Landmark Genome Study Shows Complexity of Human 'Code'

"You'll learn a lot well before this project is completed," he said, referring to what he termed a continuum of medical advances that would take place as researchers learned more about how genetic defects contribute to various diseases like diabetes, heart disease and certain forms of cancer.

Clinicians would then have a more accurate way of diagnosing patients for their risk of developing specific diseases, DeLisi said.

Working in Harmony

One of the most important parts of this study, DeLisi said, is the fact that many research labs came together to work on it.

"We're all working together to make this happen a lot more rapidly than it would otherwise happen," he said. "To me, that is exhilarating."

Francis Collins, head of the National Human Genome Research Institute, and Michael Snyder of Yale University, echoed that sentiment at a press conference on the study Wednesday morning. They indicated that having so many researchers working together so smoothly was key to completing this important work.

This level of collaboration will continue as scientists aim to complete the mapping of the human genome.

"One of the important results is that we can do this," said Ewan Birney, head of genome annotation at the European Molecular Biology Laboratory's European Bioinformatics Institute. "We can gain this information genomewide."

Evolving Understanding

Birney said that the genome research will take a number of different directions, leading to a variety of discoveries.

"Depending on your level of biological geekiness, you get excited about these stories at a different level," said Birney.

For him, an important finding was how different human and animal DNA are.

As many as half of the functional parts of the genome varied between different mammals, said Birney, who has looked at genomes for mice, rats, hedgehogs, platypuses and baboons, among others.

Despite that diversity between humans and animals, Birney stresses that humans are still very alike from one person to the next.

"Not only are we incredibly similar, the only sensible way to view our genetics is as one population," he said. "We are far, far more similar to each other than we are different."

While the new advance adds to the understanding of the genome, researchers point out that completing the mapping will take time. The complexity of the genome, Collins said, is something he feels all the researchers are in awe of.

"We are intended to be complicated," he said, "and we obviously are."

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