Model Organisms

While people aren’t generally considered model organisms, recent advances in robotic sequencing and DNA microarray technology make it easier to carry out genetic studies on individual human beings. For instance, with these tools, we can now compare the genetic differences between healthy and cancerous human cells. And used in combination with the recently completed human genome, these tools allow researchers to study genetic variation in the human population and tease out the factors that contribute to normal variation and disease susceptibility.

On comparing human genomes with other model organisms:
"The Human Genome Project is the most historic thing that science has ever done in biology… But when you look at the genome, consider what this looks like: page after page of As, Cs, Gs, and Ts in a particular order. It’s impossible to stare at that and have any idea what it means. So we have to come up with very sophisticated ways to understand how the cell reads this instruction book. Our cells know how to do it, they’re doing it right now. But we, with our current tools, are very imperfect in our ability to understand this. So, we need lots of other things. We need to sequence lots of other genomes. If you can compare the human to the mouse to the rat to the zebrafish to the puffer fish to the cow to the dog to the honeybee—all their genomes are being sequenced—that comparison is going to tell us a huge amount about function."

On making meaning of the human genome:
"I see us at the end of the beginning when it comes to genomics. We’ve built this foundation of the sequence and a bunch of other attributes about it, but the real challenge is what comes next–to understand how the genome works and to apply it for medical purposes. As a physician, I am looking forward to those next steps where we figure out how to interpret who is at risk for what, and what to offer those people to keep them healthy.

"The genome is a wonderful book of medicine. It gives us insight into how things work. And that will give us the chance to design therapies that have a high efficacy, that really do treat the disease, with a low risk of problems. I can’t wait."

— Francis Collins , Director, National Human Genome Research Institute

On understanding human genetic variation:
"We’re all almost identical—99.9% identical—to every other human being on this planet. Although most of them are harmless, those little differences—about one in one thousand—account for our risks of inherited disease in different ways and explain visible traits in different ways.

"We need a total inventory of all the common variations in the human population. There are eight to ten million common sites of variation, and already I reckon we have almost half of them in public databases. Then we have to start correlating them with an individual’s susceptibility to disease, because I think that’s going to turn out to be our best clue as to which genes matter for which diseases. So, if over the next four or five years we were to extract all the functional elements in the genome and be able to capture all the variation in the genome and correlate it with disease, I’d say it’d be a worthwhile half decade or so."

— Eric Lander , Director, Whitehead Institute's Center for Genome Research at MIT

For more information, visit the Human Genome Project Web site and the Human Genome Resources section of the National Center for Biotechnology Information Web site.