Victor McKusick and the History of Medical Genetics
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Krishna R. Dronamraju Clair A. Francomano
●
Editors
Victor McKusick
and the History
of Medical Genetics
Editors
Krishna R. Dronamraju Clair A. Francomano
Foundation for Genetic Research Greater Baltimore Medical Center
Houston, TX, USA Harvey Institute of Human Genetics
Baltimore, MD, USA
ISBN 978-1-4614-1676-0 e-ISBN 978-1-4614-1677-7 (eBook)
DOI 10.1007/978-1-4614-1677-7
Springer New York Heidelberg Dordrecht London
Library of Congress Control Number: 2012938639
© Springer Science+Business Media, LLC 2012
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Foreword
Hamilton O. Smith received an A.B. degree in mathematics at the University of
California, Berkeley in 1952 and the M.D. degree from Johns Hopkins University
in 1956. After 6 years of clinical work in medicine (1956–1962), he carried out
research on Salmonella phage P22 lysogeny at the University of Michigan, Ann
Arbor (1962–1967). In 1967, he joined the Microbiology Department at Johns
Hopkins. In 1968, he discovered the first TypeII restriction enzyme (HindII) and
determined the sequence of its cleavage site. In, 1978 he was a co-recipient (with
D. Nathans and W. Arber) of the Nobel Prize in Medicine for this discovery.
Subsequently, he studied DNA methylases and nucleases in Haemophilus influenzae
Rd and discovered this organism’s sequence-specific DNA uptake during genetic
transformation. In 1994–1995 he collaborated with J. Craig Venter at The Institute
for Genomic Research (TIGR) to sequence H. influenzae by whole genome shotgun
sequencing and assembly. In July 1998, he joined Celera Genomics Corporation
where he participated in the sequencing of the Drosophila and human genomes. In
November 2002, he left Celera to join the new Institute for Biological Energy
Alternatives formed by J. Craig Venter. In 2005, this Institute merged with TIGR to
form the J. Craig Venter Institute where he is currently leading the synthetic biology
group in an effort to make a synthetic bacterial cell.
v
vi Foreword
I first met Victor McKusick in 1954 when I was a medical student at Hopkins.
Among my many teachers, he stands out in my mind because he was young, enthu-
siastic, and high tech. I remember particularly one of his lectures in which he
described the latest diagnostic tools being developed and used in cardiology, includ-
ing if my memory serves me correctly, electro phonocardiograms. This application
of new technologies to medical diagnosis was exciting to me. It was through his
lectures that I developed a deep interest in cardiology which led to my subsequently
taking electives in EKG interpretation and a one-quarter course with Helen Taussig
on auscultation in the diagnosis of congenital and valvular heart disease.
It was not until the 1960s, when I began my research career in genetics and mole-
cular biology that I learned of Victor’s rise as an authority on human genetic dis-
eases. He had become world famous for his encyclopedic compilation of all known
human genes and genetic disorders, published as a series of volumes under the title,
Mendelian Inheritance in Man (MIM). The database was religiously kept up to date
as new diseases were discovered. When he spoke at meetings or seminars, he would
proudly show slides displaying the ever-growing number of volumes of MIM. When
the human genome project started in earnest around 1990, I recall attending a dinner
party with Victor and we began speculating about the number of human genes. We
decided to make a bet and the winner would get a free dinner. I guessed 100,000
genes, but Victor thought there would be much fewer, around 50,000. It turned out
that we were both wrong, but he was much closer. The real number was about 25,000.
Unfortunately, I never had the opportunity to pay off the bet.
It was because of Victor’s preeminence in medical genetics that our paths crossed
again when I joined with Craig Venter at Celera Genomics in 1998 to sequence the
human genome. Victor was a strong supporter of our efforts, and I saw him fre-
quently at meetings of the Celera Scientific Advisory Board, and also later as a
member of the Venter Institute Board of Trustees in Rockville, MD. Victor was a
gentle human being who lent his vast knowledge, wisdom, good judgment, and
prestige to our meetings. We were all very saddened by his passing.
Hamilton O. Smith, M.D.
Acknowledgements
I express my gratitude to Dr. Anne McKusick for her kind cooperation in putting
this book together. In addition to contributing a fine chapter, Anne generously
provided much help in obtaining additional material and photographs. I am also
grateful to Judge Vincent McKusick for his fine contribution about the McKusick
twins, as well as helping with the identification of family photographs from their
childhood. I am appreciative of the Foreword provided by Hamilton Smith, who
knew Victor well as a student and later as a colleague.
I am appreciative of all the contributors, especially Kenneth and Victor McKusick,
for kindly permitting me to reproduce their eulogies. Dr. Clair A. Francomano not
only contributed two finely written chapters and a eulogy but also provided much
assistance in preparing the book for publication. I thank Melanie Tucker at Springer
for her cooperation and assistance in publishing this book.
Houston, TX, USA Krishna R. Dronamraju
vii
Editor Biographies
Krishna R. Dronamraju is President of the Foundation for Genetic Research,
Houston, and a Visiting Professor of the University of Paris. He was a student and
close associate of J.B.S. Haldane, receiving his Ph.D. in human genetics from the
Indian Statistical Institute, and later worked with Dr. Victor McKusick at the Johns
Hopkins University School of Medicine. Dr. Dronamraju is the author of 20 books
and over 200 papers in genetics and biotechnology. He was an Advisor to President
Bill Clinton’s administration and was a member of the United States Presidential
delegation to India in 2000. He served on the Recombinant DNA Advisory
Committee of the U.S. National Institutes of Health, Washington, D.C.
ix
x Editor Biographies
Clair A. Francomano attended Yale College as an undergraduate and received her
M.D. from Johns Hopkins University School of Medicine. She worked with
Dr. McKusick as a student, doing research among the Lancaster County Amish, and
trained in Internal Medicine and Medical Genetics at Johns Hopkins from 1980 to
1984. She joined the full-time Hopkins faculty in 1984. In 1994 she became Chief
of the Medical Genetics Branch at the National Human Genome Research Institute,
National Institutes of Health, where she served as Clinical Director from 1996 to
2001. From 2001 to 2005 she was Chief of the Human Genetics and Integrative
Medicine Section in the Laboratory of Genetics, National Institute on Aging. She
joined the Greater Baltimore Medical Center faculty in 2005 as Director of Adult
Genetics at the Harvey Institute of Human Genetics. Her research interests over the
years have centered on Hereditary Disorders of Connective Tissue and Skeletal
Dysplasias, areas to which she was introduced by Victor McKusick in the early days
of her career.
Contents
1 Victor McKusick ..................................................................................... 1
Krishna R. Dronamraju
2 Family Life and Victor’s Meeting the Unexpected .............................. 15
Anne Bishop McKusick
3 The McKusick Twins: A Personal Essay ............................................... 25
Vincent L. McKusick
4 Personal Recollections of Victor ............................................................ 35
Krishna R. Dronamraju
5 Memories of Victor McKusick ............................................................... 39
Don M. Long
6 Memories of the Moore Clinic, 1960–1965 ........................................... 41
David J. Weatherall
7 Cytogenetics and Early Days at the Moore Clinic
with Victor McKusick ............................................................................. 53
Malcolm A. Ferguson-Smith
8 Travels with Victor: Marfan Syndrome and Its Cousins .................... 67
Reed E. Pyeritz
9 Homage for Victor McKusick ................................................................ 85
Nicholas Avrion Mitchison
10 How Did My Association with Victor Influence Me,
My Career, and My Family? .................................................................. 91
Digamber S. Borgaonkar
xi
xii Contents
11 The Assimilation of Classical Genetics
into Human Genetics .............................................................................. 97
Elof Axel Carlson
12 Genetic Studies in Isolated Populations: Victor McKusick’s
Contributions to Population Genetics ................................................... 107
Aravinda Chakravarti
13 Victor A. McKusick and Medical Genetics Among the Amish ........... 119
Clair A. Francomano
14 Dr. Victor A. McKusick and the Genetics of Dwarfism ....................... 131
Clair A. Francomano and David L. Rimoin
15 Clinical Genomicist in the Future of Medical Practice ....................... 137
Edison T. Liu
16 Victor McKusick and the History of Medical Genetics ....................... 145
Peter S. Harper
17 The Influence of Victor A. McKusick on the Development
of Training in Medical Genetics in Europe and in the World ............. 163
Giovanni Romeo
Appendix A: Bibliography of Victor A. McKusick ................................... 175
Appendix B: 1. Eulogy by Ken McKusick ................................................. 205
2. Eulogy by Victor McKusick.............................................. 207
3. Eulogy by Clair A. Francomano ...................................... 211
4. Eulogy by Stephen C. Achuff ........................................... 214
5. Eulogy by David L. Rimoin .............................................. 217
6. Eulogy by Richard S. Ross ............................................... 221
Appendix C: Obituary from Francis Collins and Obituary
from Aravinda Chakravarti ................................................. 223
Index ................................................................................................................. 229
Contributors
Digamber S. Borgaonkar Laboratory of Neurogenetics, National Institute of
Aging, National Institutes of Health, Bethesda, MD 20892, USA
11 Stabler Circle, Wilmington, DE 19807, USA
Elof Axel Carlson Stony Brook University, Stony Brook, NY, USA
Institute for Advanced Study, Indiana University, PO Box 8638, Bloomington,
IN 47407, USA
Aravinda Chakravarti Center for Complex Disease Genomics, McKusick-
Nathans Institute of Genetic Medicine, Johns Hopkins University School of
Medicine, 733 N. Broadway, BRB Suite 579, Baltimore, MD 21205, USA
Krishna R. Dronamraju Foundation for Genetic Research, P.O. Box 27701–0,
Houston, TX 77227, USA
Malcolm A. Ferguson-Smith Department of Veterinary Medicine, Cambridge
Resource Centre for Comparative Genomics, Cambridge University, Madingley Road,
Cambridge, CB3 0ES, UK
Clair A. Francomano Harvey Institute for Human Genetics, Greater Baltimore
Medical Center, 6701 North Charles Street, Baltimore, MD 21204, USA
Peter S. Harper Institute of Medical Genetics, Cardiff University School of
Medicine, Heath Park, Cardiff, CF14 4XN, UK
Edison T. Liu The Jackson Laboratory, Bar Harbor, ME 04609, USA
Don M. Long Department of Neurosurgery, Johns Hopkins Hospital, Baltimore,
MD 21204-3741, USA
Anne Bishop McKusick Department of Medicine, Johns Hopkins University School
of Medicine, Baltimore, MD 21205, USA
Vincent L. McKusick Pierce Atwood LLP, Merrill’s Wharf, Portland, ME
04101, USA
xiii
xiv Contributors
Nicholas Avrion Mitchison University College London, 13 Framfield Road,
London M5 1UU, UK
UCL Research Department of Immunology, Cruciform Building, 90 Gower Street,
London WC1E 6BT, UK
Reed E. Pyeritz Departments of Medicine and Genetics, Center for the Integration
of Genetic Healthcare Technologies, The Perelman School of Medicine at the
University of Pennsylvania, Philadelphia, PA 19104-4283, USA
Hospital of the University of Pennsylvania, Penn Tower 1115, 3400 Spruce St,
Philadelphia, PA 19104, USA
David L. Rimoin* Medical Genetics Institute, Cedars-Sinai Medical Center, 8700
Beverly Blvd., Los Angeles, CA 90048, USA
Giovanni Romeo University of Bologna Medical School and European Genetics
Federation, via S. Petronio Vecchio, Bologna 42–40125, Italy
Hamilton O. Smith J. Craig Venter Institute, 10355 Science Center Drive, San Diego,
CA 92121, USA
David J. Weatherall Weatherall Institute of Molecular Medicine, John Radcliffe
Hospital, University of Oxford, Headington, Oxford OX3 9DS, UK
*
Unfortunately, Dr. Rimoin passed away while the book is in press
Chapter 1
Victor McKusick
Krishna R. Dronamraju
Victor receiving the National Medal of Science, June 13, 2002
K.R. Dronamraju (*)
Foundation for Genetic Research, P.O. Box 27701-0, Houston, TX 77227, USA
e-mail:
[email protected]K.R. Dronamraju and C.A. Francomano (eds.), Victor McKusick and the History 1
of Medical Genetics, DOI 10.1007/978-1-4614-1677-7_1,
© Springer Science+Business Media, LLC 2012
