A biotech firm has discovered more than 60,000 new human gene variations that cause genetic disease.
It's the largest number of variations ever identified, and it arms researchers with new information in the battle against hereditary disease. But scientists caution that cures are a long way off.
"All of the inherited causes of human disease can be attributed to changes in gene expression and function," said Dr. Richard Lifton, a medical adviser for CuraGen Corporation of New Haven, Connecticut.
Those changes are caused by alterations in DNA sequences, Lifton said. CuraGen identified a large number of common inherited variants that are not scattered randomly throughout chromosomes, but instead are in expressed genes themselves, said Lifton, who is also an investigator with the Howard Hughes Medical Institute.
The gene variations, called single nucleotide polymorphisms (SNPs), are caused by minor errors in DNA replication that accumulate in the population. They give researchers a detailed road map to pinpoint the causes of disease.
"It will be of great interest to scientists interested in the genetics of human disease to determine whether some of these variants contribute to common diseases," Lifton said.
Most genetic researchers agree.
"SNPs are the wave of the future, there's no question about that," said Irene Eckstrand, program director in genetics and developmental biology at the National Institute of General Medical Sciences.
But genetic experts stress that significant work remains to be done before the discovery has any influence in the real world.
"Humans are good at technology, but biology is a much sloppier system than technology. Humans weren’t designed by engineers, they were designed by natural selection. For many traits we don’t have simple causes and simple cures," said Kenneth Weiss, a professor in anthropology and biology at Penn State University.
"On one hand, you have a big alphabet soup that people are discovering -- that's where we come in to figure out how [gene variations] will effect people," said Muin Khoury, acting director of the Office of Genetics and Disease Prevention at the Centers for Disease Control and Prevention. "The findings could potentially lead, in the long run, to diseased genes or susceptibilities that react with other things like diet."
