Scientists are having to think again about the spread of common diseases after new genome research cast new light on previously held notions. Up to now many scientists thought that diseases such as cancer were caused by common genetic mutations, but findings from recent genome decoding have shown that the mutations are more likely to be rare and one-offs.
The fallout from the results could be huge, especially for the international human genome project, which has swallowed up billions of dollars while trying to find a shortcut to identify genetic mutations, but without complete success.
The dramatic rethink in genetic mutations has come from work by two research teams, which independently decoded the entire genomes of a number of people. In one case, a team led by David Galas of the Institute for Systems Biology in Seattle, in the United States, sequenced the genomes of a family of four in which the two children had Miller syndrome and primary ciliary dyskinesia. The other involved Richard A. Gibbs of the Baylor College of Medicine, in Houston, who sequenced the whole genome of his colleague Dr. James R Lupski, a medical geneticist who has Charcot-Marie-Tooth neuropathy, a nerve disease.
The geneticists in Houston also showed how the cost of sequencing the entire genome had been slashed thanks to modern techniques. They managed to decode the genome for $50,000 - a fraction of the $500 million that was spent on the first full genetic sequencing a decade ago.
The researchers at the Institute of Systems Biology also found that gene mutations from parent to child occurred at half the rate most widely expected. “This estimate could have implications for how we think about genetic diversity, but more importantly the approach has the potential to increase enormously the power and impact of genetic research,” says Galas.