Eric Lander Addresses Questions of Human Complexity at Bioinformatics Center Kickoff

RALEIGH, N.C. March 6 - "It's traditional to say it's a pleasure to be here," said Eric Lander to an audience at North Carolina State University in a lecture marking the opening of a new bioinformatics research center on Tuesday. 

Lander, however, was over 800 miles away in Boston. He spoke via satellite to the audience in Raleigh after a snowstorm prevented the director if MIT's Whitehead Institute from presenting his speech in person. 

Regardless of location, Lander used the official unveiling of the NC State Bioinformatics Research Center--part of a $300 million genomics initiative at the university--to recount the efforts of the human genome project and to highlight several findings of the project with implications for human evolution and disease. 

Calling the human genome "lumpy," Lander described how genes tend to cluster in areas of the genome with a high GC concentration, where the levels of guanine and cytosine bases outnumber those of adenine and guanine. "There is a ten-fold bias for genes to be in GC-rich areas of the genome," said Lander. 

Lander also stressed the similarities between the genomes of human and other organisms and the "surprising" scarcity of genes--only 1 to 1.5 percent of the human sequence encodes for proteins. Furthermore, 93 percent of human protein domains are also found in other organisms. 

To explain human complexity, Lander cited evidence that human genes are two to three times as likely to undergo alternative splicing as the fruitfly or the worm, and explained that humans have unique protein domain architectures that allow the development of distinctly human features. 

Lander ended his talk by saying that with almost 1.5 million SNPs discovered already, it will soon be possible to build a haplotype map of the human population and begin studies correlating genetic variation with human disease.  

He did not comment on the Whitehead Institute's plans for research in this area. 

NC State Bioinformatics Center director Bruce Weir called for a greater emphasis on statistical methods to elucidate human genomic data. 

"Bioinformatics has been computationally intensive. But now we need to interpret it," Weir said. 

The center aims to capitalize on its researchers' strength in population genetics and statistics to develop computational and statistical tools for the management and interpretation of genomic data. 

Initial industry partners for the center include PPGx and Cimarron Software.