According to Associate Professor of Genome Sciences Deborah Nickerson, “As our knowledge of the baseline reference sequence increases, so will our need to define the level of natural variation in human populations. Basic sequences are 99.9 percent similar, but that tenth of a percent variation may hold the key to our understanding of a number of diseases.”

Nickerson directs a $10 million grant from the National Heart, Lung and Blood Institute of the National Institutes of Health (NIH) to study genetic variation. Awarded to the UW and the Fred Hutchinson Cancer Research Center, the grant is one of 11 similar NIH-financed programs across the country. The goal is to apply and expand Human Genome Project data to learn how small differences in the genetic code sequence affect human functions, especially susceptibility and resistance to disease.

“We’re interested in applying sequencing technology to human genes known to be involved in disease,” said Nickerson. For example, there are candidate lipid metabolism genes involved in cholesterol processing and transport. Some people get heart disease early in life, and genetic variation could possibly identify individuals with that susceptibility.