Aug. 12, 2008 St. Jude Children's Research Hospital scientists
have identified one of the molecular mechanisms underlying the
genetic brain malformation called holoprosencephaly (HPE). The
findings not only yield insights into the most common
developmental malformation of the anterior brain and face in
newborns, but also help in understanding the intricate process
by which the brain forms in the developing fetus. Led by St.
Jude geneticist Guillermo Oliver, Ph.D., the researchers
published their findings in the August 11, 2008, issue of the
journal Developmental Cell. "These findings are important,
because, while genes that cause HPE have been identified, the
interactions among those that produce HPE are not only complex,
but poorly understood," Oliver said. "This represents a first
step in understanding the mechanism of that interaction." HPE
occurs in about one in every 250 fetuses, frequently causing
miscarriage or stillbirth. HPE is present in varying degrees in
one in every 16,000 newborns. The disorder