Cold Spring Harbor Symposia on Quantitative Biology
LI: Molecular Biology of Homo sapiens
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Drs. Paul Berg and Walter Gilbert leading the discussion session 'Sequencing of the Human Genome'







Molecular Biology of Homo sapiens

28 May - 4 June, 1986

Symposium Synopsis

Organizer: James Watson Advisors: Marcello Siniscalco, Paul Berg, Walter Bodmer, David Botstein, Michael Brown, Charles Cantor, Tom Caskey, Joseph Goldstein, Lee Hood, Tom Maniatis, Joe Sambrook and Allan Wilson. Human genetics has a long (and not altogether honorable) association with Cold Spring Harbor. Between 1907 and 1910 Charles and Gertrude Davenport carried out what must have been among the earliest family studies when they studied the inheritance of traits such as eye color, hair form and color, and skin pigment. For the next 50 years, human genetics largely meant similar family-based studies, although Garrod had shown the inheritance of a biochemical trait–alkaptonuria–in 1905, and Linus Pauling and Vernon Ingram showed that sickle cell anemia was a “molecular” disease. A major advance in clinical genetics came with the recognition that chromosomal abnormalities had profound developmental consequences. But human genetics was very poorly developed compared to its cousins–Drosophila, yeast, phage, and bacterial genetics. That all changed, when, beginning in 1976, recombinant DNA techniques were used to clone human genes and when, in 1980, molecular markers were used for linkage analysis to find genes involved in inherited disorders. The former enabled human molecular genetics while the latter transformed clinical genetics. It is extraordinary that none (almost) of the papers in this Symposium volume could have appeared before 1976. Yet again, the topic for a Symposium could hardly have been better timed. The meeting was noteworthy especially for three events. One was that the Symposium used the new Oliver and Lorraine Grace Auditorium. For the first time in many years, there was an auditorium capable of holding the Symposium audience in comfort, and with splendidly equipped projection facilities. The second was the presentation by Kary Mullis on the polymerase chain reaction (PCR). Although a paper describing PCR of the human beta-globin gene had been reported in Science in December 1985, it seems not to have had a significant impact. Now the technique was described to an audience eager to exploit every technical advance. (However, this may be in hindsight; Tom Caskey gave the summary but failed to mention PCR.) Caskey did refer to the third significant event–a discussion of sequencing the human genome chaired by Nobel laureates Paul Berg and Wally Gilbert. Jim Watson inserted the discussion into the program at the last moment, feeling that it was time that the debate was widened from the small coterie of experts so far involved. The discussion was notable for the audience’s response–shock– to Gilbert’s estimate of $3.5 billion as the cost of the project. Although not large by the standards of high-energy physicists or astronomers, it was unheard of for a biology project. There was great concern, voiced by David Botstein, that such a project would drain money from investigator-initiated research. Watson remarked in his foreword that human genetics had been the topic of only one Symposium in the first fifty years of the series, and predicted that the topic would be returned to “over and over again during the second 50 Symposium years.” He was right–although the next Symposium devoted to Homo sapiens would not be held until 2003, the annual Genome Mapping and Sequencing meeting began in 1987.

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