Health Sciences Report Fall 2004

Eccles Institute of Human Genetics
A Culture of Collaboration
By Phil Sahm

The Eccles Institute of Human Genetics wouldn't look good in ivy.

The 14-year-old building, with its futuristic staircase spiraling up seven floors like the DNA double helix, bears little resemblance to the ivy-covered retreats where scholars labor in solitary pursuit.

The institute (EIHG) has gained a reputation for attracting researchers who share ideas and expertise with each other and those throughout the University. That's a climate Raymond F. Gesteland, Ph.D., U vice president for research and distinguished professor of human genetics, wants to encourage.

"Utah has a reputation for bringing researchers together for collaboration," Gesteland said. "We don't select people who want to go to places with ivy growing on the walls."

Gesteland and Raymond L. White, Ph.D., were co-chairs of the School of Medicine's Department of Human Genetics when they envisioned creation of the Eccles Institute of Human Genetics as a place where scientists researching basic mechanisms of biology and physician-scientists attacking specific diseases would interact, communicate, and collaborate.

White came to the U with the idea that testing DNA sequencing variation could be used as a genetic tool, according to Gesteland. To do that, White began reaching out to School of Medicine clinicians in his work. His talent at working with physicians proved to be a "major catalyst" in establishing collaboration among EIHG researchers, Gesteland said.

The Utah Population Database, developed in the 1970s through the work of people like Mark H. Skolnick, Ph.D., now adjunct professor of medical informatics and one of the founders of Myriad Genetics, also played a key role in establishing the spirit of teamwork by making available genetic information on thousands of Utah families. Today, the database enables researchers from EIHG, the School of Medicine, John A. Moran Eye Center, Huntsman Cancer Institute, and colleges of Pharmacy, Nursing, and Health to work together on studies of the genetics of cancer, diabetes, epilepsy, and numerous other diseases.

A reputation for collaboration helps attract quality researchers, said Mark F. Leppert, Ph.D., professor and co-chair of human genetics. But the opportunity to work together offers practical advantages by broadening researchers' knowledge and, in many cases, increasing the chances of winning research grants. Young investigators, with smaller labs, can particularly benefit by joining with researchers in different areas of expertise.

"It's important because so many times researchers are specialized and only see part of the picture," said Leppert, who often works with scientists and clinicians throughout the health sciences center. "You learn a lot through collaboration, and it's a stimulating environment for an academician."

In a current project on epilepsy, for example, Leppert is undertaking the genetics study, while H. Steve White, Ph.D., professor of pharmacology and toxicology, and director of the Anticonvulsant Drug Development Program in the College of Pharmacy, is looking at potential medications, and Karen S. Wilcox, Ph.D., research associate professor of pharmacology and toxicology, is studying issues related to physiology.

Granting agencies encourage collaboration because it helps spur the invention of new technology, according to Mario R. Capecchi, Ph.D., co-chair of human genetics, distinguished professor of human genetics and biology, and a Howard Hughes Medical Institute investigator. By funding researchers with widely different areas of expertise, the National Institutes of Health (NIH) and the National Science Foundation believe the chances for inventing new technology increase.

"Science progresses with technology," Capecchi said, "and collaboration is a way of getting new technology."

High-speed gene sequencing is a good example of technology that emerged from collaboration on the Human Genome Project. Ten years ago, high-speed sequencing wasn't available. But the vast information contained in the human genome gave scientists from different disciplines--computer scientists, geneticists, physicists, and others--the incentive to find a faster way to sequence DNA.

Developing technology is an important part of what Capecchi's lab does, and he wants other researchers to be able to use it. "We develop technology so that it's easily transferable to other labs," Capecchi said.

In recruiting new faculty, Capecchi and Leppert look for people who want to collaborate. They also want scientists who expand the range of organisms EIHG researchers study to model human disease. Zebrafish, for example, have become the focus for a growing number of researchers across campus, due in part to David J. Grunwald, Ph.D., professor of human genetics.

Grunwald, who came to the U in 1988, was the first to study zebrafish here and promoted the sharing of resources with other U scientists to conduct zebrafish research. Today, he oversees one of the largest facilities in the country, with 6,000 zebrafish tanks. Seven health sciences center faculty members in human genetics, neurobiology and anatomy, physiology, oncological sciences, and pediatrics, use zebrafish to model human disease, as well as normal development and physiology. As the zebrafish is increasingly used to model human disease, other health sciences faculty have started investigations with the fish, according to Grunwald.

Every two weeks, upward of 50 U researchers get together to talk about their work with the zebrafish model. Among the research programs on campus specifically devoted to modeling clinical disorders are researchers using the zebrafish to develop models of leukemia, colon cancer, congenital heart defects, muscular dystrophy, DiGeorge Syndrome, and other birth defects.

The NIH funded half of the $1.1 million facility, with A. Lorris Betz, M.D., Ph.D., senior vice president for health sciences, and Gesteland putting up the remainder from their budgets.

"A shared facility like this allows the kind of research that can't be done by small labs," Grunwald said. "This has become a poster child for how people can help each other."

The Centralized Zebrafish Animal Resource (CZAR) is the newest of the health sciences center's 15 core facilities shared by researchers across campus. They could be considered among the U's best examples of collaboration. Yet Jerry Kaplan, Ph.D., associate vice president for health sciences for basic sciences, who directs the core facilities, points first to the collegiality that underlies them.

"The new buzzwords are 'interdisciplinary research' and 'collaboration,' but collaboration has been one of the hallmarks of Utah," noted Kaplan, professor of pathology in the School of Medicine. "There's always been a sense of community and sharing among colleagues here that has made this a wonderful place to do research."

From his own lab in the Department of Pathology, Kaplan recalled how, in the early days of molecular biology when they'd discovered a gene but didn't yet know how to sequence DNA, one of his graduate students was able to learn from Robert B. Weiss, Ph.D., in the Department of Human Genetics.

Now Weiss, a professor who headed the Human Genome Project at the U, is working with Kevin M. Flanigan, M.D., associate professor of neurology, on a project to correlate phenotype and genotype in Duchenne Muscular Dystrophy, the most common form of the disease. So far, they've examined about 500 patients. They're putting in a grant proposal that includes clinical trials of a test that would identify children with Duchenne Muscular Dystrophy.

Weiss is part of other U collaborative projects with clinical implications, including a major investigation of the genetics of nicotine addiction and a study with Leppert and Jean-Marc Lalouel, M.D., Ph.D., professor of human genetics, to define genes that predispose people to high blood pressure.

"One of the good things about being up here at the health sciences center is collaborating with physicians," Weiss said. "It puts a level of reality in our science."

Most universities emphasize collaboration these days, according to Alice Schmid, Ph.D., an assistant professor who joined the human genetics faculty last September. Part of what attracted her to the U is the diversity of collaborators and the varied approaches EIHG researchers use to model human disease, opening opportunities for extensive discourse.

"Clearly most universities emphasize the need for collaboration," she said. "But only at Eccles Institute of Human Genetics do you actually have people from so many different areas of expertise working together."

Whether it's from just passing in the hallway, or meeting other researchers for coffee or lunch, the opportunity for exchanging ideas is "tremendous," Schmid said.

For Gesteland, mixing all these researchers together is an organic part of science.

"It's fun to bring people together and see what they have in common," he said. "Eighty percent of doing science is sociology."

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