A new study in the American Journal of Human Genetics shows the potential genomic research has to impact lives for the better, says Forbes' Matthew Herper. Herper recounts the story of Sesha Lundell, whose son and nephews died in infancy of a rare disease that had also affected her brothers. But thanks to advances in DNA sequencing and genomic science, researchers were able to find the gene for the disease in 16 months, and this could potentially offer Lundell the opportunity to have children via in vitro fertilization, and select the embryos that don't have the gene, Herper says. New technology and less expensive DNA sequencing allowed the researchers to find the gene, including a new computer program called the Variant Annotation, Analysis and Selection Tool, or VAAST. "What is really stunning about the whole endeavor is its cost: this was a cheap undertaking by scientific standards, costing perhaps $10,000," Herper says. "That makes it comparable to older methods that would have been much less likely to find the gene." There's no telling what surprises can be found in human DNA, he adds, "but we’re approaching a day when we’re likely to find out."
Jul 06, 2011