MIAMI BEACH, Fla., Feb. 4 - A day after celebrating his 45th birthday with a New England Patriots Super Bowl win, Eric Lander marked the first birthday of the sequenced human genome in a speech here on Monday. February 15 will be the one-year anniversary of the publication of the Human Genome Project's paper in Nature, of which Lander was a primary author.
In a sort of post-genomic progress address called "The Human Genome and Beyond," Lander reflected on the significance of the genome data and "the transformation of biology into an information-based science." He noted that the public-sector project is on track to deliver a completely "finished" sequence - "except for areas that are not susceptible to cloning" - by April 2003.
On the status of the count of genes in the human genome, Lander said that the public project is in agreement with Celera that human genes number in the low 30,000s, "notable since we don't agree on that many things," he said. Claims of more genes have not held up, he said: "There may be lots more transcripts, but not protein-coding genes." Lander placed his own gene-count bet at 32,000.
Sharing some new insights derived from the sequenced genome, Lander said that all signs indicate that humans' sense of smell has dulled in favor of sight, and that the genome is getting smaller: The rate of transposition in the human genome has plummeted over the last 30 million years, while the rate of transposition in rodents has remained steady. "This means that the human genome is actually shrinking," he said, reassuring the audience that it would be a couple of billion years before the effects showed up.
Of what the sequence has told scientists about human genetic variation, Lander said that the rate of one SNP per 1,300 bases that has been observed is far lower than what is seen among other species such as chimps and orangutans. "It implies a population of 10,000, which makes sense considering our origin in a community of 10,000 in Africa," he said. What's known now about SNPs and variation suggests a new paradigm for human genetics, Lander said, suggesting that all common variants should be enumerated and eventually correlated to diseases.
Indeed, public sector work on a haplotype map is already underway and should be done in about two years, he said. Lander said his Whitehead Institute Center for Genome Research currently processes 110,000 DNA samples and reads 65 million DNA letters on a daily basis. Worldwide, Lander estimated that between 2,000 and 3,000 nucleotides are read per second. Especially impressive considering that PhDs were once awarded for that much work, he noted.
Asked after his lecture about rumors that a successor to the Whitehead Genome Center directorship is being groomed for his departure, Lander emphatically quashed them, saying that he wouldn't consider leaving his plum post until his children are grown - another 10 years. "What better job is there?" he asked.
Lander gave the Special Achievement Award lecture at the Miami Nature Biotechnology Winter Symposium here where organizers honored him with a plaque and a 131-year-old first edition copy of Darwin's "The Descent of Man, and Selection in Relation to Sex."