Stanford researcher's findings may shed light on common, deadly birth defect

STANFORD, Calif. - Top poker players know that the face mirrors the brain. Specialists in embryonic development wouldn't disagree. In fact, because the same clumps of primordial cells mold the final features of both, a close look at a child's face can often yield clues about less visible problems within the skull: a cleft lip or other abnormal facial features can read like a map of brain development gone awry.

Now for the first time, researchers at the Stanford University School of Medicine and the University of California-San Francisco have provided a powerful example of how one genetic pathway can wend its way through an emerging "city" of brain structures and facial features, influencing each phase of development in slightly different ways. Like an architect overseeing a complicated building process, a key protein required early in development for embryonic survival exerts a waning but vital influence throughout the sequential construction of the brain and face. Blocking this protein's action at varying developmental stages yields very different anatomical results - including one in which only the exterior, or the face, is affected while the scaffolding, or the brain, is left unscathed.

The results not only shed light on a common cause of miscarriage in humans, they also help to untangle a medical mystery: why children born with the same genetic disorder can have vastly different symptoms.

"Everybody recognizes that in some genetic diseases, one person can be much more severely affected than another, and we've all wondered 'Why is that?'" said Jill Helms, DDS, PhD. "We thought that uncovering the gene or genes responsible for the condition might answer the question, but in many cases that has only added more confusion."

Helms, an associate professor in plastic and reconstructive surgery, recently came to Stanford from UCSF, where the current work was conducted. She is the senior author of the research, which appears in

Contact: Krista Conger
Stanford University Medical Center

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