).
McKusick, Victor A. (August 1965). "The Royal Hemophilia" (https://www.scientificamerican.
com/article/the-royal-hemophilia/#). Scientific American. 213 (2): 88–95.
Bibcode:1965SciAm.213b..88M (https://ui.adsabs.harvard.edu/abs/1965SciAm.213b..88M).
doi:10.1038/scientificamerican0865-88 (https://doi.org/10.1038%2Fscientificamerican0865-8
8). PMID 14319025 (https://pubmed.ncbi.nlm.nih.gov/14319025). Retrieved August 25,
2022. (Re Haemophilia in European royalty)

External links
The Victor McKusick collection (http://medicalarchives.jhmi.edu/papers/mckusick.html)
Archived (https://web.archive.org/web/20160303211915/http://medicalarchives.jhmi.edu/pap
ers/mckusick.html) March 3, 2016, at the Wayback Machine (personal papers)
The Victor A. McKusick Papers (https://profiles.nlm.nih.gov/JQ/) – Profiles in Science,
National Library of Medicine
Online Mendelian Inheritance in Man (https://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=O
MIM) (to search OMIM)

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