Holoprosencephaly News and Research

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What are the effects of prenatal exposure to alcohol and marijuana on fetal development?

Researchers presented the effects of simultaneous alcohol and cannabinoid (SAC) usage during gestation on fetal brain development.

10 Jan 2023

Study links common chemical to rare birth defect in mice

A chemical commonly used in consumer and agricultural products to boost the effectiveness of insecticides has been linked to a rare birth defect in mice.

23 Oct 2019

Fetal MRI can accurately identify holoprosencephaly by 18 weeks of gestation

Fetal magnetic resonance imaging can reliably spot holoprosencephaly as early as 18 gestational weeks, providing an opportunity to counsel families earlier in their pregnancy, according to Children's-led research published online May 18, 2018, in the American Journal of Medical Genetics.

22 May 2018

GW scientist awarded $1.7 million grant to understand mechanisms behind Hedgehog receptor

Among scientists specializing in the area, the mechanisms behind the signaling function of the Hedgehog (Hh) receptor pathway remain a mystery. Xiaoyen Zheng, Ph.D., assistant professor of anatomy and regenerative biology at the George Washington University School of Medicine and Health Sciences, who recently received a $1.7 million grant from the National Institutes of Health and National Institute of General Medical Sciences, is determined to learn more about the Hh pathway.

4 May 2017

Scientists identify and describe molecular mechanism behind holoprosencephaly

Researchers of the Max Delbr-ck Center for Molecular Medicine (MDC) Berlin-Buch have now identified and described a molecular mechanism underlying the most common malformation of the brain in humans. In holoprosencephaly (HPE), the forebrain (prosencephalon) is only incompletely formed.

14 Feb 2012

Facial and brain anomalies in holoprosencephaly related chromosome aberrations characterized

Researchers at Signature Genomic Laboratories, which performs diagnostic genetic testing of chromosome abnormalities in individuals with unexplained physical and developmental disabilities, recently characterized a broad spectrum of facial and brain anomalies in individuals with chromosome aberrations associated with holoprosencephaly.

27 Jan 2010

Researchers discover how Sonic hedgehog gene controls brain development

University of Pennsylvania School of Medicine researchers have discovered how the expression of the Sonic hedgehog gene is regulated during brain development and how mutations that alter this process cause brain malformations. The results appear online this month in Nature Genetics.

28 Oct 2008

Researchers identify molecular mechanism underlying a genetic brain malformation called holoprosencephaly

St. Jude Children's Research Hospital scientists have identified one of the molecular mechanisms underlying the genetic brain malformation called holoprosencephaly (HPE).

11 Aug 2008

Scientists find key step in a signaling pathway that helps orchestrate embryonic development

The study, reported in Nature (Oct. 13, 2005), focuses on the Hedgehog family of signaling molecules, which play a central role in directing development of the early embryo's growth and spatial plan, as well as its later organ and limb development. Defects in Hedgehog signaling are a significant cause of some birth defects and cancers.

25 Oct 2005

Research sheds shed light on a common cause of miscarriage in humans

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

20 Aug 2004