Abstract

First, let me express the honor I feel at being chosen this year’s recipient of the Colonel Harlan D. Sanders Award of the March of Dimes Birth Defects Foundation. Looking at the list of past recipients, I would have to say that it has quickly become one of the most distinguished awards in the field of medical genetics, and I am delighted to be this year’s awardee. The notification of the award carried with it the statement that it was customary in the acceptance talk to make some brief reference to the accomplishments for which the recipient was being recognized. But knowing that I was to be introduced by John Opitz, I found myself in something of a quandary. John is so thorough and so encyclopedic when the history of human genetics and its players are the subject, that I feared he would not leave me a great deal of running room for my own little talk. I might say, John has just lived up to my every expectation. But you know what, I think I have outfoxed John. I’ve chosen to talk briefly about some very recent developments, some unpublished, which illustrate not only how serendipity enters into our research lives but as well the unexpected twists and turns in the pursuit of a scientific problem. Actually, although most of the developments I will discuss are quite recent, the initial step in these developments was taken in 1969. At that time, I was in my Amerindian phase, concerned with a largish multidisciplinary study on the American Indian. This involved numerous trips into the tropical rain forests of Central and northern South America, to work among some of the least acculturated of the surviving Amerindian tribes. Each of our expeditions had a slightly different agenda. For the expedition of 1969, Arthur Bloom, then the cytogeneticist of our department, agreed to do cytogenetic studies if we would collect the proper blood samples. As you all know, roughly one percent of the cultured lymphocytes of members of industrialized populations exhibit gross chromosomal damage. It was our expectation that these clean-living Amerindians, far from the pollutants that characterize our society, would be found to exhibit a much lower frequency of chromosomal damage. For the subjects of our cytogenetic study, we chose the Yanomama, then one of the more isolated and least acculturated of all the tribes of South America. But because there were already some contacts with this tribe, especially about its periphery, we chose to do our sampling in their heartland, the Parima Mountain Range, on the boundary between Venezuela and Brazil. This was possible because in one part of the range the tropical rain forest gives way to an undulating piece of savannah on which a small plane, careful to avoid the termite mounds, can land. The commitment of the very skilled pilots of the Mission Aviation Fellowship included servicing a very small Unevangelized Tribes Mission in that area, and Paul Johnson, the pilot for the Upper Orinoco region, agreed to try to put us down near a cluster of Yanomama villages. Since I’m talking to you today, he was obviously successful, and the team spent a busy 10 days on location collecting, among other activities, the blood samples for cytogenetic studies.

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