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

the Aug. 16 issue of The Journal of Clinical Investigation. Helms is supported by the Lucile Packard Foundation for Children's Health.

Helms, along with former UCSF researcher Dwight Cordero, MD, who is now a perinatologist at Albert Einstein Medical School, and their colleagues studied a birth defect called holoprosencephaly, or HPE, that results when the embryonic brain fails to properly divide into two hemispheres. Although the disorder affects only about one in every 10,000 infants in this country, it's believed that the initial rates are much higher, occurring about once in every 250 conceptions. Most fetuses are so severely affected that they are miscarried early in pregnancy.

Symptoms range from death within days to severe mental retardation, seizures and an inability to speak. Others, however, suffer only mild learning disabilities. Facial defects can include a cleft lip, a single central incisor or "front tooth," close-set eyes or even a single eye in the center of the child's forehead.

Although it's not known exactly what causes HPE, overexposure to alcohol or other chemicals during early development has been implicated. There's also a genetic component: children with HPE routinely crop up in some families, although the severity of symptoms within a family can vary widely. This mishmash of possible causes and symptoms has made it difficult for doctors to prevent and treat the disorder.

The researchers turned to chicken embryos to study the problem, capitalizing on the fact that fertilized eggs are, in effect, perfectly isolated, self-contained laboratories. The physical separation of the mother from the embryo means that scientists can add factors they wish to study in precisely controlled amounts at well-defined times during development. And even though a bird beak seems quite different than a human nose or a mouse snout, the cells and pathways involved in brain and facial patterning are conserved between the sp

Contact: Krista Conger
Stanford University Medical Center

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