As reported by The Hartford Courant, February 1, 2011.

UConn Researcher Part of Genome Breakthrough

Fruit Fly Genes Could Lead to Medical Discoveries

By William Weir

An expansive, three-year project has unlocked secrets of the genomes of the fruit fly and roundworm secrets that could lead to medical breakthroughs for humans.

Contributing to the project was Brenton Graveley, an associate professor of genetics and developmental biology at the University of Connecticut.

Known as modENCODE (Model Organism ENCyclopedia Of DNA Elements), the project was established in 2007 by the U.S. National Human Genome Research Institute.

The fruit fly and round worm genomes are so similar to the human genome but much easier to study they give us a better understanding of the human genomic sequence. The study led by Graveley focused on Drosophila melanogaster, better known as the fruit fly. The paper that resulted from Graveley's study was published in Nature in December. The same week, two other papers that listed Graveley as a co-author were published in Science and Genome Research.

Fueling the efforts to map the genome is partly the hope that it will lead to medical breakthroughs. The more we know about DNA sequences, the more we know about diseases knowledge that researchers believe will lead to better treatments.

"Almost everything we discover tells us how the human genome works," Graveley says. "It gives us a way of understanding how genomes work in all organisms."

Among the findings from the research was the discovery of 2,000 previously unidentified genes in the fruit fly. (About 14,000 had been identified.) Researchers also found 112,000 previously unidentified elements in the gene code.

Many of the genes that had gone overlooked in the past was partly because researchers tended to use female fruit flies. The genes in ovaries are easier to study than those in the testes, but it also turns out that many of the genes that they hadn't seen before don't express themselves in the female.

One reason Graveley and the other researchers were able to zero in so closely on the genes is the sophisticated technology he operates at the UConn Health Center in Farmington, where he does most of his work. Graveley notes that the DNA sequencers they have now provide much higher resolutions, allowing for a much clearer picture of the genomic sequence. With the new technology, he says, it's as if you can read specific letters while the old technology only allowed you to see paragraphs.

With the earlier technology, researchers had to know what they were looking for in order to find it within the gene code. It's as if you went to the store looking for fruit, but the only fruit you knew of were bananas. You'd pass over the apples and oranges. But with the high resolution equipment, he says, he and the other researchers were able to identify elements that had not even been imagined.

With the new technology, the researchers focused on several points of the fruit fly's lifespan, determining which genes were expressed at which times.

Another Connecticut contribution came from Mark Gerstein, professor of biomedical informatics at Yale, who co-authored a paper on the roundworm as part of the same project, and is a member of the modENCODE consortium.

"The real thrust behind all these papers is to provide an annotation of the human genome," he said.

As is the case with science, discoveries tend to provide more questions than answers, and Gerstein says the latest findings will lead to more inquiries about the workings of the genome. Once the genome is mapped, he says, you can isolate specific tissues and even specific cells for further exploration.