Ellington

Two new grants from the National Human Genome Research Institute have opened doors for studying genetics at the UW.

The first grant, totaling $5.2 million per year for four years, will be devoted to the UW Center for Mendelian Genomics, which studies inherited disorders, specifically rare single-gene mutations. The second grant is from the National Human Genome Research Institute and the National Cancer Institute and is composed of $2.3 million a year, funding a study of colon cancer.

“Researchers have focused on individual diseases for decades,” said Jay Shendure, UW assistant professor of genome sciences and one of the principal researchers at the new center. “We wanted to be able to study all of these diseases in one place, focus and collaborate on the methods and diseases.”

Dr. Debbie Nickerson, a professor of genome sciences and a principal investigator working alongside Shendure, has more than a decade’s worth of experience studying sequence variation in the human genome. She is one of the directors of the new center.

“We have a lot of outstanding people at the cutting edge of their area [of interest],” Nickerson said. “Together, we built a very cooperative program at the UW, … so this program will have four very experienced people as principal investigators.”

The entire UW program is part of a nationwide effort to fund and increase the use of genetic information in clinical settings and study single-gene mutation disorders, she said.

“We’re very fortunate,” Nickerson said. “In the past, we had great success with about 20 similar diseases, such as Kabuki disease, after a smaller yet similar grant, which led to our group being chosen again with this larger grant.”

Part of that fortune is that the characteristics of Mendelian disorders make it an excellent research target, Nickerson said. Since the diseases travel in families, once test subjects have been found, past and present case history can be discovered and the subjects’ genomes sequenced.

“I want to highlight the collaborative nature of these genomic centers,” Nickerson said. “The UW has its own center now, but there are centers being established across the U.S. in order to work on all of these diseases together.”

Collaboration is important to Nickerson and Dr. Gail Jarvik, head of the UW’s division of medical genetics. Both work on each other’s respective projects to lend their expertise to the other’s work. Jarvik’s program (of which she is the principal investigator) is the recipient of the $2.3 million grant to focus on colon cancer. There are about 30 people in her study.

“Colon cancer is a useful subject, as it’s fairly common and has many genetic factors,” Jarvik said. “Sometimes we find the gene for it; sometimes we don’t. … We can also randomize all the test subjects because it’s common, so that’s why we’re focusing on colon cancer.”

Another challenge is interpreting the data generated by genetic sequencing. Doctors from the UW and elsewhere contribute their knowledge to determine what data is useful in medical diagnosis. Programs will have to be developed to synthesize the most applicable genetic information.

The study is only just being set in place, so results may take a while to surface. Meanwhile, the medical genetics division will be able to focus on the discoveries generated by Nickerson and Shendure’s work.

“It’s going to be a lot of back and forth collaboration for the next four years,” Jarvik said. “Right now, the colon cancer study is what we’re working with. … That’s the whole focus of all the genetic work, after all … getting the genetic causes of all the diseases.”

Reach reporter Garrett Black at news@dailyuw.com.