Someday a single glass slide containing your entire genome could tell doctors whether you are prone to develop breast cancer or if you will have heart disease in 50 years.
Researchers at Johns Hopkins? High Throughput Biology Center invented two new gene “chips” to scan for otherwise elusive disease-causing mutations in the 97 percent of the genome geneticists once described as “junk.”
“They have doubled and quadrupled the amount of genetic data you can fit on a single chip,” Hopkins spokeswoman Audrey Huang said. “That?s four times the amount of [genetic] tests for the price of one.”
Most gene chips are glass slides marked in neat grids of tiny dots that contain small sequences of known DNA, according to information provided by Johns Hopkins. Cancerous tissue can be pulped and spread on the chip, “lighting up” genes that show how the cancer works.
“With standard chips, we?re missing a big piece of the picture of mutations in humans because they look only at the meaty parts of genes, but the human genome is only 3 percent meaty parts,” said Jef Boeke, professor of molecular biology and genetics.
“The other 97 percent also can contain disease-causing mutations and is often systematically ignored,” he says.
Boeke and his team focused on segments of DNA that shift from chromosome to chromosome. These can wrongly turn on or off nearby genes, interrupt a gene by lodging in the middle of it, or cause chromosomes to break.
Transposable elements have long been suspected of playing a role vital to disease-causing mutations in people. Boeke hopes his chip eventually can be used to look for these mutations in people.
Currently, this kind of genetic testing is prohibitively expensive, with a single slide and analysis running into the “tens of thousands of dollars,” Huang said.
While their research has brought the technology closer to common use, it is yet “outside the realm of well-funded researchers.”
