The real promise of genomics

Fintan Steele, July 15th, 2010 | Filed under
  • Genomic studies reveal that the complement pathway unexpectedly underlies macular degeneration

In case you missed it, I want to draw your attention to an interesting news program that aired on July 12: Charlie Rose dedicated that show to the "ten year anniversary" of the announcement that the human genome draft had been completed.

Eric Lander, Director of the Broad Institute, was one of three guests discussing the Human Genome Project and the last decade of genome-related discoveries. Eric makes the point that the last ten years had led us to a point where "we are beginning to lay bare the pathways of disease."

This is a distinction that is critically important and almost always overlooked. Identifying the multiple genetic variations that contribute to common diseases is NOT an end in its own right: Rather, it is a powerful tool that allows us to begin to tease apart the fundamental biological pathways that can go off-the-rails and lead to these diseases.

Think about genes as a basic recipe for building a biological organism. Slight changes in the recipe, or even the environment in which the recipe is followed, can result in very different dishes at the end. The complex interactions of the multiple proteins encoded by the genes – the pathways, if you will -- are largely a black box to us. However, by working from the recipe we can begin to sort them out. Even more important, we can figure out what changes in those interactions are related to diseases as diverse as, say, Alzheimer’s and colon cancer, and thus find new ways to combat them at their molecular roots.

As Eric noted, we’ve found a lot of surprises: for example, the defects underlying macular degeneration, one of the leading causes of blindness, lie in the complement system. Totally unexpected, and we would never have found this without proceeding from the genetic perspective. And there are a lot more surprises to come.

So understanding the genetics is just the beginning: the hard work of understanding how the pathways operate and how to drive disease-related changes back to normal is just underway. As Eric noted: “We will get important incremental progress along the way but we are going to get revolutionary progress for our children when we have it all.”

Check out the show to hear additional commentary from Eric as well as Rose’s other guests, Francis Collins and Nicholas Wade.