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An undifferentiated pediatrician

I grew up with my mother and brother in the home of my maternal grandparents in the small town of Conway, SC. The 1950s were a great time to be in high school and college; I spent many idyllic summers as a lifeguard at Myrtle Beach. Davidson College was a financial challenge for my mother and academic challenge for me. Davidson had, however, prepared me well for medical school. After my first year, I married the girl of dreams, Carolyn Turner. She taught first grade and I had odd jobs to finance my medical education. When I graduated in 1963, the draft was in place and all able-bodied physicians could either serve in the military or the National Health Service. I chose the U.S. Navy which had provided me with funds during medical school. My internship was straight medicine in Memphis, and I had visions of training later in adult cardiology. Upon completion of my internship, I went on active duty with the Navy. I was the only general duty medical officer in the Navy in South Korea, in Chinhae, a port facility and training center. A pediatric residency at the U.S. Naval Hospital in Bethesda followed. There, my mentor, Andrew Margileth, a self-trained pediatric dermatologist, advised me if I saw physical findings that I did not understand, take a picture of it. This proved quite valuable advice for later work in clinical genetics. From 1968 to 1971, I served as the Director of Pediatrics at the U.S. Naval Hospital in Naples, Italy. In 1969, my wife and I took a trip to The Hague to attend The International Birth Defects Conference. This had a major impact on my career. There, I met David Smith, and his fellow, Jon Aase. We discussed a possible fellowship beginning in 1971 in Seattle. I also had the opportunity to spend some time with Victor McKusick. It was at this conference that he proposed an international effort to map the human genome. Exchanges of letters over the next two years concluded with my decision to go to Baltimore and join McKusick’s merry group of fellows. Meetings with McKusick were brief and to the point. At my first meeting, three points were covered. First, I was ‘‘an undifferentiated pediatrician’’ and his job was to make a medical geneticist of me. Second, in order to do that, he felt that I should enroll on the Homewood Campus of Johns Hopkins University as a Ph.D. candidate. Finally, I should undertake a gene-mapping project. The defect in hexosaminidase A had recently been described as the basis for Tay-Sachs disease. Michael Kaback devised a serumscreening test for carrier detection that was offered to synagogues in the Washington-Philadelphia corridor. But Mike had left Baltimore and I inherited this job with the idea that I could use the studied population for linkage analysis. However, it was hard to find large three generation, Jewish families needed for in-phase analysis. I was informed of a non-Jewish couple in Berks County, PA who had had two children with Tay-Sachs disease. I spent many evenings in this couple’s kitchen where after Rolling Rock beer and potato salad, I drew blood samples on the expanding pedigree. Finally, we held a community-wide screening at the local fire department and many of my co-fellows spent a delightful day in Shoemakersville. In the end we had tested more than 300 members of the family, confirmed positive screening tests with leukocyte assays and submitted samples to Wilma Bias’ immuno-genetics laboratory. Gary Chase undertook the linkage analysis and obtained no positive scores. The next year, the Hex A locus was mapped to chromosome 15 and none of the markers used in our analysis were on chromosome 15. I was not particularly excited about doing further autosomal linkage analysis. However, there were several things that came of this project that helped shaped my future research. The pedigree analysis had clearly established a common founder for the carriers of Tay-Sachs disease in Berks County. He had entered the port of Philadelphia in the mid-1700s. The population frequency of carriers in Berks County was very close to that of the Askenazic Jewish population in the U.S. We used that to argue that founder effect, not a selective heterozygous advantage, accounted for the frequency of Tay-Sachs disease in Askenazic Jews [Kelly et al., 1975a]. We also identified three healthy adults who appeared to be completely deficient in Hex A [Kelly et al., 1976]. Further assays and our pedigree showed that these individuals had inherited a Tay-Sachs mutation and a second mutation. The second mutation eliminated activity against the umbelliferyl substrate but not against the natural substrate [O’Brien et al., 1977]. Finally, this project brought me in daily collaboration with Hal Taylor and George Thomas [Taylor et al. 1973]. This was the heyday of the