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Know Who Coined the Word Genome? McKusick Recalls HUGO s Origins at HGM 2003

CANCUN, Mexico, April 29 -- It seems you can't over-celebrate the completed human genome. Following on similar events elsewhere, the International Human Genome Organisation tonight did its own rendition of the genome grand finale here with a two-hour "honorific session" featuring speeches by HUGO founder Victor McKusick and NHGRI Director Francis Collins. Cameras flashed through a capacity-seated conference hall as delegates from around the world took their chance to capture the genome celebrities on a chip.

 

In a lecture, "Contemplating the End of the Beginning," Collins gave the crowd an overview of NHGRI's new plan for genomics, showing an illustration that's been making the conference rounds of a three-floored, Frank Lloyd Wright-inspired house with levels dedicated to genomics biology, health, and society.

 

And he described the now finished genome -- "imagine you are a randomly chosen nucleotide; you would be sitting on a stretch of 27 million base pairs of continuous sequence."

 

But when Collins asked all those in the 500-member audience who had contributed to the genome sequencing project to stand and take a bow, only six did, making all the more poignant Victor McKusick's talk -- a history lesson rife with genomic trivia and nostalgia that captivated the newbies.

 

McKusick, who began his career at the Johns Hopkins University Medical School around the time the double-helix was first described, is credited with first proposing the mapping of the human genome in 1969 and with initiating the Mendelian Inheritance in Man catalogue three years before that. The genomics grandfather took the crowd on a stroll down memory lane, starting with a September 1988 group photo taken in Montreux, Switzerland, at the first official HUGO meeting. Among the 31 scientists representing 19 countries -- founding member Norton Zinder predicted that HUGO would become the UN of the human genome -- were the 15-years-younger-looking James Watson, Wally Gilbert, Lee Hood, Charles Cantor, and mouse geneticist Mary Lyon.

 

Front-and-center was McKusick himself, holding the Swiss cowbell he used to keep order at the meeting. (Its Swiss roots, McKusick explained, are why Human Genome Organisation is spelled with an 's' instead of a 'z.') McKusick shared other genome family lore, marking a time line with events such as the first World Congress of Human Genetics in Copenhagen when "the study of chromosomes took off in earnest" -- 1956; 68 genes identified on chromosome 1 -- 1968; Ed Southern makes his blot -- 1975; David Botstein and colleagues invent the term RFLP -- 1980.

 

Even five years before HUGO got its start, the March of Dimes funded the first Human Gene Mapping meeting, McKusick said, and in 1986, Duchenne muscular dystrophy became the first genetic disorder whose cause was identified by map-based positional cloning. Howard Hughes Medical Institute bankrolled HUGO in the early days when it would have been impossible to get government funding, but as gene mapping contributed to understanding more and more such disorders, congressional support for a Human Genome Project grew, he said.

 

Who first used the term "genome?" McKusick had to go to the Oxford English Dictionary for that factoid: the first recorded use of the word is from 1920. A German named Winkler used it to describe "the complete set of chromosomes and the genes they contain." If only Winkler could see it now.

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