Pediatrician and geneticist Jeff Murray, MD, had two initial reactions to the National Children's Study (NCS), the largest ever National Institutes of Health investigation of the role genes and the environment play on children's health.

"We'll learn more about the causes of childhood illnesses than I ever believed we would figure out in my lifetime. The care for kids will change dramatically over the next 25 years because of this study," said Murray, professor in the UI Carver College of Medicine, as well as the colleges of Dentistry, Liberal Arts and Sciences, and Public Health.

And then Murray—who led the team that discovered the first genetic mutation for cleft lip and palate, and helped build genetic reference maps used by scientists worldwide as part of the Human Genome Project—realized, "I'll have plenty to work on for the next 25 years, and the students I work with can use this data long after I've left the scene."

The NCS, which begins recruiting participants this year, will follow a representative national sample of 100,000 children from before birth to age 21. Researchers will study the development of conditions such as autism, cerebral palsy, preterm birth, diabetes, asthma, and obesity. The study will enroll pregnant women and women intending to become pregnant. Enrollment in Iowa, where roughly 1,000 children in Polk County will be followed, is to start in 2011.

Last fall the NIH awarded an $11.9 million, five-year contract to Polk County health and educational organizations and to the UI, the state's study center providing overall coordination. Murray, who holds the Roy J. Carver Chair in Perinatal Health and is a member of the Institute of Medicine of the National Academies, is the principal investigator. He works closely with co-principal investigator Rizwan Shah, MD, of Iowa Health Systems, who directs the effort in Polk County.

Murray's research on genetic and environmental causes of birth defects focuses primarily on preterm delivery—the first common condition that will generate data for the NCS—and cleft lip and palate. "We already know that environmental factors like cigarette smoking and infection are risks for prematurity," he said.

"We hope to find more things—nutritional components, for example—that we could modify in the short term to improve outcomes."

In 2002, he and UI colleague Brian Schutte, PhD, identified a gene for Van der Woude Syndrome, a rare, directly inherited form of cleft lip and palate. Two years later, Murray's laboratory led a worldwide team of researchers who found this same gene, known as interferon regulatory factor 6 (IRF6), also is mutated in 10 percent to 15 percent of the more common, non-syndromic cases affecting 70 percent of patients with cleft lip and palate. The non-syndromic condition occurs in approximately one in 1,000 U.S. births. The most recent of Murray's collaborations has located a variation on IRF6 that likely contributes to 20 percent of isolated cleft lip.

The research has taken him to the Philippines—where the rate of cleft lip and palate is twice as high as in the United States—about 20 times with Operation Smile, the international medical mission that performs corrective surgeries.

As an undergrad at Massachusetts Institute of Technology, Murray planned to become a high school biology teacher until his wife, Ann Marie McCarthy, PhD, RN, now chair of the Parent, Child and Family Area in the UI College of Nursing, suggested medical school. After a pediatrics residency and a medical genetics fellowship, he joined the UI in 1984. James Hanson ('69 MD), then professor of pediatrics and director of medical genetics, shared Murray's interest in birth defects.

"He gave me the resources and opportunity to set up a program where I could do genetic studies," said Murray, who isn't shy about crediting the many colleagues, collaborators, and students contributing to his success.

"The coolest thing about working with students is to see them exceed you," said Murray, a past recipient of the UI Carver College of Medicine's Distinguished Mentor Award.

"And I owe a huge debt of gratitude to my colleagues in the operating rooms and in the intensive care nurseries. We have world-class clinical care for premature babies and for cleft lip and palate, which attracts people here to get excellent care for their children, and enables my lab to do research much more effectively than might be possible at other places."

Jeff Murray, MD