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J Med Genet. 2007 July; 44(7): 480.
PMCID: PMC2598000

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

Many formal tributes have been made in print enumerating Bob Gorlin's major contributions to medicine and dentistry, listing his academic appointments, his many honours and his extensive list of publications. However, what cannot be enumerated are the thousands and thousands of patients' lives he benefited either in his own practice or by giving his opinion to other physicians. Also too numerous to list are the thousands of doctors whose skills have been enhanced by knowing or listening to Bob.

In this tribute, I will try to capture how Bob enriched and influenced my life and the lives of many of my colleagues in Europe. I am aware, however, that I am only taking about one of his “constituencies”, the clinical geneticists, and that he had others; dentistry, oral pathology, craniofacial development and dermatology.

The first time I became “Gorlin aware” was around 1980, when I made my first diagnosis of Gorlin's syndrome. That child was to be one of a large cohort of patients we cared for and still study in Manchester. I believe it was, in great part, the scholarly and engaging literature by Bob that captured the interest of my then fellow, Peter Farndon, who in time contributed to the international efforts to map and clone the gene. We have never called the syndrome anything else but Gorlin's syndrome in spite of Bob calling it basal cell naevus syndrome!

It was in 1984 that I met Gorlin, the man. I was the first doctor working in the UK to be “allowed” to attend the prestigious David Smith Workshops on morphogenesis and malformations. That year the meeting was in Santa Fe, New Mexico, which sounded exotic, but it was housed on a very down‐market campus. When a tall man appeared, someone said ”that's Bob Gorlin”. I watched him greet everyone and then proceed to his allotted room from whence, having inspected the cockroaches and the state of the bedding, he erupted one minute later with a roar, saying, “I'm outta here!” and off he went to check in to a nearby motel. This should have been the first lesson I learned from him! As the new girl at the meeting I gradually met some of the names of the people whose papers I'd read in the literature. Some showed a startling lack of knowledge about the UK. One, clearly thinking that the landmass of the UK was less than his sparsely populated state, asked whether was I the geneticist for the UK, and whether was I busy, seemingly unaware of our 60 million+ population! But of course it was Bob who was kind and showed genuine interest in me as a budding dysmorphologist, and displayed a great deal of knowledge about British geography and history.

By the time I went to the next Smith meeting in the comparative luxury of Vermont, I had founded what now is the Manchester Birth Defects series of conferences. I plucked up courage to ask Bob if there was any chance he might attend our second conference. I thought there might be lengthy negotiations with diaries and secretaries, but no, Bob said “Sure!” and he had given his word. 1986 was the first of many visits by Bob to Manchester and he attended every one of our conferences until 2000. How can I describe his contributions? Well, the usual things for a start – stimulating and entertaining talks, and wise and insightful comments on other papers. He also read and took extensive notes on all of the posters. But he brought a whole lot more as well because he was genuinely interested in people. I like to think we were instrumental in bringing together Bob and young clinicians and clinician scientists from Europe, North America and Australasia. Many were later invited speakers at the Gorlin Conferences, and they established fruitful collaborations, contributing to the elucidation of the molecular pathology of a whole host of conditions, several which Bob had originally delineated. But it wasn't just the “stars” Bob engaged with; he sought out anyone who looked shy or lonely to sit next to at dinner and he showed genuine interest and knowledge of their countries. He literally “made their day”, and I often wonder how many desks all over the world are proudly adorned with a photograph of Bob together with the occupant!

When Bob visited the UK, many of us took the opportunity to seek his opinion on puzzling patients. At that time, going to see the doctor was a more formal affair than it is now, and Bob's repertoire of animal noises and funny voices was a bit confusing for the parents but certainly not for the children. One patient of mine, in whom Bob made the diagnosis of Floating‐Harbor syndrome back in 1986, still asks about him 20 years later.

Bob also played a big role in the UK Gorlin syndrome support group, run then by a very inspiring and terribly disfigured Manchester patient and his wife. Bob took part in TV documentaries with them and attended meetings of their group and gave invaluable advice to many patients, but most of all gave them hope and courage to cope with their many problems.

For me personally, it was an enormous privilege to know Bob and that is true also for my family. When my children were young, Bob took their opinions (as he did all children's) seriously. My son used to write to him and treasured the typed letters Bob sent back (thanks, I guess, to Carole, his wonderful secretary). Even my neighbours knew Bob and shared the odd pint of warm beer with him. Ever time I travelled to the US they, as well as colleagues, used to say “Will you see Bob?” No surname or other qualification was needed; we all knew who we were talking about. My recent visit to speak at Bob's memorial meeting the weekend before Christmas was of course different. When I mentioned Marilyn had invited me, everyone nodded and said of course I had to go. I felt honoured and also felt that I spoke for all of us in the European genetic community in saying that we were proud and privileged to have known Bob, a giant in all ways.


Competing interests: None declared.

This piece is based on the tribute I gave at the Academic Memorial Meeting for Robert J. Gorlin held at the University of Minnesota, 16 December 2006.

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