PMCCPMCCPMCC

Search tips
Search criteria 

Advanced

 
Logo of jmedgeneJournal of Medical GeneticsVisit this articleSubmit a manuscriptReceive email alertsContact usBMJ
 
J Med Genet. 2007 July; 44(7): 478–479.
PMCID: PMC2598005

Robert J Gorlin, DDS, MS (1923–2006): a geneticist for all seasons

“In human genetics, we think Bob belongs to us, but the dentists, the pathologists, the dermatologists, the oncologists, the reconstructive surgeons, and the craniofacial specialists all think he belongs to them too.” So extolled his longtime colleague and friend Judy Hall in her citation for Bob Gorlin's Award for Excellence in Human Genetics Education presented at the 2004 Annual Meeting of the American Society of Human Genetics (ASHG) in Toronto.1 It is almost impossible to describe in words Bob's tremendous influence in all aspects of medicine, and to so many people, his largesse and his unselective unconditional generosity. Yet this single citation says it all. No wonder his influence was so far‐reaching in all walks of medicine and life, and no wonder he had so many admirers the world around.

Where did it all begin? Bob had a long and involved history, self‐declared as “interesting.” He attended college at Columbia University in New York City, and worked his way through school, then served in the army during World War II, followed by dental school at Washington University in St. Louis. As Bob himself liked to recount, as he went through fellowships at NIH and Columbia and pursued a Masters degree in Iowa, it struck him that knowledge about the genetic aetiology of dental and craniofacial abnormalities was non‐existent at that time, and that this would be an interesting academic niche. After completing his formal education (I say “formal” because Bob continued educating himself his entire life) he moved to Minneapolis, where he stayed for over five decades. He was immediately appointed Associate Professor and Chairman of the Divisions of Oral Histology and Oral Pathology. In 1978, he was honoured by the privileged designation of the University of Minnesota Regents' Professor of Oral Pathology and Genetics. Bob “officially” retired in 1993, but for the rest of the world, it would appear that he actually increased all the activities that he loved best; he continued to lecture, research and write articles, edit text books and consult on the most difficult clinical cases. He was named Regents' Professor Emeritus in 2000.

It has become fashionable again to speak about the “triple threat” in medicine (clinician, scientist, educator) at a time where physician‐scientists are threatened to the point of near‐extinction, and “triple threats” are vanishingly rare, particularly in the USA. Bob, of course, was the epitome of the “triple threat”, but not in the traditional sense; when he was seeing a patient, he was also conducting his research and educating the patient, the patient's family and his trainees simultaneously. Similarly, when he was carrying out his research (as one of the earliest clinical translational scientists), he was also enhancing his patient care and educating his trainees and the rest of his peers. And like all good “triple threats”, Bob never even thought for a moment that he was a “triple threat”. It is an understatement of Bob's stature to say that he has published over 600 original peer reviewed articles, scholarly reviews, book chapters and books, delivered numerous lectures, presentations and consultations, and starred in documentaries and movies. A PubMed search using “gorlin rj” reveals 373 publications, with topics ranging from sebaceous adenomas in dogs to describing new susceptibility genes for syndromes in humans, thus reflecting Bob's universal thought and his great curiosity. The fifth edition of his astounding opus magnus, Syndromes of the head and neck, was just completed before his death.

For his tremendous contributions to science, medicine and society, Bob received numerous plaudits, among which were Senior Fellow of the Institute of Medicine of the National Academies of Science, the Premio Phoenix Anni Verdi Award of the Italian Medical Genetics Society and the Goldhaber Award from Harvard University in 1997. In 2002, he received an honorary Doctor of Science Award, the University of Minnesota's highest honour. In 2003, he was conferred the American Dental Association's Gold Medal Award for Lifetime Achievements, and in 2004, the ASHG Excellence in Education Award.

The name “Gorlin” is a household word not only in genetics but in all of medicine, from Gorlin syndrome to Gorlin sign. There are other syndromes, such as LEOPARD syndrome2 and multiple endocrine neoplasia type 2B,3 which do not bear his name, but were either first described by Bob or annotated and recognised by him as a new syndrome, because of his uncanny mind and his ability to put seemingly disparate signs and symptoms together. All in all, Bob and his colleagues studied and named 100 syndromes, and participated in isolating and characterising the susceptibility genes in perhaps half of these.

I recall quite clearly when Bob came to visit me, then in Boston, to deliver the David G. Nathan Distinguished Lecture in my seminar series. He recounted an amazing anecdote that convinced me that Cowden syndrome4 should also be named for Bob Gorlin. Predictably, his great humility and his tremendous generosity would never have let him utter this story to another soul, and I am convinced to this day that he told this story but once. The David G. Nathan Distinguished Lecture was entitled The evil eye, and the spectacular lecture that followed detailed dysmorphic syndromes and heritable conditions that had images in antiquity, in Greek mythology and in amulets belonging to a range of cultures. This was, in fact, a clinical and scientific tour de force that was also an education in anthropology and art. The lecture went over time, but all sat transfixed, and time stood still. And the dinner at Cleo's we had that evening with Marilyn, his wife and staunchest supporter, although approximately 8 years ago now, was as vivid as if it occurred last year. In fact, I liked Bob's “evil eye” talk so much that I had to see and hear it again, and wanted another audience to behold this remarkable presentation, so I invited Bob to give The evil eye after I moved to The Ohio State University. Naturally, he had already morphed his talk by then, but it was another fabulous seminar, rich with medical, scientific, archaeological and artistic lessons.

How did I first meet Bob? Our team had just discovered that germline mutations of PTEN cause Cowden syndrome.5 In pondering (which I had for some time) the various component features of Cowden syndrome and looking at various developmental disorders, I felt that the features of Bannayan–Riley–Ruvalcaba syndrome (BRRS) were reminiscent of Cowden syndrome and so PTEN must also be the latter's susceptibility gene. BRRS was not exactly common, and a quick literature search revealed that one Robert J. Gorlin might be able to help. So, without really knowing Bob, I called him up (the spunk of youth!), explained the situation to him, and he quickly realised that my hypothesis was good. Within a few short weeks, several blood samples from BRRS families arrived, and indeed, germline PTEN mutations were also found in these families.6 So begun a lifelong collaboration that turned into friendship, and I the beneficiary of his mentorship.

I recall that when I began to feel comfortable with Bob, I explained my situation as a struggling young investigator in a “rough‐and‐tumble” institution.7 He listened intently. After a short silence, he very quietly said, “Fight the bastards”. Another silence, and then in a firm voice, he came back with “And I'll help you all the way”. Over the next 10 years, he helped in all sorts of ways that a great mentor would (I daresay Bob was greatly relieved when I moved out of my “rough‐and‐tumble” institution after 3 years there; I also suspect that he was even more relieved when his son Jed moved from Boston shortly after I did). Samples kept arriving, emails dinged and the phone rang, just to “talk science” or give a word of advice or words of support. Often, we would miss each other on the telephone and the amusing voicemail message of “Hello, Swee' Pickle, this is Robert J. Got a family for you: please give a call back.” became a familiar one.

For the past 13 years, Bob was honoured by an Annual Robert J. Gorlin Dysmorphology Conference, which attracts the best scientists and clinicians from around the world to discuss their research as it affects patient care. I felt privileged and was highly flattered when Bob invited me in 2002 to speak at this conference about PTEN and developmental disorders as they relate to neoplasia. I had known he had both prostate cancer and chronic myeloid leukaemia. As a medical oncologist as well, I felt confident that both were “chronic diseases” with modern medicine able to keep them at bay. I was shocked and saddened to see Bob, normally of a thousand energies, so ill and fatigued at his conference. I have never seen him have to sit throughout on a tall stool at the podium even to moderate a session. I had thought then that I had seen him for the last time, and it was with heavy heart that I boarded the plane at Minneapolis Airport. But Bob does not give up easily, neither in his academic nor his personal life. The drug Gleevac had come in the nick of time, and he fought back and was returned to us. And it was remarkable: all his old energy returned; he launched into his usual hundred projects; and flew all over the world delivering lectures and attending conferences. Yet, I suspect he knew: he redoubled his efforts to complete the fifth edition of Syndromes of the head and neck, and he gathered one of his most precious resources – thousands of his slides – and began to duplicate them and hand them out to his deserving colleagues.

“The light has gone out, I said, and yet I was wrong. For the light that shone in this country was no ordinary light. The light that has illumined this country for these many years will illumine this country for many more years, and a thousand years later that light will still be seen in this country, and the world will see it.” This part of Jawaharlal Nehru's funeral oration for Mahatma Gandhi is particularly apt, as Bob Gorlin's tremendous lifelong scholarly and educational accomplishments, his remarkable clinical acumen, his caring mentorship of so many individuals, and his leaving many, many academic children, grandchildren and great‐grandchildren in this country and around the world promise that his legacy will live on beyond an eternity.

ACKNOWLEDGEMENTS

I am deeply grateful to Marilyn Gorlin for reviewing a near final draft of this manuscript, and thank her for her continuing friendship. Drs Frank Weber, Kristin A. Waite and Willie Reardon critically reviewed this manuscript. Charis Eng is a Doris Duke Distinguished Clinical Scientist.

Footnotes

Competing interests: None declared.

References

1. Hall J G. 2004 ASHG Award For Excellence In Human Genetics Education. Introductory speech for Robert J Gorlin. Am J Hum Genet 2005. 76215 [PubMed]
2. Gorlin R J, Anderson R C, Blaw M E. Multiple lentigines syndrome: complex comprising multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of genitalia, retardation of growth, sensorineural deafness, and autosomal dominant hereditary pattern. Am J Dis Child 1969. 117652–662.662 [PubMed]
3. Gorlin R J, Sedano H O, Vickers R A, Cervenka J. Multiple Mucosal neuromas, phaeochromocytoma and medullary carcinoma of the thyroid – a syndrome. Cancer 1968. 22293–299.299 [PubMed]
4. Lloyd K M, Denis M. Cowden's disease: a possible new symptom complex with multiple system involvement. Ann Intern Med 1963. 58136–142.142 [PubMed]
5. Liaw D, Marsh D J, Li J, Dahia P L M, Wang S I, Zheng Z, Bose S, Call K M, Tsou H C, Peacocke M, Eng C, Parsons R. Germline mutations of the Pten gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nature Genet 1997. 1664–67.67 [PubMed]
6. Marsh D J, Dahia P L M, Zheng Z, Liaw D, Parsons R, Gorlin R J, Eng C. Germline mutations in Pten are present in Bannayan‐Zonana syndrome. Nature Genet 1997. 16333–334.334 [PubMed]
7. Eng C. Profiles and legacies. Serendipity, fate, science and leadership. Cancer Biol Therapy 2005. 41422–1425.1425 [PubMed]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Group