1986: Molecular Biology of Homo Sapiens, Vol. LI
Organizer: James Watson
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
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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.
— Jan A. Witkowski |
