THE AMBASSADORS

MEGASTARS

Volume 1, Issues 2
September 1998

The Ambassadors' new MEGASTARS section will specialize in reporting the contribution of eminent and established specialists in a diverse range of fields from art and biomedical sciences to economics and law, and from philosophy to sports. This section will also feature the contributions of international agencies, UN organizations, research centres, universities, museums and publications. The objective of this section is to create an avenue whereby youth can acquire knowledge about those who have strived and succeeded. The Ambassadors hopes its readers can learn from the success of those whose lives have been so influential.

Dr. T.I.Farag MD, DCH, MSc, DMSc, FRCP(Edin)
Adjunct Professor, Dalhousie Univ., Halifax, Canada

 

"I was fortunate to have had an idea at the right time and at the right place!"

Dr. D.S. Borgaonkar
Preface, Chromosomal Variation in Man

 

Dr. Borgaonkar left his native home of India in 1959 a post graduate student with a suitcase full of hope and aspiration. He came to the USA in the appropriate moment, at a time when human cytogenetics was still in its infancy. Today, almost four decades later, he has created a scientific and moral legacy. His greatest contribution to modern science is resting on the bookshelf of every medical library, the eight sold-out editions of Borgaonkar's innovative catalogue of Human Chromosomes is testament to the success of a motivated immigrant.

Like many who come to America in search of opportunity, Borgaonkar arrived with a dream in mind. When asked of his success, the humble 66-year-old professor insists it was primarily his good fortune. However, he still recognizes that there is a recipe for success. In his mind it is dedication, a supportive family, a fair bit of luck and undoubtedly his Indian roots.

"Our children were raised here," says Borgaonkar, "they eat Indian food, they eat American food...they like rock music." For Borgaonkar being Indian is a way of life. A cohesive family combined with hard-work and a goal to drive for, are all native values. Like many Hindus, Parsis, Jains, Buddhists and Muslims in the U.S, he shares the characteristic qualities of persistence, inspiration and sincerity. Borgaonkar became an American citizen in 1971.

Despite the fact that his children have been brought up in the U.S., his wife and daughter can still be seen in the tradition saris (above), with dots on their foreheads. Along with his busy academic and scientific career, Borgaonker always found time to stay in touch with his motherland. He does so by playing an instrumental role in the Indo-American Association of Delaware in which he is a member of the board of directors. The association is an informal group of all religions and castes and aims to keep its members in touch with their unique culture and traditions.

During his long academic career, Dr. Borgaonkar represented the U.S. at lectures, conferences and symposia in Czechoslovakia, Yugoslavia, Poland, Germany, China, the Soviet Union and his native country.

 

 

Borgaonkar's Catalog & Legacy

 

Before 1956, the number of chromosomes in human cells was not known. There was uncertainty as to whether the total number of chromosomes was 47 or 48 in somatic cells!! Thanks to the Japanese scientists Tjio and Levan who improved the cytogenetic technique, we now know that the normal number of chromosomes in somatic cells is 46 and 23 chromosomes in sex cells. In 1959, the French scientist Prof. Lejeune observed and reported the first chromosomal abnormality in man, in a Down Syndrome patient with 47 chromosomes (trisomy-21). This data was published in the same month that the British scientist, Prof. Ford, and his colleagues described the first patient with both Down & Klinefelter syndromes (48, XXY, +21).

In the same year, the chromosomal abnormality of Klinefelter syndrome (47, XXY) was first reported by Dr. Patricia Jacobs & Prof. Strong in Edinburgh MRC Clinical & Population Cytogenetics. Soon after, many numerical & structural chromosomal abnormalities were discovered, particularly following the innovation of various new banding techniques and molecular cytogenetics. This enabled the discovery of microdeletions.

Nowadays, it is well-known that chromosomal abnormalities maybe the cause of primary sterility in men and women, pregnancy losses, malformed babies, ambiguous external genetalia, primary amenorrhea, male gynecomastia, mental retardation, some familial malignancies, etc. To understand the huge burden caused by chromosomal abnormalities, we have to mention the figures given by Prof. Sir Peter S. Harper in his book, Practicle Genetic Counselling (1993). In it, he mentioned that approaching 1% of livebirths, 5% of stillbirths and 50% of all spontaneous abortions have recognizable chromosomal abnormalities.

The newly updated and expanded Eighth Edition of CHROMOSOMAL VARIATION IN MAN: A Catalog of Chromosomal Variants and Anomalies published by the elegant American publishers, Wiley-Liss Division of John Wiley & Sons, Inc. contains 19,341 entries (3000 more than the previous edition) with bibliographic data on both rare and common chromosome alterations and abnormalities. A database of the entire catalogue is now available on the world-wide web:

CHROMOSOMAL VARIATION IN MAN On-Line database is available at www.wiley.com/borgaonkar.

 

From Tjio & Levan to Borgaonkar

Before focusing on the journey of human cytogenetics & Borgaonkar's catalog we must review his journey from India to the USA. Dr. Borgaonkar, the son of a high court attorney in India, was interested in biomedical sciences since his early career with plant chromosomes He was born in Hyderabad, India on September 24, 1932. He graduated from Vivek Vardhini High School in 1947, attended Nizam's college and received a Bachelor of Science degree in Agriculture from Osmania University in 1953, received a Hyderabad State Scholarship to specialize in cytogenetics and obtained the post-graduate diploma (Assoc. I.A.R.I.) from the Indian Agricultural Research Institute, New Delhi in 1955. He served as a Research Assistant in the Agricultural Department at Hyderabad and Parbhani (1955-1959) and as a Lecturer at the College of Agriculture, Parbhani (1956-1957). Interestingly, after Tjio & Levan's discovery of the true number of chromosomes in humans in 1956, the Indian plant geneticist became very interested in pursuing his post-graduate studies in the filed of human cytogenetics in the USA.

Amongst the Giants
Prof. Sheldon C. Reed & Prof. Victor A. McKusick.


Dr. D.S. Brogaonkar with the Father of Medical Genetics Dr. Victor A. McKusick

His grandmothers and parents helped him financially and otherwise to come to USA for his doctoral studies. While attending the University of Minnesota's human genetics course in the spring of 1959 taught by the pioneer Dr. Sheldon C Reed, who coined the term "genetic counseling," Dr. Borgaonkar became interested in pursuing medical genetics as career. While at Minnesota, in the spring of 1959, his neighbor and professor Dr. Charles C Burnham on the St. Paul campus suggested a course for him to enroll in. "An accidental meeting on the campus of University of North Dakota during the spring break of 1964 led me to his laboratory in the Pathology Department of the Med School and peering down the microscope for a look at the human chromosomes!"

Further correspondence with the "father of medical genetics," Dr. Victor A McKusick of Johns Hopkins in 1964, gave Dr. Borgaonkar a firm stride in the field of human cytogenetics . The previous year, Dr. Borgaonkar was awarded a Ph.D. from Oklahoma State University and served as an Assistant Professor of Biology at University of North Dakota, Grand Forks for a year. He then joined the faculty at Johns Hopkins University where he held the position of Director of the Chromosome Laboratory. Dr. Borgaonkar's work at John's Hopkins University lasted for 14 fruitful and eventful years, during which he held the positions of Associate Professor of Medicine (1972-1978), a lecturer at the Department of Environmental Health (1975-1978).

Dr. Borgaonkar then made the move to North Texas State University, Denton, in 1978 where he held the positions of Professor of Biological Sciences, Research Scientist, and Director of Research in the Genetics Center for two years. In 1980 Dr. Borgaonkar became Director of the Cytogenetics Laboratory at the Medical Center of Delaware (now Christiana Care Health System), in Newark where the prominent scientist resides today. He also serves as a Research Professor of Pediatrics (Medical Genetics) at Thomas Jefferson University, Philadelphia (nearby Prof. Laird Jackson) and as an Adjunct Professor of Life and Health Sciences at the University of Delaware. In addition, during his work at Johns Hopkins University in Baltimore, he was a visiting fellow at Yale University in Conneticut during the first half of 1974. Dr. Borgaonkar, the fortunate megastar, is currently the Director of the cytogenetics lab, department of pathology & laboratory medicine, Christiana Care Health Systems, Newark, Delaware. During this period, he realized that a systematic compilation and index of abnormal chromosomes was necessary.

"During my discussions with the great scientists, doctors Bolling, Partridge, Ruddle and McKusick both at Yale and Johns Hopkins, I got the idea to computerize information on abnormal karyotypes in an organized fashion, which could then be retrieved to compile a catalog. Significant improvements and changes have been made since then partly due to the discussions I engaged in with my colleagues and their input during the period I spent in Texas (1978-80) and in Delaware (1980- )."

Borgaonkar's Catalog of Chromosomal Variation in Man

Dr. Borgaonkar mentioned, "I believe the "Atma" of the catalog is in the methodology of organization, its simplicity in use, and the ease and economy with which it can be updated" (Atma is a Sanskrit word meaning, roughly, the immoral soul or spirit of an individual person, place or thing).

Borgaonkar's Catalog would not have been meaningful prior to the significant advances made in karyotyping techniques making the study of human chromosomes useful clinical as well as investigative procedures. Thanks to Prof. Caspersson and his colleagues who discovered the chromosome banding technique in the 1970’s, and Profs. JL Hamerton, deGrouchy, Turleau, Evans, German, Alfi, Schinzel, Yunis, Baserga, Buyse, Polani, Fracarro, Jacobs, etc. who created a foundation for knowledge about the nature and extent of variations and abnormalities in chromosome segments. This knowledge includes new or expanded coverage of structural anomalies, new banding techniques, spectral karyotyping of chromosomes, FISH, UPD, and PRINS.

The first section of the catalog is concerned with structural chromosomal variations & anomalies such as deletions, inversions and translocations. The second section lists numerical anomalies including trisomies, monosomies & polyploids. The third section includes the chromosomal "breakage syndromes." The catalog also includes reported cases of XX males, XY females & hermaphroditism. The best-selling catalogue's journey from its first edition in 1975 to its 8th edition in 1997 is very interesting, due to the high rate of increase in numerical & structural chromosomal abnormalities causing different medical problems in both males and females.

Borgaonkar's Catalog of Chromosomal Variation in Man proved to be very useful;

1) in providing unparalleled means of reviewing the world literature on all common & rare chromosomal alternations and abnormalities.
2) in clinical genetics & counselling services,
3) in the collation of information will describing a new chromosomal syndrome,
4) in chromosome mapping & gene assignment,
5) in creating a better understanding for chromosomal behaviour,
6) and in other research studies, eg. looking for mutagens.

When asked of his interesting observations, Dr. Borgaonkar mentioned:

"It appears that we humans as a biological species are better able to 'tolerate' extra chromosomal material than the lack of it"

Other Publications

Dr. D.S. Borgaonkar is also the co-author of Repository of Human Chromosomal Variants and Anomalies: International Registry of Abnormal Karyotypes, 14th Listing, 1993; the co-editor of The First Conference on the Clinical Delineation of Birth Defects, Part V. Phenotypic aspects of Chromosomal Aberrations. Birth Defects: Original Article Series V (No. 5) 1969; the co-editor of Advances in Human Genetics and Their Impact on Society, Birth Defects: Original Article Series VIII (No. 4) 1972, and the co-editor of Genetic Screening and Counseling: A Multidisciplinary Perspective, 1981. Dr. Borgaonkar is the author and co-author of over 300 publications, an organizer of conferences and symposia, and has lectured in several countries in Europe, Asia and North and South America.

References:

 

Borgaonkar's Catalog in the Biomedical Press:

"...should prove invaluable to anyone working in clinical cytogenetics
whether in a research environment or busy diagnostic laboratory."
-British Medical Journal

"...an unrivaled reference source."
-Journal of Medical Genetics

"... offers researchers an extensive, rich, catalog of human chromosome variants and anomalies."
-Canadian Genetics Society Bulletin

"This tried and trusted friend remains an invaluable compilation of published work in the field of human chromosome abnormalities, providing all who work in this area an unequaled source of information."
-The Genetical Society of Great Britain

"This is the definitive and authoritative reference book of chromosome variation in man. One cannot really fault this superb collection of data....no cytogeneticist can be without a Borgaonkar."
-Genetical Research

"All who work with chromosomes will be very much in Dr. Borgaonkar's debt."
-Biology and Society

"...a most valuable source of information for human geneticists, cytogeneticists and molecular geneticists."
- Studia Biophysica

"...invaluable as a reference tool ...when evaluating a particular karyotype of an unusual nature and as an entry to the literature of this rapidly growing subject."
- Yale Journal of Biology and Medicine


EMAIL US HERE


The Ambassadors Homepage